This document provides an overview of systemic connective tissue diseases. It begins with definitions and classifications, including heritable and acquired systemic connective tissue diseases. Mechanisms are described relating to connective tissue abnormalities, body systems affected, and specific autoantibodies associated with different diseases. Selected systemic connective tissue diseases are discussed in more detail, including Marfan syndrome and systemic lupus erythematosus. Manifestations, diagnostic criteria and management of these conditions are summarized.
Dermatomyositis is a chronic inflammatory disorder of the skin and muscles that is characterized by an autoimmune pathogenesis. It commonly presents with characteristic rashes like Gottron's papules and heliotrope rash as well as proximal muscle weakness. Dermatomyositis can also involve internal organs like the lungs, esophagus and heart. Diagnosis involves assessing clinical features, muscle enzymes, electromyography, muscle/skin biopsies and identifying myositis-specific antibodies. Prognosis depends on the severity and organ involvement, with risks of residual weakness, contractures and death from respiratory or cardiac complications.
Scleroderma is a multisystem collagen vascular disease characterized by fibrosis of the skin and internal organs. It results from endothelial cell injury, fibroblast activation, and immune system involvement. The two main types are limited cutaneous systemic sclerosis, which affects the skin of the hands and face, and diffuse cutaneous systemic sclerosis, which has more extensive skin involvement. Major organ manifestations include pulmonary fibrosis, gastrointestinal tract abnormalities, heart and kidney involvement. Treatment focuses on preventing further organ damage through immunosuppression and addressing specific organ system complications.
This document provides information on systemic sclerosis (SSc), a chronic autoimmune disease characterized by thickening and hardening of the skin, and involvement of internal organs. It can present as either limited or diffuse cutaneous forms. Key clinical features include Raynaud's phenomenon, skin thickening and tightening, digital pitting scars, and internal organ involvement such as interstitial lung disease, gastrointestinal issues, and renal crisis. Diagnosis involves clinical examination and the presence of autoantibodies. Differential diagnoses include other conditions presenting with similar skin or vascular changes. Complications can affect multiple organ systems and are a leading cause of mortality.
This document discusses vasculitis, which is inflammation of blood vessels. It defines vasculitis and describes the different types including large vessel, medium vessel, and small vessel vasculitis. Specific conditions are discussed such as giant cell arteritis, granulomatosis with polyangiitis, Churg-Strauss syndrome, Behcet's disease, thromboangiitis obliterans, and infectious vasculitis. The pathology, clinical features, morphology, and treatment of some of these conditions are summarized. Images are also included showing histological features.
Systemic sclerosis, or scleroderma, is a multisystem disorder characterized by vascular abnormalities, skin and organ fibrosis, and immune system activation. It can be classified as either diffuse or limited cutaneous systemic sclerosis based on the extent and pattern of skin involvement. Common clinical features include Raynaud's phenomenon, skin thickening, gastrointestinal issues, lung fibrosis, and renal crisis. Treatment involves managing symptoms, with immunosuppressants sometimes used to modify disease progression. Prognosis depends on subtype, with limited scleroderma carrying a better long-term survival rate than diffuse disease.
This document summarizes several bullous diseases:
1. It describes the locations and characteristics of vesicles and bullae. Vesicles can form within or under the epidermis or between the dermis and epidermis.
2. It then focuses on three main immunobullous diseases - pemphigus, pemphigoid, and linear IgA bullous disease. Pemphigus is caused by antibodies against desmoglein proteins and features flaccid blisters. Pemphigoid features tense blisters caused by antibodies against basement membrane proteins. Linear IgA bullous disease clinically resembles pemphigoid.
3. Dermatitis herpetiformis is described
A 57-year-old woman presented with thickened skin on her hands and feet that had progressed up her extremities. She also reported weakness with tasks like rising from a chair. Exam found sclerodactyly up to her elbows and mid-shins with muscle wasting and weakness. Labs were normal except for elevated CPK of 10,000. She was diagnosed with scleroderma and some form of associated myopathy based on her skin findings consistent with limited scleroderma and muscle symptoms of weakness and elevated CPK.
Dermatomyositis is a chronic inflammatory disorder of the skin and muscles that is characterized by an autoimmune pathogenesis. It commonly presents with characteristic rashes like Gottron's papules and heliotrope rash as well as proximal muscle weakness. Dermatomyositis can also involve internal organs like the lungs, esophagus and heart. Diagnosis involves assessing clinical features, muscle enzymes, electromyography, muscle/skin biopsies and identifying myositis-specific antibodies. Prognosis depends on the severity and organ involvement, with risks of residual weakness, contractures and death from respiratory or cardiac complications.
Scleroderma is a multisystem collagen vascular disease characterized by fibrosis of the skin and internal organs. It results from endothelial cell injury, fibroblast activation, and immune system involvement. The two main types are limited cutaneous systemic sclerosis, which affects the skin of the hands and face, and diffuse cutaneous systemic sclerosis, which has more extensive skin involvement. Major organ manifestations include pulmonary fibrosis, gastrointestinal tract abnormalities, heart and kidney involvement. Treatment focuses on preventing further organ damage through immunosuppression and addressing specific organ system complications.
This document provides information on systemic sclerosis (SSc), a chronic autoimmune disease characterized by thickening and hardening of the skin, and involvement of internal organs. It can present as either limited or diffuse cutaneous forms. Key clinical features include Raynaud's phenomenon, skin thickening and tightening, digital pitting scars, and internal organ involvement such as interstitial lung disease, gastrointestinal issues, and renal crisis. Diagnosis involves clinical examination and the presence of autoantibodies. Differential diagnoses include other conditions presenting with similar skin or vascular changes. Complications can affect multiple organ systems and are a leading cause of mortality.
This document discusses vasculitis, which is inflammation of blood vessels. It defines vasculitis and describes the different types including large vessel, medium vessel, and small vessel vasculitis. Specific conditions are discussed such as giant cell arteritis, granulomatosis with polyangiitis, Churg-Strauss syndrome, Behcet's disease, thromboangiitis obliterans, and infectious vasculitis. The pathology, clinical features, morphology, and treatment of some of these conditions are summarized. Images are also included showing histological features.
Systemic sclerosis, or scleroderma, is a multisystem disorder characterized by vascular abnormalities, skin and organ fibrosis, and immune system activation. It can be classified as either diffuse or limited cutaneous systemic sclerosis based on the extent and pattern of skin involvement. Common clinical features include Raynaud's phenomenon, skin thickening, gastrointestinal issues, lung fibrosis, and renal crisis. Treatment involves managing symptoms, with immunosuppressants sometimes used to modify disease progression. Prognosis depends on subtype, with limited scleroderma carrying a better long-term survival rate than diffuse disease.
This document summarizes several bullous diseases:
1. It describes the locations and characteristics of vesicles and bullae. Vesicles can form within or under the epidermis or between the dermis and epidermis.
2. It then focuses on three main immunobullous diseases - pemphigus, pemphigoid, and linear IgA bullous disease. Pemphigus is caused by antibodies against desmoglein proteins and features flaccid blisters. Pemphigoid features tense blisters caused by antibodies against basement membrane proteins. Linear IgA bullous disease clinically resembles pemphigoid.
3. Dermatitis herpetiformis is described
A 57-year-old woman presented with thickened skin on her hands and feet that had progressed up her extremities. She also reported weakness with tasks like rising from a chair. Exam found sclerodactyly up to her elbows and mid-shins with muscle wasting and weakness. Labs were normal except for elevated CPK of 10,000. She was diagnosed with scleroderma and some form of associated myopathy based on her skin findings consistent with limited scleroderma and muscle symptoms of weakness and elevated CPK.
Different types of vasculitis have characteristic patterns of blood vessel involvement.However vasculitis is a systemic illness.The symptoms of vasculitis depend on the particular blood vessels that are involved by the inflammatory process
This document discusses vasculitis, which is an inflammatory destruction of blood vessels. It can affect all ages but some types are restricted to certain groups. It has both genetic and environmental components. Symptoms vary depending on the size of vessels involved and can include fatigue, rashes, nerve problems, and organ damage. Diagnosis involves clinical features, lab tests, and sometimes biopsies. Treatment is usually with steroids and other immunosuppressants to induce and maintain remission. Complications can be serious if not treated properly.
Ehlers-Danlos syndrome (EDS) is a group of disorders associated with hyper-elasticity and fragility of the skin due to defects in collagen synthesis, secretion, or processing. There are over 10 types of EDS, with types I-IV, VII, and X associated with defects in collagen protein synthesis and types VI and IX associated with defects in collagen processing enzymes. EDS type IV can cause the most life-threatening complications such as spontaneous ruptures of arteries and organs. While there is no cure for EDS, treatment focuses on managing symptoms through physiotherapy, analgesics, and surgery.
Polyarteritis nodosa (PAN) is a systemic necrotizing vasculitis that causes inflammation of small and medium arteries. It predominantly affects the arteries of the kidneys, heart, liver, and gastrointestinal tract, causing ischemia and tissue damage. The pathology is characterized by segmental necrotizing inflammation of the arterial walls. PAN is diagnosed based on biopsy of an affected organ showing arteritis or angiography demonstrating aneurysms of small and medium arteries. Treatment involves high-dose glucocorticoids and cyclophosphamide to induce remission, though relapse can occur in 10-20% of cases.
Christopher Columbus may have suffered from and died of Reiter's arthritis. Reiter's arthritis is a painful inflammatory arthritis that develops after certain bacterial or viral infections, often in the genitourinary or gastrointestinal tracts. Symptoms include joint pain and swelling, eye inflammation, and genital lesions. Treatment focuses on treating underlying infections, reducing pain and inflammation, and managing joint symptoms.
