3. Clinical ManifestationsClinical Manifestations
Nutrient Malabsorbed Manifestation
Protein Wasting , edema
Carbohydrtaes and fat Weight loss, diarrhea, abd. Cramps
and bloating
Iron Anemia, angular stomatitis, nausea
Calcium/Vit. D Bone pain, tetany
Magnesium Paresthesia, tetany
Vit. B12/Folate Anemia, glossitis, paresthesias,
ataxia
Vit. E Peripheral neuropathy, ataxia,
retinopathy
Vit. A Night blindness
Vit. K Ecchymosis
Riboflavin Angular stomatitis
Selenium Cardiomyopathy
4. Diagnostic MethodsDiagnostic Methods
Stool analysis for fat
– Qualitative: Positive sudan stain indicates excretion of more than
15 gm/day.
– Quantitative: 72-hour fecal fat collection (abnormal if more than
20 gm/day while on a diet with 100-gm/day of fat
D-xylose absorption test
– This is a 5-carbon sugar which does not require digestion for
absorption. It is used to assess the intestinal mucosal integrity (25
gm oral dose…..5-hour urine sugar more than 5 gm or 2-hour
serum sugar more than 20 % of the oral dose
Testing for unabsorbed carbohydrate
– A stool pH less than 5 is virtually diagnostic
5. Diagnostic Methods-2Diagnostic Methods-2
Pancreatic function testing
– Measurement of HCO3 + total fluid output from the
duodenum after secretin stimulation
– Pancreatic chymotrypsin (Bentiromide test) to release
Paraaminobenzoic acid (PABA), which is excreted in
the urine; less than 60 % urinary excretion suggests
pancreatic insufficiency
– Measurement of stool pancreatic chymotrypsin and
elastase
Small bowel biopsy
6. Histopathology of Mucosal MalabsorptionHistopathology of Mucosal Malabsorption
SyndromesSyndromes
Normal: Villus to crypt ratio 3:1, columnar epithelial cells,
scattered mononuclear cells in the lamina propria
Disorders in which small intestinal biopsy is diagnositc
– Whipple’s disease: Blunting of villi, PAS-positive
macrophages in the lamina propria; bacteria by electron
microscopy
– Hypogammaglobulinemia: Partial villous atrophy; lack
of plasma cells and lymphcytic infiltrate; sometimes
nodular lymphoid hyperplasia
– Abetalipoproteinemia: enterocytes filled with lipid
droplets
– Amyloidosis: Amyloid deposition in the mucosa and
submucosa
7. Diagnostic Methods-3Diagnostic Methods-3
Bacterial overgrowth testing
– Direct culture of jejunal aspirates (+ if more than 100.000
organisms/ml)
– Bile acid Breath test
– Measurement of tryptophan metabolites(increased levels of
indacan and 5-HIAA
Small bowel x-rays
– Celiac disease: Pooling or flocculation of barium
– Whipple’s, lymphoma, amyloidosis, eosinophilic gastroenteritis:
Thick folds
Wireless capsule endoscopy
8. Causes of Intestinal Bacterial OvergrowthCauses of Intestinal Bacterial Overgrowth
Structural abn. Producing stasis of intestinal
contents (e.g. small bowel diverticula)
Fistulas (gastrocolic, jejunoileal,…)
Intestinal hypomotility (e.g.scleroderma,
amyloidois, DM,…)
Miscellaneous: hypogammaglobulinemia,
pernicious anemia,…
10. Pancreatic Exocrine InsufficiencyPancreatic Exocrine Insufficiency
A common cause of maldigestion of fat and proteins, leading
to steatorrhea and muscle wasting
Most common cause is chronic pancreatitis (mostly
secondary to alcohol use). Other causes include pancreas
divisum, hyperparathyroidism, cystic fibrosis and chronic
idiopathic pancreatitis
The diagnosis is established with both functional and
structural tests
The mainstay of treatment of the maldigestion and resulting
malabsorption is low-fat diet and pancreatic enzymes
Acid inhibition may be necessary to prevent inactivation of
lipase
11. Celiac SprueCeliac Sprue
Also called celiac disease and non-tropical sprue
A disorder characterized by malabsorption, abnormal small
bowel structure and intolerance to gluten
Prevalence: 1/150 to 1/300
Genetics:
– Increased incidence in siblings
– Possibly dominant gene of incomplete penetrance
– High prevalence of HLA-B8, DQ2 and DW3