Systemic lupus erythematosus (SLE) is an autoimmune disease where the immune system attacks its own tissues, causing inflammation and damage. It is characterized by periods of disease flares and remission. Common symptoms include joint pain, rashes, and fatigue. SLE can affect many organs like the skin, lungs, heart, and kidneys. Diagnosis involves evaluating symptoms, lab tests like antinuclear antibodies, and sometimes biopsies. Treatment aims to reduce symptoms during flares and prevent organ damage using medications like corticosteroids, antimalarials, and immunosuppressants. SLE affects mostly women of childbearing age and has no known cure.
A 60-year-old woman presented with painful, sclerotic hands and fingers due to progressive cutaneous scleroderma. She was started on a compounded topical cream containing ketamine, baclofen, gabapentin, verapamil, and pentoxifylline, which provided significant pain relief and improved sensation within a month. At a 6-month follow up, she had been largely weaned off opioid pain medications. The customized treatment targeted the pathophysiology of the condition and helped manage her debilitating symptoms.
Polyarteritis nodosa is a rare systemic necrotizing vasculitis that causes inflammation of small and medium-sized arteries. It is characterized by lesions that form at arterial bifurcations, causing aneurysms, thrombosis, ischemia, and organ damage. While its cause is unknown, it has been linked to hepatitis B virus infection. Symptoms can affect many organ systems and include fever, weight loss, skin lesions, neuropathy, gastrointestinal involvement, and renal impairment. Diagnosis involves meeting 3 out of 10 American College of Rheumatology criteria and treatment focuses on immunosuppression with corticosteroids and cyclophosphamide. Prognosis depends on organ involvement but outcomes have improved with aggressive immunosuppressive therapy.
This document discusses acquired heart disease, specifically infective endocarditis and rheumatic heart disease. It defines infective endocarditis as an inflammation of the inner lining of the heart caused by bacteria, viruses, or fungi. Rheumatic fever is described as a non-suppurative complication that can occur weeks after a Group A Streptococcal infection. The document outlines the etiology, pathogenesis, diagnosis, treatment and prevention of these conditions through 23 pages of detailed text and images.
This document discusses several connective tissue diseases including systemic lupus erythematosus, scleroderma, Sjogren syndrome, polymyositis, and Sharp syndrome. Systemic lupus erythematosus is a multisystem autoimmune disease most common in young females, with symptoms involving multiple organ systems. Scleroderma involves skin fibrosis and internal organ involvement. Sjogren syndrome causes dryness from immune damage to exocrine glands. Polymyositis features muscle inflammation. Sharp syndrome is an overlap syndrome combining features of systemic lupus erythematosus, rheumatoid arthritis, Sjogren syndrome, scleroderma, and polymyositis.
1. The lecture covers the definition, pathophysiology, classification, clinical presentation, diagnosis and treatment of various types of vasculitis.
2. Vasculitis is classified according to the size of blood vessels involved, ranging from large vessel vasculitis like Takayasu arteritis and Giant Cell Arteritis, to medium vessel vasculitis like Polyarteritis nodosa, to small vessel vasculitis like Wegener's granulomatosis.
3. Key aspects of evaluation include clinical features, laboratory and serological testing, imaging, and biopsy. Management involves treatment of underlying causes, immunosuppression, and controlling disease activity and complications.
This patient has longstanding SLE with quiescent disease activity currently. She has a history of fetal loss and blood clots while pregnant previously. She is seeking contraceptive options other than barrier methods. Given her history of APL antibodies and blood clots, progesterone-only contraceptives like the progesterone IUD or depot medroxyprogesterone would be safest options to avoid estrogen which could increase her risk for further clotting issues.
This document provides an overview of the pathophysiology, diagnosis, and treatment of joint pain. It discusses the various causes of joint pain including inflammation, cartilage degeneration, crystal deposition, infection, and trauma. The document outlines the approach to evaluating a patient with joint pain, including obtaining a thorough history regarding symptoms, physical examination of the joints, and initial laboratory tests. Common differential diagnoses are also reviewed depending on characteristics such as number of involved joints, symmetry, and distribution of pain.
This document discusses seronegative arthritis, specifically focusing on spondyloarthropathies. It defines spondyloarthropathies as a group of inflammatory arthropathies that share clinical, radiographic, and genetic features, including ankylosing spondylitis, reactive arthritis, psoriatic arthritis, and enteropathic arthritis. It then provides detailed information on the pathogenesis, clinical manifestations, diagnostic findings, and treatment approaches for ankylosing spondylitis and reactive arthritis. Psoriatic arthritis is also briefly discussed.
Rheumatology Sheet from Rheumatology Department, Faculty of Medicine, Zagazig University, Egypt.
Disclaimer : not my slide. Just uploading for my personal use..
Dermatomyositis (DM) is an inflammatory myopathy characterized by a distinctive rash that often precedes progressive symmetric muscle weakness. The rash may involve areas of the face, eyelids, knuckles, shoulders, and back. Muscle biopsy is required to confirm diagnosis and shows inflammation around blood vessels in the muscle tissue. Treatment involves immunosuppressive drugs like glucocorticoids to improve muscle strength and function. Prognosis is generally good with most patients improving on therapy, though relapses can occur.
Giant cell arteritis is a disease that affects medium and large arteries, often causing ischemia. It typically affects older adults and presents with symptoms of temporal headache, jaw claudication, and scalp tenderness. Laboratory tests often show elevated ESR and CRP levels. Diagnosis is made through temporal artery biopsy or response to treatment with corticosteroids like prednisone. Treatment involves high doses of prednisone tapered over two years to prevent vision loss and other complications.
This presentation will give a brief idea on proximal myopathy, causes, clinical presentation, history and physical examination, investigations to diagnose the disease easily.
It will be more helpful to medical students.
An overview of the 2010 Revised Ghent Nosology for Marfan Syndrome. Created to train those knowledgable of the disorder of the changes in how the disorder is diagnosed, including systemic score, z-score calculation, genetic testing, differential diagnosis, etc.
1. Marfan syndrome is an inherited disorder of connective tissue that affects many parts of the body, including the skeletal, ocular, cardiovascular and pulmonary systems.
2. It is caused by mutations in the FBN1 gene which results in abnormal fibrillin protein and connective tissue abnormalities.
3. Diagnosis is based on assessments of the skeletal, ocular, cardiovascular and other body systems compared to established diagnostic criteria such as the Ghent nosology, with a focus on assessments of the aorta and lenses.
Different types of vasculitis have characteristic patterns of blood vessel involvement.However vasculitis is a systemic illness.The symptoms of vasculitis depend on the particular blood vessels that are involved by the inflammatory process
This document discusses vasculitis, which is an inflammatory destruction of blood vessels. It can affect all ages but some types are restricted to certain groups. It has both genetic and environmental components. Symptoms vary depending on the size of vessels involved and can include fatigue, rashes, nerve problems, and organ damage. Diagnosis involves clinical features, lab tests, and sometimes biopsies. Treatment is usually with steroids and other immunosuppressants to induce and maintain remission. Complications can be serious if not treated properly.
Ehlers-Danlos syndrome (EDS) is a group of disorders associated with hyper-elasticity and fragility of the skin due to defects in collagen synthesis, secretion, or processing. There are over 10 types of EDS, with types I-IV, VII, and X associated with defects in collagen protein synthesis and types VI and IX associated with defects in collagen processing enzymes. EDS type IV can cause the most life-threatening complications such as spontaneous ruptures of arteries and organs. While there is no cure for EDS, treatment focuses on managing symptoms through physiotherapy, analgesics, and surgery.
Polyarteritis nodosa (PAN) is a systemic necrotizing vasculitis that causes inflammation of small and medium arteries. It predominantly affects the arteries of the kidneys, heart, liver, and gastrointestinal tract, causing ischemia and tissue damage. The pathology is characterized by segmental necrotizing inflammation of the arterial walls. PAN is diagnosed based on biopsy of an affected organ showing arteritis or angiography demonstrating aneurysms of small and medium arteries. Treatment involves high-dose glucocorticoids and cyclophosphamide to induce remission, though relapse can occur in 10-20% of cases.
Christopher Columbus may have suffered from and died of Reiter's arthritis. Reiter's arthritis is a painful inflammatory arthritis that develops after certain bacterial or viral infections, often in the genitourinary or gastrointestinal tracts. Symptoms include joint pain and swelling, eye inflammation, and genital lesions. Treatment focuses on treating underlying infections, reducing pain and inflammation, and managing joint symptoms.
Systemic lupus erythematosus (SLE) is an autoimmune disease where the immune system attacks its own tissues, causing inflammation and damage. It is characterized by periods of disease flares and remission. Common symptoms include joint pain, rashes, and fatigue. SLE can affect many organs like the skin, lungs, heart, and kidneys. Diagnosis involves evaluating symptoms, lab tests like antinuclear antibodies, and sometimes biopsies. Treatment aims to reduce symptoms during flares and prevent organ damage using medications like corticosteroids, antimalarials, and immunosuppressants. SLE affects mostly women of childbearing age and has no known cure.
A 60-year-old woman presented with painful, sclerotic hands and fingers due to progressive cutaneous scleroderma. She was started on a compounded topical cream containing ketamine, baclofen, gabapentin, verapamil, and pentoxifylline, which provided significant pain relief and improved sensation within a month. At a 6-month follow up, she had been largely weaned off opioid pain medications. The customized treatment targeted the pathophysiology of the condition and helped manage her debilitating symptoms.
Polyarteritis nodosa is a rare systemic necrotizing vasculitis that causes inflammation of small and medium-sized arteries. It is characterized by lesions that form at arterial bifurcations, causing aneurysms, thrombosis, ischemia, and organ damage. While its cause is unknown, it has been linked to hepatitis B virus infection. Symptoms can affect many organ systems and include fever, weight loss, skin lesions, neuropathy, gastrointestinal involvement, and renal impairment. Diagnosis involves meeting 3 out of 10 American College of Rheumatology criteria and treatment focuses on immunosuppression with corticosteroids and cyclophosphamide. Prognosis depends on organ involvement but outcomes have improved with aggressive immunosuppressive therapy.