Pathopysiology: Hypersensitivity to gluten and gliadin,
which are high-moplecular weight proteins found in wheat
– Toxic mechanism
– Immunologic mechanism
– Possible role of viral infection as a trigger
12. Celiac SprueCeliac Sprue
Effects of Gluten HypersensitivityEffects of Gluten Hypersensitivity
Damaged mucosa causes impaired absorption
Impaired secretion of secretin and CCK, causing
relative pancreatic insufficiency
Increased permeability of jejunal mucosa, leading
to increased secretion of water and electrolytes
Unabsorbed fatty acids cause increased colonic
secretion of water and electrolytes
13. Celiac SprueCeliac Sprue
Clinical FeaturesClinical Features
1/3 of cases with onset in the pediatric age, and
2/3 with onset in the adult/elderly
Diarrhea and iron-deficiency anemia are the most
common presenting manifestations
Other manifestations: weight loss, fatigue,
abdominal distension/bloating, steatorrhea,
emotional disturbances, splenic atrophy, dermatitis
herpetiformis,…
14. Celiac SprueCeliac Sprue
HistopathologyHistopathology
Duodenum and proximal jejunum most commonly
involved
Lesions may be patchy; false negatives possible
Typical findings:
– Flat mucosa (short or absent villi)
– Hypertrophied crypts
– Damaged surface epithelium
– Mononuclear infiltrate
15.
16.
17.
18.
19. Celiac SprueCeliac Sprue
SerologySerology
Anti-gliadin Ab (IgG and IgA)
Anti-endomysial Ab (IgG and IgA)
Anti-TTG (Tissue TransGlutaminase): most
specific
Always check total serum IgA….Selective IgA
deficiency can be an issue
20. Celiac SprueCeliac Sprue
Diagnostic criteriaDiagnostic criteria
Histopathology is NOT pathognomonic
3 criteria are needed:
– Evidence of malabsorption
– Abnormal biopsy
– Clinical, biochemical, and histological
improvement on gluten-free diet
22. Celiac SprueCeliac Sprue
TreatmentTreatment
80 % of patients improve on gluten-free diet
Non-responders should raise the suspicion for:
– Incorrect diagnosis
– Noncompliance with the diet
– Associated disease (e.g. pancreatic insufficiency)
– Complicated disease (e.g. lymphoma, collagenous
sprue, ….
50 % of non-responders will respond to
glucocorticoids
23. Q.1Q.1
. A 25-year-old dental technician has noticed a 10-pound. A 25-year-old dental technician has noticed a 10-pound
weight loss despiteweight loss despite
increased appetite, generalized weakness, andincreased appetite, generalized weakness, and
constipation with infrequent butconstipation with infrequent but
unusually voluminous and malodorous stools. On physicalunusually voluminous and malodorous stools. On physical
examination, he is thin,examination, he is thin,
pale, and appears tired. His abdomen is protuberant butpale, and appears tired. His abdomen is protuberant but
soft. Labs reveal asoft. Labs reveal a
microcytic anemia. Which of the following ismicrocytic anemia. Which of the following is leastleast likely tolikely to
be helpful?be helpful?
24. A. Upper endoscopy
B. 72-hour stool collection for fecal
fat
C. CT scan of the abdomen
D. Anti-endomysial antibodies
E. Colonoscopy
25. Q.2Q.2
.. A 56-year-old man has had profuseA 56-year-old man has had profuse
watery diarrhea for three months.watery diarrhea for three months.
Measured stool electrolytes are asMeasured stool electrolytes are as
follows: Na_ 30 mmol/L, K+ 85 mmol/L,follows: Na_ 30 mmol/L, K+ 85 mmol/L,
Cl− 15Cl− 15
mmol/L, and HCO3mmol/L, and HCO3
− 18 mmol/L. Which diagnosis is− 18 mmol/L. Which diagnosis is leastleast
likely?likely?
27. Q.4Q.4
A 46-year-old man had profuse diarrhea for two months. He notes that the
diarrhea continues throughout the day. Fasting does not decrease the
diarrheal episodes. He has tried using loperamide, but the relief is
temporary. He notes a – 10 pound weight loss over the last two months. He
notes that he is not taking any medications except for the loperamide.