This document discusses acquired heart disease, specifically infective endocarditis and rheumatic heart disease. It defines infective endocarditis as an inflammation of the inner lining of the heart caused by bacteria, viruses, or fungi. Rheumatic fever is described as a non-suppurative complication that can occur weeks after a Group A Streptococcal infection. The document outlines the etiology, pathogenesis, diagnosis, treatment and prevention of these conditions through 23 pages of detailed text and images.
This document discusses several connective tissue diseases including systemic lupus erythematosus, scleroderma, Sjogren syndrome, polymyositis, and Sharp syndrome. Systemic lupus erythematosus is a multisystem autoimmune disease most common in young females, with symptoms involving multiple organ systems. Scleroderma involves skin fibrosis and internal organ involvement. Sjogren syndrome causes dryness from immune damage to exocrine glands. Polymyositis features muscle inflammation. Sharp syndrome is an overlap syndrome combining features of systemic lupus erythematosus, rheumatoid arthritis, Sjogren syndrome, scleroderma, and polymyositis.
1. The lecture covers the definition, pathophysiology, classification, clinical presentation, diagnosis and treatment of various types of vasculitis.
2. Vasculitis is classified according to the size of blood vessels involved, ranging from large vessel vasculitis like Takayasu arteritis and Giant Cell Arteritis, to medium vessel vasculitis like Polyarteritis nodosa, to small vessel vasculitis like Wegener's granulomatosis.
3. Key aspects of evaluation include clinical features, laboratory and serological testing, imaging, and biopsy. Management involves treatment of underlying causes, immunosuppression, and controlling disease activity and complications.
This patient has longstanding SLE with quiescent disease activity currently. She has a history of fetal loss and blood clots while pregnant previously. She is seeking contraceptive options other than barrier methods. Given her history of APL antibodies and blood clots, progesterone-only contraceptives like the progesterone IUD or depot medroxyprogesterone would be safest options to avoid estrogen which could increase her risk for further clotting issues.
This document provides an overview of the pathophysiology, diagnosis, and treatment of joint pain. It discusses the various causes of joint pain including inflammation, cartilage degeneration, crystal deposition, infection, and trauma. The document outlines the approach to evaluating a patient with joint pain, including obtaining a thorough history regarding symptoms, physical examination of the joints, and initial laboratory tests. Common differential diagnoses are also reviewed depending on characteristics such as number of involved joints, symmetry, and distribution of pain.
This document discusses seronegative arthritis, specifically focusing on spondyloarthropathies. It defines spondyloarthropathies as a group of inflammatory arthropathies that share clinical, radiographic, and genetic features, including ankylosing spondylitis, reactive arthritis, psoriatic arthritis, and enteropathic arthritis. It then provides detailed information on the pathogenesis, clinical manifestations, diagnostic findings, and treatment approaches for ankylosing spondylitis and reactive arthritis. Psoriatic arthritis is also briefly discussed.
Rheumatology Sheet from Rheumatology Department, Faculty of Medicine, Zagazig University, Egypt.
Disclaimer : not my slide. Just uploading for my personal use..
Dermatomyositis (DM) is an inflammatory myopathy characterized by a distinctive rash that often precedes progressive symmetric muscle weakness. The rash may involve areas of the face, eyelids, knuckles, shoulders, and back. Muscle biopsy is required to confirm diagnosis and shows inflammation around blood vessels in the muscle tissue. Treatment involves immunosuppressive drugs like glucocorticoids to improve muscle strength and function. Prognosis is generally good with most patients improving on therapy, though relapses can occur.
Giant cell arteritis is a disease that affects medium and large arteries, often causing ischemia. It typically affects older adults and presents with symptoms of temporal headache, jaw claudication, and scalp tenderness. Laboratory tests often show elevated ESR and CRP levels. Diagnosis is made through temporal artery biopsy or response to treatment with corticosteroids like prednisone. Treatment involves high doses of prednisone tapered over two years to prevent vision loss and other complications.
This presentation will give a brief idea on proximal myopathy, causes, clinical presentation, history and physical examination, investigations to diagnose the disease easily.
It will be more helpful to medical students.
An overview of the 2010 Revised Ghent Nosology for Marfan Syndrome. Created to train those knowledgable of the disorder of the changes in how the disorder is diagnosed, including systemic score, z-score calculation, genetic testing, differential diagnosis, etc.
1. Marfan syndrome is an inherited disorder of connective tissue that affects many parts of the body, including the skeletal, ocular, cardiovascular and pulmonary systems.
2. It is caused by mutations in the FBN1 gene which results in abnormal fibrillin protein and connective tissue abnormalities.
3. Diagnosis is based on assessments of the skeletal, ocular, cardiovascular and other body systems compared to established diagnostic criteria such as the Ghent nosology, with a focus on assessments of the aorta and lenses.
Marfan syndrome is a genetic disorder of connective tissue that affects the heart, eyes, bones and other tissues. It is caused by mutations in the FBN1 gene and is inherited in an autosomal dominant pattern. Diagnosis is based on the Ghent criteria, which looks for major and minor clinical features in different organ systems. Common signs and symptoms include elongated limbs, scoliosis, eye problems like retinal detachment, heart issues like mitral valve prolapse and aortic aneurysm, and skeletal issues like joint hypermobility and pain. While there is no cure, treatment focuses on managing heart and eye complications through medication and surgery.
The patient presented with alcohol intoxication and hypoglycemia. Examination revealed features suggestive of Marfan syndrome such as bicuspid aortic valve, dilated aorta, and skeletal features. However, he did not fully meet diagnostic criteria for Marfan syndrome. Differential diagnoses considered included Loeys-Dietz syndrome and MASS phenotype based on involvement of cardiovascular and skeletal systems. Treatment focused on management of valvular issues and aortic aneurysm with monitoring.
Rheumatoid arthritis is an autoimmune disease characterized by inflammation of the joints, especially in the hands and feet. It affects around 1% of the population and is more common in women. If left untreated, chronic inflammation can lead to joint damage and disability. Management involves reducing inflammation and pain with medications like NSAIDs, corticosteroids, and disease-modifying antirheumatic drugs (DMARDs), with the goal of achieving remission and preventing long-term joint damage and deformity.
Cardiovascular Management of
Marfan Syndrome: Implications
for Nurse Practitioners
Jonathan Yip, MN, NP, and Jo-Ann Sawatzky, PhD, RN
Readers may rec
0.17 contact hou
Association of N
the online postt
area=JNP.
The Jo594
ABSTRACT
Marfan syndrome (MFS) is a genetic disorder affecting 1 in 5,000 individuals.
The diagnosis is made using a combination of genetic testing and the revised Ghent
criteria. MFS is associated with the cardiovascular-related risks of aortic dilation and
dissection. Therefore, the main goal of medical therapy is blood pressure control using
beta-blockers and lifestyle modification. Prophylactic surgical intervention remains
the single, definitive measure in preventing dissection or rupture. Nurse practitioners
must be vigilant in caring for this population as these cardiovascular risks can be
reduced by early identification and diagnosis and timely intervention.
Keywords: aortic dilation, aortic dissection, cardiovascular complications, Marfan
syndrome
� 2014 Elsevier, Inc. All rights reserved.
arfan syndrome (MFS) is a heritable dis-
order of connective tissue. It is a relatively
Mcommon genetic disorder affecting 1
in 5,000 individuals without gender, racial, or ethnic
predilection.1-3 MFS affects multiple systems of the
body, with consequent cardiovascular-, skeletal-,
ocular-, integument-, lung-, and dural-related
symptoms.3-5 Based on earlier studies, the cause of
MFS was thought to be primarily due to the muta-
tion in the fibrillin-1 (FBN-1) gene on chromosome
15, resulting in abnormal fibrillin structure that causes
the connective tissue disorder. More recent studies
have shown that the dysfunctional transforming
growth factor (TGF)-b cytokine plays a more
critical role in extracellular matrix homeostasis or
remodeling.6-8
The diagnosis of MFS is based on both genetic
testing of FBN-1 and physical findings under the
revised Ghent criteria. Although MFS manifests in
varying degrees of severity, the most life-threatening
eive 0.79 continuing education contact hours, including
rs of pharmacology credit, approved by the American
urse Practitioners, by reading this article and completing
est and evaluation at https://cecenter.aanp.org/Program?
urnal for Nurse Practitioners - JNP
consequences include aortic dilation and dissection,
which can lead to aortic rupture and death. Hence,
it is crucial for nurse practitioners (NPs) to have
comprehensive knowledge of these complications,
as it is not uncommon for NPs to encounter MFS
patients in both acute and primary care practice.
Currently, the opportunities for early diagnosis and
the use of noninvasive serial aortic imaging, as well
as advancements in the both medical and surgical
management of MFS, have led to significant
improvement in the life expectancy of all affected
individuals.3,5 In this study we aim to provide NPs
with a comprehensive overview of MFS and offer
specific insights for the cardiovascular management
of these individuals and their families.
GENE.
Cardiovascular Management of
Marfan Syndrome: Implications
for Nurse Practitioners
Jonathan Yip, MN, NP, and Jo-Ann Sawatzky, PhD, RN
Readers may rec
0.17 contact hou
Association of N
the online postt
area=JNP.
The Jo594
ABSTRACT
Marfan syndrome (MFS) is a genetic disorder affecting 1 in 5,000 individuals.
The diagnosis is made using a combination of genetic testing and the revised Ghent
criteria. MFS is associated with the cardiovascular-related risks of aortic dilation and
dissection. Therefore, the main goal of medical therapy is blood pressure control using
beta-blockers and lifestyle modification. Prophylactic surgical intervention remains
the single, definitive measure in preventing dissection or rupture. Nurse practitioners
must be vigilant in caring for this population as these cardiovascular risks can be
reduced by early identification and diagnosis and timely intervention.
Keywords: aortic dilation, aortic dissection, cardiovascular complications, Marfan
syndrome
� 2014 Elsevier, Inc. All rights reserved.
arfan syndrome (MFS) is a heritable dis-
order of connective tissue. It is a relatively
Mcommon genetic disorder affecting 1
in 5,000 individuals without gender, racial, or ethnic
predilection.1-3 MFS affects multiple systems of the
body, with consequent cardiovascular-, skeletal-,
ocular-, integument-, lung-, and dural-related
symptoms.3-5 Based on earlier studies, the cause of
MFS was thought to be primarily due to the muta-
tion in the fibrillin-1 (FBN-1) gene on chromosome
15, resulting in abnormal fibrillin structure that causes
the connective tissue disorder. More recent studies
have shown that the dysfunctional transforming
growth factor (TGF)-b cytokine plays a more
critical role in extracellular matrix homeostasis or
remodeling.6-8
The diagnosis of MFS is based on both genetic
testing of FBN-1 and physical findings under the
revised Ghent criteria. Although MFS manifests in
varying degrees of severity, the most life-threatening
eive 0.79 continuing education contact hours, including
rs of pharmacology credit, approved by the American
urse Practitioners, by reading this article and completing
est and evaluation at https://cecenter.aanp.org/Program?
urnal for Nurse Practitioners - JNP
consequences include aortic dilation and dissection,
which can lead to aortic rupture and death. Hence,
it is crucial for nurse practitioners (NPs) to have
comprehensive knowledge of these complications,
as it is not uncommon for NPs to encounter MFS
patients in both acute and primary care practice.
Currently, the opportunities for early diagnosis and
the use of noninvasive serial aortic imaging, as well
as advancements in the both medical and surgical
management of MFS, have led to significant
improvement in the life expectancy of all affected
individuals.3,5 In this study we aim to provide NPs
with a comprehensive overview of MFS and offer
specific insights for the cardiovascular management
of these individuals and their families.
GENE ...
- Marfan syndrome is a genetic disorder of the connective tissue that affects the heart, blood vessels, eyes, lungs, bones and skin. It is caused by mutations in the FBN1 gene which encodes fibrillin-1, an important protein in connective tissue.
- Common characteristics include tall stature, long limbs, curved spine, dislocated lenses of the eyes and a weakened aorta which can dilate and dissect. Treatment focuses on monitoring for cardiovascular complications and using beta blockers to protect the heart. Surgery may be needed to repair the aorta or valves. Regular eye exams are also important to check for retinal detachment.
Connective Tissue Disorders Slides - January 17, 2023CHC Connecticut
This document discusses several genetic connective tissue disorders including Ehlers Danlos syndromes, Marfan syndrome, Loeys-Dietz syndrome, Stickler syndrome, Shprintzen Goldberg syndrome, Cutis Laxa, and Osteogenesis Imperfecta. It highlights the importance of identifying these disorders to allow for timely detection of serious complications and management by multiple medical specialists. Connective tissues are the most abundant tissues in the body and connect, support, bind or separate other tissues. Identification of a connective tissue disorder through genetic diagnosis guides appropriate care.
Inherited aortopathy can cause complications like aortic dissection and repeated surgeries. This document discusses inherited aortopathies associated with congenital heart defects. Primary aortic dilatation is mainly associated with coarctation of the aorta, bicuspid aortic valve, and conotruncal abnormalities. Secondary dilatation can occur after congenital heart surgery when non-aortic tissue is used. The most serious complication is aortic dissection. Guidelines exist for investigating and treating this life-threatening event, with consideration of underlying hereditary disorders.
Marfan syndrome is a genetic disorder of the connective tissue that affects the skeletal, ocular, and cardiovascular systems. It is caused by mutations in the FBN1 gene affecting fibrillin-1, which is important for connective tissue formation. Characteristics include tall stature, long limbs, joint flexibility, eye problems like lens dislocation, and aortic root dilation and risk of aneurysm. Diagnosis involves assessment of these signs against criteria like the Ghent nosology. While there is no cure, management focuses on reducing cardiovascular risk through beta blockers and surgery if needed. A rare neonatal form has very severe effects.
Marfan Syndrome is a genetic disorder of connective tissue caused by mutations in the FBN1 gene resulting in skeletal, ocular, and cardiovascular abnormalities. It is characterized by disproportionately long limbs, joint hypermobility, eye problems like ectopia lentis, and life-threatening issues like aortic aneurysm. Diagnosis is based on clinical assessment using systemic criteria. Management focuses on surveillance and prevention of complications through beta-blockers, surgery, and potentially losartan which may help slow aortic root growth. Prognosis has improved with current treatments but cardiovascular events remain common.
El síndrome de Marfan es un trastorno hereditario que afecta el tejido conectivo, es decir, las fibras que sostienen y sujetan los órganos y otras estructuras del cuerpo. El síndrome de Marfan afecta más frecuentemente el corazón, los ojos, los vasos sanguíneos y el esqueleto.
The document provides an overview of osteoarthritis including its definition, epidemiology, risk factors, etiology, mechanisms, classification, clinical investigation, diagnosis, treatment, and prognosis. Some key points include:
- Osteoarthritis is the most common joint disease involving breakdown of cartilage and underlying bone. It affects over 50% of those over 65.
- Risk factors include age, obesity, joint injury, genetics, and occupations involving repetitive joint stress.
- Symptoms vary by joint but include pain, stiffness, swelling, and loss of function. Diagnosis is made clinically and via x-ray showing bone spurs and joint space narrowing.
- Treatment involves pain management, exercise, weight loss, and possibly
Rheumatoid arthritis is an autoimmune disease that causes inflammation of the joints, resulting in pain, swelling, stiffness and destruction of cartilage and bone. It most commonly affects small joints in the hands and feet. Conventional treatments include NSAIDs, disease-modifying anti-rheumatic drugs like methotrexate, and corticosteroids. However, these may have side effects or lose effectiveness over time. Biological therapies targeting cytokines like TNF-α have significantly improved treatment outcomes, with anti-TNF agents infliximab, etanercept and adalimumab being widely used options.
Rheumatoid arthritis is an autoimmune disease that causes inflammation of the joints, resulting in pain, swelling, stiffness and destruction of cartilage and bone. It most commonly affects small joints in the hands and feet. Conventional treatments include NSAIDs, disease-modifying anti-rheumatic drugs like methotrexate, and corticosteroids. However, these may have side effects or lose effectiveness over time. Biological therapies targeting cytokines like TNF-α have been developed as alternative treatments and include anti-TNF agents infliximab, etanercept and adalimumab, as well as the IL-6 receptor antagonist tocilizumab. These biologics provide more effective relief of symptoms for many
Rheumatoid arthritis is an autoimmune disease that causes inflammation of the joints. It commonly affects the small joints in the hands and feet first. Symptoms include pain, swelling, and stiffness of the joints, with morning stiffness lasting over an hour. It can lead to long-term joint damage, resulting in disability. Diagnosis is based on symptoms, physical exam, blood tests for rheumatoid factor and anti-CCP antibodies, and x-rays. Treatment involves medications like NSAIDs for pain relief, DMARDs like methotrexate to reduce disease activity and progression, and biological DMARDs for those with inadequate response to conventional DMARDS. The goals of treatment are to reduce joint damage, prevent disability, and
Rheumatoid arthritis is an autoimmune disease that causes inflammation of the joints. It commonly affects the small joints in the hands and feet first. Key features include persistent joint swelling and stiffness that improves with movement. It can lead to long-term joint damage, deformity and disability if left untreated. Treatment involves medications like NSAIDs for pain relief and disease-modifying antirheumatic drugs (DMARDs) like methotrexate to reduce symptoms and prevent further joint damage. DMARDs work best when started early in the disease course. The goals of treatment are to relieve pain, prevent disability and educate patients about managing their condition.
Semelhante a Systemic Connective Tissue Diseases (20)
The document discusses the benefits of exercise for mental health. Regular physical activity can help reduce anxiety and depression and improve mood and cognitive functioning. Exercise causes chemical changes in the brain that may help protect against mental illness and improve symptoms.
The document discusses the benefits of exercise for mental health. Regular physical activity can help reduce anxiety and depression and improve mood and cognitive function. Exercise causes chemical changes in the brain that may help protect against mental illness and improve symptoms for those who already suffer from conditions like anxiety and depression.
The document discusses the benefits of exercise for mental health. Regular physical activity can help reduce anxiety and depression and improve mood and cognitive functioning. Exercise boosts blood flow, releases endorphins, and promotes changes in the brain which help enhance one's emotional well-being and mental clarity.
The document discusses the benefits of exercise for mental health. Regular physical activity can help reduce anxiety and depression and improve mood and cognitive functioning. Exercise causes chemical changes in the brain that may help boost feelings of calmness, happiness and focus.
The document discusses the benefits of exercise for mental health. Regular physical activity can help reduce anxiety and depression and improve mood and cognitive function. Exercise causes chemical changes in the brain that may help protect against mental illness and improve symptoms for those who already suffer from conditions like anxiety and depression.
The document discusses the benefits of exercise for mental health. Regular physical activity can help reduce anxiety and depression and improve mood and cognitive function. Exercise causes chemical changes in the brain that may help protect against mental illness and improve symptoms for those who already suffer from conditions like anxiety and depression.
The document discusses the benefits of exercise for mental health. Regular physical activity can help reduce anxiety and depression and improve mood and cognitive functioning. Exercise causes chemical changes in the brain that may help protect against mental illness and improve symptoms.
The document provides information about the Post Graduate Common Entrance Test to be held on July 1st, 2017 from 2:30 pm to 4:30 pm for various Masters programs. It lists instructions for candidates regarding filling the answer sheet correctly and details about the structure of the test, which will consist of 75 multiple choice questions worth 100 marks to be completed within 120 minutes. Candidates are advised to carefully read and follow the guidelines for appearing in the exam.
Civil Service 2019 Prelims Previous Question Paper - 2Eneutron
The document discusses the benefits of exercise for mental health. Regular physical activity can help reduce anxiety and depression and improve mood and cognitive function. Exercise causes chemical changes in the brain that may help protect against mental illness and improve symptoms.
Civil Service 2019 Prelims Previous Question Paper - 1Eneutron
The document discusses the benefits of exercise for mental health. Regular physical activity can help reduce anxiety and depression and improve mood and cognitive function. Exercise causes chemical changes in the brain that may help protect against mental illness and improve symptoms.
Civil Service 2018 Prelims Previous Question Paper - 2Eneutron
The document discusses the benefits of exercise for mental health. Regular physical activity can help reduce anxiety and depression and improve mood and cognitive functioning. Exercise causes chemical changes in the brain that may help protect against mental illness and improve symptoms.
Civil Service 2018 Prelims Previous Question Paper - 1Eneutron
The document discusses the benefits of exercise for mental health. Regular physical activity can help reduce anxiety and depression and improve mood and cognitive functioning. Exercise causes chemical changes in the brain that may help protect against mental illness and improve symptoms.
Civil Service 2017 Prelims Previous Question Paper - 2Eneutron
The document discusses the benefits of exercise for mental health. Regular physical activity can help reduce anxiety and depression and improve mood and cognitive function. Exercise causes chemical changes in the brain that may help protect against mental illness and improve symptoms for those who already suffer from conditions like depression and anxiety.
Civil Service 2017 Prelims Previous Question Paper - 1Eneutron
The document discusses the benefits of exercise for mental health. Regular physical activity can help reduce anxiety and depression and improve mood and cognitive function. Exercise stimulates the production of endorphins in the brain which elevate mood and reduce stress levels.
This document contains the question paper for SNAP 2013 along with the answers to the 150 multiple choice questions. It directs test takers to an online site to attempt previous SNAP papers and provides information about exam preparation resources available on the site such as daily practice questions, preparation strategies, coaching classes, and current affairs.
This document contains the question paper for SNAP 2014 along with the answers to the 150 multiple choice questions. It provides a link to attempt similar past year papers online and lists exam preparation resources for SNAP like daily practice questions, preparation strategies, coaching class recommendations, and current affairs.
Histololgy of Female Reproductive System.pptxAyeshaZaid1
Dive into an in-depth exploration of the histological structure of female reproductive system with this comprehensive lecture. Presented by Dr. Ayesha Irfan, Assistant Professor of Anatomy, this presentation covers the Gross anatomy and functional histology of the female reproductive organs. Ideal for students, educators, and anyone interested in medical science, this lecture provides clear explanations, detailed diagrams, and valuable insights into female reproductive system. Enhance your knowledge and understanding of this essential aspect of human biology.
Adhd Medication Shortage Uk - trinexpharmacy.comreignlana06
The UK is currently facing a Adhd Medication Shortage Uk, which has left many patients and their families grappling with uncertainty and frustration. ADHD, or Attention Deficit Hyperactivity Disorder, is a chronic condition that requires consistent medication to manage effectively. This shortage has highlighted the critical role these medications play in the daily lives of those affected by ADHD. Contact : +1 (747) 209 – 3649 E-mail : sales@trinexpharmacy.com
Cell Therapy Expansion and Challenges in Autoimmune DiseaseHealth Advances
There is increasing confidence that cell therapies will soon play a role in the treatment of autoimmune disorders, but the extent of this impact remains to be seen. Early readouts on autologous CAR-Ts in lupus are encouraging, but manufacturing and cost limitations are likely to restrict access to highly refractory patients. Allogeneic CAR-Ts have the potential to broaden access to earlier lines of treatment due to their inherent cost benefits, however they will need to demonstrate comparable or improved efficacy to established modalities.
In addition to infrastructure and capacity constraints, CAR-Ts face a very different risk-benefit dynamic in autoimmune compared to oncology, highlighting the need for tolerable therapies with low adverse event risk. CAR-NK and Treg-based therapies are also being developed in certain autoimmune disorders and may demonstrate favorable safety profiles. Several novel non-cell therapies such as bispecific antibodies, nanobodies, and RNAi drugs, may also offer future alternative competitive solutions with variable value propositions.
Widespread adoption of cell therapies will not only require strong efficacy and safety data, but also adapted pricing and access strategies. At oncology-based price points, CAR-Ts are unlikely to achieve broad market access in autoimmune disorders, with eligible patient populations that are potentially orders of magnitude greater than the number of currently addressable cancer patients. Developers have made strides towards reducing cell therapy COGS while improving manufacturing efficiency, but payors will inevitably restrict access until more sustainable pricing is achieved.
Despite these headwinds, industry leaders and investors remain confident that cell therapies are poised to address significant unmet need in patients suffering from autoimmune disorders. However, the extent of this impact on the treatment landscape remains to be seen, as the industry rapidly approaches an inflection point.
These lecture slides, by Dr Sidra Arshad, offer a quick overview of the physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar lead (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
6. Describe the flow of current around the heart during the cardiac cycle
7. Discuss the placement and polarity of the leads of electrocardiograph
8. Describe the normal electrocardiograms recorded from the limb leads and explain the physiological basis of the different records that are obtained
9. Define mean electrical vector (axis) of the heart and give the normal range
10. Define the mean QRS vector
11. Describe the axes of leads (hexagonal reference system)
12. Comprehend the vectorial analysis of the normal ECG
13. Determine the mean electrical axis of the ventricular QRS and appreciate the mean axis deviation
14. Explain the concepts of current of injury, J point, and their significance
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. Chapter 3, Cardiology Explained, https://www.ncbi.nlm.nih.gov/books/NBK2214/
7. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
ABDOMINAL TRAUMA in pediatrics part one.drhasanrajab
Abdominal trauma in pediatrics refers to injuries or damage to the abdominal organs in children. It can occur due to various causes such as falls, motor vehicle accidents, sports-related injuries, and physical abuse. Children are more vulnerable to abdominal trauma due to their unique anatomical and physiological characteristics. Signs and symptoms include abdominal pain, tenderness, distension, vomiting, and signs of shock. Diagnosis involves physical examination, imaging studies, and laboratory tests. Management depends on the severity and may involve conservative treatment or surgical intervention. Prevention is crucial in reducing the incidence of abdominal trauma in children.
NVBDCP.pptx Nation vector borne disease control programSapna Thakur
NVBDCP was launched in 2003-2004 . Vector-Borne Disease: Disease that results from an infection transmitted to humans and other animals by blood-feeding arthropods, such as mosquitoes, ticks, and fleas. Examples of vector-borne diseases include Dengue fever, West Nile Virus, Lyme disease, and malaria.
Local Advanced Lung Cancer: Artificial Intelligence, Synergetics, Complex Sys...Oleg Kshivets
Overall life span (LS) was 1671.7±1721.6 days and cumulative 5YS reached 62.4%, 10 years – 50.4%, 20 years – 44.6%. 94 LCP lived more than 5 years without cancer (LS=2958.6±1723.6 days), 22 – more than 10 years (LS=5571±1841.8 days). 67 LCP died because of LC (LS=471.9±344 days). AT significantly improved 5YS (68% vs. 53.7%) (P=0.028 by log-rank test). Cox modeling displayed that 5YS of LCP significantly depended on: N0-N12, T3-4, blood cell circuit, cell ratio factors (ratio between cancer cells-CC and blood cells subpopulations), LC cell dynamics, recalcification time, heparin tolerance, prothrombin index, protein, AT, procedure type (P=0.000-0.031). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and N0-12 (rank=1), thrombocytes/CC (rank=2), segmented neutrophils/CC (3), eosinophils/CC (4), erythrocytes/CC (5), healthy cells/CC (6), lymphocytes/CC (7), stick neutrophils/CC (8), leucocytes/CC (9), monocytes/CC (10). Correct prediction of 5YS was 100% by neural networks computing (error=0.000; area under ROC curve=1.0).
Does Over-Masturbation Contribute to Chronic Prostatitis.pptxwalterHu5
In some case, your chronic prostatitis may be related to over-masturbation. Generally, natural medicine Diuretic and Anti-inflammatory Pill can help mee get a cure.
8 Surprising Reasons To Meditate 40 Minutes A Day That Can Change Your Life.pptxHolistified Wellness
We’re talking about Vedic Meditation, a form of meditation that has been around for at least 5,000 years. Back then, the people who lived in the Indus Valley, now known as India and Pakistan, practised meditation as a fundamental part of daily life. This knowledge that has given us yoga and Ayurveda, was known as Veda, hence the name Vedic. And though there are some written records, the practice has been passed down verbally from generation to generation.
4. http://www.webmd.com/a-to-z-guides/connective-tissue-disease
Definition
• Systemic connective tissue diseases (systemic
autoimmune diseases, collagen diseases, collagen
vascular diseases , SCTD) refer to a group of chronic
autoimmune inflammatory disorders involving the
protein-rich connective tissue that supports organs and
other parts of the body, first of all the joints, muscles,
skin, and other organs and organ systems, including
the eyes, heart, lungs, kidneys, gastrointestinal tract,
and blood vessels.
• There are more than 200 disorders that affect the
connective tissue.
6. http://rheumatology.oxfordjournals.org/content/45/suppl_3/iii1.full http://emedicine.medscape.com/article/335815-overview#a4
Mechanisms
(The Connective Tissues Abnormalities)
• SCTD have the connective tissues of the body as a target of
chronic autoimmune progressive inflammation.
• However, the mechanisms of SCTD are diverse, the connective
tissues abnormalities include impaired angiogenesis as well as
immunological alterations, e.g. B-lymphocytes and T-
lymphocytes activation , self-antigens apoptotic modification
and immune response against them, widespread lymphocytic
and plasmacytic infiltration, activation of Toll-like receptors,
etc. with abundant fibrinoid deposits.
• SCTD characterized by varying tissue distribution with different
pattern of organ involvement.
7. Mechanisms
(Body Systems Affected by SCTD)
http://www.lifeextension.com/~/media/lef/images/magazine/mag2014/images/mar2014_smad_05.ashx
10. Marfan syndrome
(Definition)
• Marfan syndrome (MFS) is a spectrum of
disorders caused by a heritable genetic
defect of connective tissue that has an
autosomal dominant mode of
transmission.
• The defect itself has been isolated to
the FBN1gene on chromosome 15, which
codes for the connective tissue protein
fibrillin.
• Abnormalities in fibrillin cause a myriad of
distinct clinical problems, of which the
musculoskeletal, cardiac, and ocular
system.
Pharaoh Akhenaton
https://stottilien.files.wordpress.com/2014/01/echnaton.png https://en.wikipedia.org/wiki/Marfan_syndrome rheumatology.oxfordjournals.org/content/45/suppl_3/iii1.full
11. Marfan syndrome
(External Signs)
a) the Steinberg sign
b) the Walker-Murdoch sign
www.somospacientes.com/wp-content/uploads/2013/04/S%C3%ADndrome-de-Marfan.jpg mayoclinic.org/diseases-conditions/marfan-syndrome/symptoms-causes/dxc-20195415
12. Marfan syndrome
(Pectus Carinatum Deformity)
Pectus
carinatum also called
pigeon chest, is
adeformity of the
chest characterized
by a protrusion of
the sternum and
ribs.
http://www.londonorthotics.co.uk/media/22949/pectuse-cs1-before_boxpromo.jpg
13. Marfan syndrome
(Dural Ectasia)
T1- and T2-weighted sagittal MR images of the lumbar spine reveal
enlargement of the thecal sac (yellow arrow) with mild scalloping of the
lumbar vertebral bodies and marked focal thinning of the sacrum (white
arrow). An enlarged flow void anterior to the spine (red arrow) is related to
dilation of the descending aorta
http://www.neurology.org/content/71/17/1378/F1.expansion.html
14. Marfan syndrome
(Echocardiography)
A) Two-dimensional echo image in the
parasternal long axis demonstrates dilation
of the aortic root in a MFS patient.
B) Color Doppler echo shows mild
regurgitation through an otherwise normal
aortic valve, which results from the
dilatation of the root.
C) MFS patient with moderate mitral valve
prolapse, demonstrated in 2-dimensional
echo images.
D) Classic M-mode demonstration of prolapse
of the posterior mitral valve leaflet (arrow).
http://circ.ahajournals.org/content/117/21/2802#T1
15. Marfan syndrome
(Computed tomography)
• A) Volume-rendered computed tomographic angiography
image demonstrates the dilatation of the proximal aortic
root and ascending aorta.
• B and C) Computed tomographic imaging demonstrates
evidence of acute type A dissection (arrows).
http://circ.ahajournals.org/content/117/21/2802#T1
16. Marfan syndrome
(Ectopia Lentis)
• Ectopia lentis is a shift in the
location of the lens inside the
eye.
• The lens moves from its
centered location in the eye so
that the person is not looking
through the center of their
lens.
• This dislocation is caused by
weakness in the connective
tissue that holds the lens in
place (zonules).
retroillumination
http://www.aapos.org/terms/conditions/68
17. http://jmg.bmj.com/content/47/7/476.abstract
Marfan syndrome
(Diagnostic Criteria)
• The diagnosis of MFS relies on a set of defined clinical criteria
(the Ghent nosology) revised in 2010.
• The criteria puts more weight on the cardiovascular
manifestations of the disorder.
• Aortic root aneurysm and ectopia lentis (dislocated lenses) are
now cardinal features.
• In the absence of any family history, the presence of these two
features is sufficient for the unequivocal diagnosis of Marfan
syndrome.
• In the absence of one of these two cardinal features, the
presence of an FBN1 mutation of positive systemic score is
required.
18. http://jmg.bmj.com/content/47/7/476.abstract
Marfan syndrome
(Diagnostic Criteria: In the Absence of Family History)
• Aortic Root Dilatation Z score ≥ 2 AND Ectopia Lentis = Marfan
syndrome
• Aortic Root Dilatation Z score ≥ 2 AND FBN1 = Marfan syndrome
• Aortic Root Dilatation Z score ≥ 2 AND Systemic Score ≥ 7pts =
Marfan
• Ectopia lentis AND FBN1 with known Aortic Root Dilatation =
Marfan syndrome
19. http://jmg.bmj.com/content/47/7/476.abstract
Marfan syndrome
(Diagnostic Criteria: In the Presence of Family History)
• Ectopia lentis AND Family History of Marfan syndrome (as
defined above) = Marfan syndrome
• A systemic score ≥ 7 points AND Family History of Marfan
syndrome (as defined above) = Marfan
• Aortic Root Dilatation Z score ≥ 2 above 20 yrs. old, ≥ 3 below
20 yrs. old) + Family History of Marfan syndrome (as defined
above) = Marfan syndrome
20. http://jmg.bmj.com/content/47/7/476.abstract
Marfan syndrome
(Diagnostic Criteria: Points for Systemic Score)
• Wrist AND thumb sign = 3 (wrist OR
thumb sign = 1)
• Pectus carinatum deformity = 2
• Dural ectasia = 2
• Protrusio acetabuli = 2
• pneumothorax = 2
• Reduced upper segment/lower
segment ratio AND increased
arm/height AND no severe scoliosis = 1
(pectus excavatum or chest asymmetry •
= 1)
• Hindfoot deformity = 2 (plain pes
planus = 1)
• Scoliosis or
thoracolumbar kyphosis = 1
• Reduced elbow extension = 1
Facial features (3/5) = 1
(dolichocephaly, enophthalmos,
downslanting palpebral fissures,
malar hypoplasia, retrognathia)
• Skin striae (stretch marks) = 1
• Myopia > 3 diopters = 1
• Mitral valve prolapse 1⁄4 1
21. http://jmg.bmj.com/content/47/7/476.abstract
Marfan syndrome
(Diagnostic Criteria: Points for Systemic Score)
• Wrist AND thumb sign = 3 (wrist OR
thumb sign = 1)
• Pectus carinatum deformity = 2
• Dural ectasia = 2
• Protrusio acetabuli = 2
• pneumothorax = 2
• Reduced upper segment/lower
segment ratio AND increased
arm/height AND no severe scoliosis = 1
(pectus excavatum or chest asymmetry •
= 1)
• Hindfoot deformity = 2 (plain pes
planus = 1)
• Scoliosis or
thoracolumbar kyphosis = 1
• Reduced elbow extension = 1
Facial features (3/5) = 1
(dolichocephaly, enophthalmos,
downslanting palpebral fissures,
malar hypoplasia, retrognathia)
• Skin striae (stretch marks) = 1
• Myopia > 3 diopters = 1
• Mitral valve prolapse 1⁄4 1
22. https://en.wikipedia.org/wiki/Marfan_syndrome#Management
Marfan syndrome
(Physical activity)
• Probably permissible activities: bowling, golf, skating (but not
ice hockey), snorkeling, brisk walking, treadmill, stationary
biking, modest hiking, and doubles tennis.
• Intermediate risk: basketball (both full and half-court),
racquetball, squash, running (sprinting and jogging), skiing
(downhill and cross-country), soccer, singles tennis, touch (flag)
football, baseball, softball, biking, lap swimming, motorcycling,
and horseback riding.
• High risk: body building, weightlifting (non-free and free
weights), ice hockey, rock climbing, windsurfing, surfing, and
scuba diving.
23. http://emedicine.medscape.com/article/946315-overview http://circ.ahajournals.org/content/117/21/2802#T1
Marfan syndrome
(Management)
• Although future therapy directed at the fibrillin-1 gene or the TGF-β axis
may ultimately prove most effective at preventing the aortic complications
of MFS , β-blocker therapy currently remains the “standard of care” or if not
tolerated calcium channel blockers, angiotensin converting enzyme
• (ACE) inhibitors or angiotensin II receptor antagonists (ARBs) can be use.
• Management of type A acute dissection of the aorta is a surgical
emergency.
• The initial management patients with type B acute dissection of the aorta
can employ standard medical approaches.
• Surgical repair of the severely regurgitant mitral valve is possible.
• In end-stage heart failure, orthotopic transplantation is an effective
approach.
• Any spinal surgery should only follow detailed imaging and careful surgical
planning.
24. http://emedicine.medscape.com/article/332244-overview https://en.wikipedia.org/wiki/Systemic_lupus_erythematosus
Systemic Lupus Erythematosus
(Definition)
• Systemic lupus erythematosus (SLE), also known simply
as lupus, is a chronic autoimmune inflammatory disease that
has protean manifestations and follows a relapsing and
remitting course.
• Common symptoms include painful and swollen
joints, fever, chest pain, hair loss, mouth ulcers, swollen lymph
nodes, feeling tired, and a red rash which is most commonly on
the face.
• More than 90% of cases of SLE occur in women, frequently
starting at childbearing age.
27. Systemic Lupus Erythematosus
(Malar Rash)
The first criterion of SLE is a
malar rash, also called butterfly
rash, characterized by an
erythema over the cheeks and
nasal bridge (but sparing the
nasolabial folds).
It lasts from days to weeks and
is occasionally painful or
pruritic.
http://2.bp.blogspot.com/-KB_jTj2IeVQ/U_6ePJ0Ll6I/AAAAAAAAAHU/t82ZVnCnxgQ/s1600/malar%20rash%20image.JPG
28. Systemic Lupus Erythematosus
(Photosensivity)
Photosensitive SLE rashes typically occur on the face or extremities,
which are sun-exposed regions. Although the interphalangeal spaces are
affected, the metacarpophalangeal (MCP) and proximal interphalangeal
(PIP) and distal interphalangeal (DIP) joints are spared.
http://emedicine.medscape.com/article/332244-overview
29. Systemic Lupus Erythematosus
(Discoid Rash)
• Discoid rashes are usually slightly elevated red or pink areas that form
flakes or a crust on the surface of the skin and are rarely found below
the chin, occurring most often on the scalp, and outer ear, and almost
never on the legs.
• Rashes may be itchy and get larger, spreading outward and then leaving
a central scar. In individuals with darker complexions, the central area
can become de-pigmented; in all individuals the outer red area may
become hyper-pigmented.
http://diseasesdefinition.com/wp-content/uploads/2014/12/Discoid-Lupus-Erythematosus.jpg
30. Systemic Lupus Erythematosus
(Oral Ulcers)
A 30-year-old male with systemic lupus erythematosus
presented a palatal ulcer typical for lupus.
http://www.tannlegetidende.no/image/2015/F15-02-008.jpg
31. Systemic Lupus Erythematosus
(Serositis)
Serositis refers to inflammation of the serous tissues of the body,
the tissues lining the lungs (pleura), heart (pericardium), and the
inner lining of the abdomen (peritoneum) and organs within.
http://journal.publications.chestnet.org/article.aspx?articleid=1211826
32. Systemic Lupus Erythematosus
(Renal Disorder )
Glomerular disease with SLE is common, and lupus nephritis
can have many morphologic manifestations as seen on renal
biopsy.
http://library.med.utah.edu/WebPath/RENAHTML/RENAL120.html
33. https://en.wikipedia.org/wiki/Systemic_lupus_erythematosus#Diagnosis
Systemic Lupus Erythematosus
(Laboratory Tests)
• Antinuclear antibody (ANA) testing and anti-extractable nuclear antigen
(anti-ENA) form the mainstay of serologic testing for SLE, although ANA
screening yields positive results in many connective tissue disorders and
other autoimmune diseases, and may occur in normal individuals.
• Subtypes of antinuclear antibodies include anti-Smith and anti-double
stranded DNA (dsDNA) antibodies (which are linked to SLE) and anti-histone
antibodies (which are linked to drug-induced lupus); anti-dsDNA antibodies
are highly specific for SLE.
• Other tests routinely performed in suspected SLE are complement
system levels (low levels suggest consumption by the immune
system), electrolytes and kidney function (disturbed if the kidney is
involved), liver enzymes, and complete blood count.
• The lupus erythematosus (LE) cells are only found in 50–75% of SLE cases,
and they are also found in some people with rheumatoid arthritis,
scleroderma, and drug sensitivities.
34. Systemic Lupus Erythematosus
(The American College of Rheumatology Revised
Classification)
http://www.eular.org/myuploaddata/files/sample%20chapter20_mod%2017.pdf
35. http://emedicine.medscape.com/article/332244-overview#showall
Systemic Lupus Erythematosus
(the European League Against Rheumatism (EULAR)
released recommendations for the treatment of SLE)
• In patients without major organ manifestations, glucocorticoids
and antimalarial agents may be beneficial.
• NSAIDs may be used for short periods in patients at low risk for
complications from these drugs.
• Consider immunosuppressive agents (e.g., azathioprine,
mycophenolate mofetil, methotrexate) in refractory cases or
when steroid doses cannot be reduced to levels for long-term
use.
37. http://emedicine.medscape.com/article/332244-overview#showall
Systemic Lupus Erythematosus
(Adjunctive therapies)
• No diet-based treatment has been proven effective.
• Patients should be reminded that activity may need to be
modified as tolerated.
• Stress and physical illness may precipitate SLE flares.
• Persons with SLE should wear sunscreen and protective clothing
or avoid sun exposure to limit photosensitive rash or disease
flares.
• Vitamin D supplementation may improve endothelial function.
40. http://www.merckmanuals.com/professional/musculoskeletal-and-connective-tissue-disorders/autoimmune-rheumatic-disorders/systemic-sclerosis
Scleroderma
(Manifestations)
• Skin and nail manifestations (swelling of the skin, telangiectasias,
sclerodactyly, masklike face, subcutaneous calcifications, digital
ulcers).
• Joint manifestations (polyarthritis, flexion contractures in the
fingers, wrists, and elbows, etc.).
• Gastrointestinal (GI)manifestations (dysphagia, malabsorption,
pneumatosis intestinalis, peritonitis, and biliary cirrhosis).
• Cardiopulmonary manifestations (lung fibrosis, leading to
restrictive disease with eventual respiratory failure, pulmonary
hypertension, heart failure, pericarditis, and heart arrhythmias).
• Renal manifestations (severe renal disease, usually heralded by
sudden, severe hypertension with features of thrombotic
microangiopathic hemolytic anemia).
47. http://patient.info/doctor/systemic-sclerosis-scleroderma
Scleroderma
(Early Diagnosis - the VEDOSS Initiative)
The VEDOSS (Very Early Diagnosis Of Systemic Sclerosis) initiative in
Europe identified the following features as being key to diagnosing
scleroderma in the very early stage:
• Antinuclear antibodies.
• Scleroderma-specific antibodies.
• Scleroderma pattern on nailfold capillaroscopy.
• Puffy fingers in Raynaud's syndrome patients.
48. https://en.wikipedia.org/wiki/Systemic_scleroderma http://patient.info/doctor/systemic-sclerosis-scleroderma
Scleroderma
(Management)
• There is no cure for scleroderma, and management consists of controlling
symptoms and preventing complications.
• Non-selective immunosuppressive cyclophosphamide has been associated
with improvements in both pulmonary function and skin involvement but
efficacy may reduce beyond two years.
• Mycophenolate mofetil has also been used with improvements in lung
function.
• Azathioprine and methotrexate alone may not be as beneficial but have been
shown to be effective for skin involvement.
• T-cell targeted therapy which is being tested includes sirolimus,
antithymocyte globulin, and basiliximab.
• Oral corticosteroids.
• Nifedipine, nitroglycerin, phosphodiesterase type 5 inhibitors, prostaglandins
are the drugs for Raynaud's phenomenon.
• In all other cases symptomatic treatment only.
49. https://en.wikipedia.org/wiki/Systemic_scleroderma
Scleroderma
(Patient Support Groups)
• The Juvenile Scleroderma Network is an organization dedicated
to provide emotional support and educational information to
parents and their children living with juvenile scleroderma.
• In the US, the Scleroderma Research Foundation is dedicated to
raise awareness of the disease and assist those who are affected.
• The Scleroderma Society is a UK charity founded in 1982 to
provide support for both people with scleroderma and their
families.
51. http://www.aafp.org/afp/2009/0315/p465.html
Sjögren syndrome
(Glandular Manifestations)
• Sjögren syndrome typically presents as dry eyes and dry mouth, also
referred to as xerophthalmia (or keratoconjunctivitis sicca) and
xerostomia, respectively.
• Eye symptoms include dryness, grittiness, pruritus, and foreign body
sensation.
• Oral symptoms include difficulty speaking, eating, or swallowing, and
frequent sips of water may be needed.
• The patient’s eye may show conjunctival injection .
• Early oral findings include decreased salivary pool and dry mucous
membranes, which can progress to erythema, fissuring, and ulceration.
• The patient may also have multiple dental caries as a result of
decreased salivary flow.
• Parotid glands may be tender or swollen.
52. http://www.aafp.org/afp/2009/0315/p465.html
Sjögren syndrome
(Extraglandular Manifestations)
• Arthralgia or nonerosive arthritis characterized by tenderness, swelling, or
effusion of peripheral joints.
• Gastrointestinal symptoms (reflux, dyspepsia, diarrhea, constipation).
• Autoimmune thyroiditis.
• Pulmonary disease (chronic cough, recurrent bronchitis with chronic diffuse
interstitial infiltrates on radiography, abnormal spirometry, pulmonary
alveolitis or fibrosis on computed tomography).
• Raynaud’sphenomenon.
• Cutaneous vasculitis.
• Peripheral neuropathy.
• Lymphadenopathy (enlarged lymph nodes in cervical, axillary, or inguinal
region).
• Renal involvement (proteinuria, renal tubular acidosis, interstitial nephritis,
glomerulonephritis, abnormal urinalysis).
• Fever not associated with infectious process.
59. http://www.aafp.org/afp/2009/0315/p465.html
Sjögren syndrome
(Diagnostic Testing: Eye Symptoms )
• Eye symptoms are usually evaluated with the Schirmer test or
the rose bengal test.
• The Schirmer test involves placing a sterile filter paper strip
beneath the lower eyelid for five minutes. If the moistened area
measures less than 5 mm, the test is positive.
• The rose bengal test usually is performed by an ophthalmologist;
1% rose bengal dye is instilled and the ocular surface integrity is
evaluated by quantitatively scoring the staining of the
conjunctiva. Rose bengal dye will stain devitalized corneal and
conjunctival epithelial cells. The test will identify keratosclerosis
(KCS) when minimal ocular symptoms are present. A routine slit-
lamp evaluation can identify a diminished tear meniscus.
60. http://www.aafp.org/afp/2009/0315/p465.html
Sjögren syndrome
(Diagnostic Testing: Oral Dryness)
• Oral dryness can be evaluated objectively by nonstimulated
whole saliva flow collection, in which the patient spits into a
graduated test tube every minute for 15 minutes. Collection of
less than 1.5 mL in 15 minutes is considered a positive result.
• Other tests include contrast sialography, which visualizes the
salivary glands and ducts via contrast dye injection into the
Stensen duct, and scintigraphy, which evaluates salivary gland
function by measuring sequential uptake and excretion of
technetium 99m.
61. http://www.aafp.org/afp/2009/0315/p465.html
Sjögren syndrome
(Diagnostic Testing: Biopsy)
• Although once considered the gold standard for diagnosis of
Sjögren syndrome, minor salivary gland biopsy of tissue taken
from the patient’s lip is not always necessary.
• A positive biopsy is defined as at least one focus of dense,
inflammatory infiltrate containing at least 50 lymphocytes per 4
mm2.
• The lip biopsy may be useful in ambiguous cases or when
therapy beyond symptom management is being considered.
62. https://en.wikipedia.org/wiki/Sj%C3%B6gren%27s_syndrome#Treatment
Sjögren syndrome
(Patient education)
• Neither a cure nor a specific treatment is known to permanently
restore gland secretion. Instead, treatment is generally symptomatic
and supportive.
• Eye care: moisture replacement (artificial tears), goggles,
cyclosporine, cevimeline, and pilocarpine.
• Vaginal dryness: personal lubricants.
• Musculoskeletal: nonsteroidal anti-inflammatory drugs (NSAIDs),
corticosteroids, intravenous immunoglobulin), disease-modifying
antirheumatic drugs (DMARDs).
• Systemic: biologic disease-modifying antirheumatic drugs (DMARDs).
• Dental care: topical fluoride application to strengthen tooth enamel
and frequent teeth cleanings by a dental hygienist.
63. http://emedicine.medscape.com/article/332125-treatment#showall
Sjögren syndrome
(Surgical Therapy)
• Occlusion of the lacrimal puncta can be corrected
surgically.
• Electrocautery and other techniques can be used for
permanent punctal occlusion.
• During surgery, the anesthesiologist should administer
as little anticholinergic medication as possible and use
humidified oxygen to help avoid inspissation of
pulmonary secretions.
• Good postoperative respiratory therapy should also be
provided.
• Patients are at higher risk for corneal abrasions, so
ocular lubricants should be considered.
65. https://www.sjogrens.org/home/research-programs/healthcare-providers/diagnosis-criteria
Sjögren syndrome
(American-European Consensus Sjögren Classification
Criteria: 1)
I. Ocular Symptoms (at least one)
Dry eyes >3 months?
Foreign body sensation in the eyes?
Use of artificial tears >3x per day?
II. Oral Symptoms (at least one)
Dry mouth >3 months?
Recurrent or persistently swollen salivary
glands?
Need liquids to swallow dry foods?
III. Ocular Signs (at least one)
Schirmer's test, (without anesthesia) ≤5
mm/5 minutes
Positive vital dye staining (van Bijsterveld
≥4)
IV. Histopathology Lip biopsy
showing focal lymphocytic
sialoadenitis
(focus score ≥1 per 4 mm2)2
V.Oral Signs (at least one)
Unstimulated whole salivary
flow (≤1.5 mL in 15 minutes)
Abnormal parotid sialography3
Abnormal salivary scintigraphy4
VI. Autoantibodies (at least one)
Anti-SSA (Ro) or Anti-SSB (La)
66. https://www.sjogrens.org/home/research-programs/healthcare-providers/diagnosis-criteria
Sjögren syndrome
(American-European Consensus Sjögren
Classification Criteria: 2)
For a primary Sjögren diagnosis
a.Any 4 of the 6 criteria, must
include either item IV
(Histopathology) or VI
(Autoantibodies)
b.Any 3 of the 4 objective criteria
(III, IV, V, VI)
For a secondary Sjögren diagnosis
In patients with another well-defined
major connective tissue disease, the
presence of one symptom (I or II) plus
2 of the 3 objective criteria (III, IV and
V) is indicative of secondary SS.
Exclusion Criteria
Past head and neck radiation treatment, Hepatitis C infection, Acquired
immunodeficiency syndrome (AIDS), Pre-existing lymphoma, Sarcoidosis, Graft
versus host disease, Current use of anticholinergic drugs
67. http://rarediseases.org/rare-diseases/mixed-connective-tissue-disease-mctd/
Mixed Connective Tissue Disease
(Definition)
Mixed connective tissue disease (MTCD), or undifferentiated
connective tissue disease is a rare chronic autoimmune
inflammatory connective tissue disorder characterized by the
presence of high titers of a distinctive autoantibody anti-U1
ribonucleoprotein (RNP) what may be an overlapping group
of connective tissue disorders (e.g., systemic lupus
erythematosus, polymyositis, and scleroderma) that cannot
be diagnosed in more specific terms.
68. http://my.clevelandclinic.org/health/diseases_conditions/hic_Mixed_Connective_Tissue_Disease
Mixed Connective Tissue Disease
(Manifestation)
• MCTD combines features of scleroderma, myositis, systemic
lupus erythematosus, rheumatoid arthritis, dermatomyositis,
Raynaud’s phenomenon, etc. and is thus considered an overlap
syndrome.
• In the beginning stages, patients who have MCTD have
symptoms similar to those of patients with other connective
tissue disorders, including fatigue, muscle pain with no
apparent cause, joint fever, Raynaud phenomenon, severe
polymyositis, intense arthritis, aseptic meningitis, myelitis,
gangrene, abdominal pain, neuropathy, hearing loss.
74. http://www.medicalcriteria.com/criteria/reu_mctd.htm
Mixed Connective Tissue Disease
(Alarcon-Segovia Diagnostic Criteria)
• Serological criteria: Positive anti U1 RNP at hemagglutination titer
>1:1600
• 2. Clinical criteria:
• Oedema of hands
• Synovitis
• Myositis
• Raynaud´s
• Acrosclerosis
• Requirements:
• Serological
• At least 3 clinical features
• Association of hand oedema, Raynaud´s and acrosclerosis requires at
least one other feature
75. http://www.medicalcriteria.com/criteria/reu_mctd.htm
Mixed Connective Tissue Disease
(Kusukawa Diagnostic Criteria)
• Common Symptoms
• Reynaud´s Phenomenon
• Swollen fingers or hands
• Presence of Anti U1 RNP
• Mixed findings
• A. SLE like
• Polyarthritis
• Pericarditis/pleuritis
• Lymphadenopathy
• Facial erithema
• Leucopenia/thrombocytopenia
• B. Scleroderma like
• Sclerodactyly
• Pulmonary fibrosis
• Esophageal dysmotility
• C. Polymyositis like
• Muscle weakness
• High creatine phosphokinase
(CPK)
• Myophatic electromyogram
(EMG)
Requirement for diagnosis: At least one common symptom, with positive U1 RNP
antibodies and one or more findings in at least two of the three categories A, B, and C.
76. http://www.medicalcriteria.com/criteria/reu_mctd.htm
Mixed Connective Tissue Disease
(Standard Therapies)
• The treatment is based upon the specific symptoms present in each
case.
• Many of the manifestations of MCTD appear to respond to therapy
with corticosteroids such as prednisone.
• Mild forms appear to be controlled by nonsteroidal anti-inflammatory
drugs (NSAIDs) or low doses of corticosteroids. When more severe
involvement of major organs occurs, larger doses of corticosteroids
may be of benefit.
• In some cases, drugs that suppress the immune system (e.g. disease-
modifying antirheumatic drugs) have been used to treat individuals
with MCTD.
• Calcium channel blockers may be used to treat Raynaud's
phenomenon.
• Bosentan or sildenafil may be used to treat Pulmonary
hypertension.
77. http://www.ncbi.nlm.nih.gov/pubmed/16084324
Prognosis
• The prognosis for patients who have SCTD is different for
different diseases and varies from a benign course to severe
progressive course.
• There are many possible outcomes, depending on the organs
affected, the degree of inflammation, and how quickly the
disease progresses.
• In approximately one third of patients the clinical symptoms go
into long-term remission.
• One third of patients have a severe, progressive SCTD course.
• Persistent morbidity often is attributable to arthritis, easy
fatiguability, and dyspnea on exertion.
• Most deaths from SCTD are due to heart failure caused by
pulmonary arterial hypertension (PAH).
78. http://www.arc.org.uk/arthinfo/medpubs/6529/6529.asp
Prophylaxis
• Since the causes of SCTD are not known, there is no way of
preventing these diseases, however, lifestyle and
environmental factors if modified could assist in it.
• Progression some forms of SCTD could be prevented if
treated aggressively prior to manifestations of symptoms,
however, if such is the case, criteria would have to be
determined for patient selection for this preventive
treatment, and only those patients whose probability to
develop clinical disease exceeds the established threshold,
should be treated while asymptomatic.
79. Abbreviations
ACE – angiotensin converting
enzyme
AIDS - Acquired immunodeficiency
ANA - antinuclear antibody
syndrome
anti-ENA - anti-extractable nuclear
antigen
ARBs - angiotensin II receptor
antagonists
CPK - creatine phosphokinase
DIP - distal interphalangeal joints
DMARDs - disease-modifying
antirheumatic drugs
dsDNA - anti-double stranded DNA
antibodies
EMG - myophatic electromyogram
EULAR - European League Against
Rheumatism
KCS - keratosclerosis
LE - lupus erythematosus
MCP - metacarpophalangeal joints
MCTD - Mixed Connective Tissue Disease
MFS - Marfan syndrome
NSAIDS - nonsteroidal anti-inflammatory
drugs
PAH - pulmonary arterial hypertension
PIP - proximal interphalangeal joints
RNP - anti-U1 ribonucleoprotein
SCTD - systemic connective tissue diseases
SS - Sjögren's syndrome
SSc - systemic sclerosis
VEDOSS - Very Early Diagnosis Of GI -
gastrointestinal
80. Diagnostic and treatment guidelines
Marfan Syndrome
Medical Management of Marfan Syndrome MARFAN DX: A
Diagnostic Tool for Healthcare Professionals Systemic Lupus
Erythematosus (SLE) Treatment & Management
Systemic Lupus Erythematosus: Pathogenesis 20 and Clinical
Features
Guidelines for clinical trials in systemic sclerosis (scleroderma)
Systemic Sclerosis
Diagnosis and Management of Sjögren Syndrome
Sjogren Syndrome Treatment & Management
Mixed Connective Tissue Disease