Upon questioning, he recently quit smoking and has been chewing a lot of
sugarless gum. You measure his stool electrolytes.
The results are as follows:
Na+ 40 mmol/L
K+ 90 mmol/L
Cl− 15 mmol/L
HCO3
− 18 mmol/L
What is the most likely diagnosis?
28. A. Lactase deficiency
B. Sucrase deficiency
C. VIPoma
D. Inadvertent excess sorbitol ingestion (e.g., through gum
chewing)
29. Tropical SprueTropical Sprue
Malabsorption disorder caused by traveling to
tropical regions, probably secondary to E. coli,
klebsiella pneumonia or folic acid deficiency
The histology and manifestations are similar to
celiac disease, but less severe.
The entire small intestine is involved on histology
The anemia is megaloblastic, NOT microcytic
Treatment is with tetracyclineor bactrim for at
least 6 months + folic acid and vit B12
30. Q.3Q.3
A 40-year-old man complains of crampy abdominal pain associated with
intermittent loose stools for the last three months. He had been healthy
until he developed a week of severe diarrhea while visiting India. He then
took tronidazole for a week.
The diarrhea was resolving by then but evolved soon afterward into his
current symptoms. He finds that eating precipitates his symptoms although
his
weight is stable. Physical examination is unremarkable. Stool microscopy is
negative
and labs are unrevealing. Which of the following diagnoses is the most likely
explanation for his current symptoms?
32. Q.6Q.6
. A 62-year-old man presents complaining of abdominal pain and
diarrhea. He notes that the symptoms have been going on for three
months now and he has lost about 20 pounds over that span. He also
complains of migratory arthralgias for the past year. He denies any
past medical history. He never smoked cigarettes and drinks about two
beers per week. He denies use of illicit drugs. A review of records
from an evaluation done by another physician reveals a normal
thyroid-stimulating hormone level, negative ANA, a normal
sedimentation rate, and a negative HIV test.
He had a flexible sigmoid oscopy done, which failed to reveal any
abnormalities. You refer him for upper endoscopy and a duodenal
biopsy is done, which reveals extensive PAS-positive material in the
lamina propria and villous atrophy. What is
the most appropriate therapy for this patient?
33. A. A gluten-free diet
B. A lactose-free diet
C. Cholestyramine
D. Trimethoprim/sulfamethoxazole
E. Prednisone
34. WhippleWhipple’’s Diseases Disease
Systemic disease caused by Tropheryma
Whippleii
Adult males most commonly affected
Manifestations: Diarrhea, weight loss, abdominal
pain, arthralgias, non-deforming arthritis, fever,
lymphadenopathy, neurological and cardiac
manifestations
Histology: Dilated lacteals and lamina propria
containing PAS-positive macrophages
Treatment: Bactrim for 1 year
35. Q.9Q.9
A 55-year-old white man presents with a 6-month
history of weight loss and arthralgias. He reports no
anorexia but has had diarrhea with up to 4 loose stools
daily. He has migratory pain involving the shoulders,
elbows, and knees. On physical examination, he has
skin hyperpigmentation and oculomasticatory
myorhythmia.
A 72-hour stool collection shows 32 g of fat per 24
hours. Which test is most likely to be positive or
diagnostic for this patient?
36. a. Measurement of serum IgA and IgG tissue
transglutaminase antibodies .
b. Measurement of serum IgA and IgG
deamidated gliadin antibodies.
c. Small bowel biopsy showing enlarged villi
with periodic acid-Schiff (PAS)-positive
macrophages
d. Small bowel biopsy showing villous atrophy
and crypt hyperplasia
e. Duodenal aspirates showing more than
100,000
colony-forming units (CFU)/mL
37. Q.8Q.8
A 40-year-old woman who has iron defi ciency
anemia began receiving oral iron therapy
without response. She reports no
gastrointestinal tract complaints or heavy
menses. She has a normal appetite and reports
no weight loss. Th ere is no family history of
colon cancer or infl ammatory bowel disease.
Fecal occult blood testing of the stool is
negative. Which test should be performed next?
38. A. Measurement of serum IgA and IgG tissue
transglutaminase antibodies
B. Upper endoscopy with small bowel biopsies
C. Capsule endoscopy
D. Small bowel follow-through
E. Stool evaluation for ova and parasites
39. HypogammaglobulinemiaHypogammaglobulinemia
Malabsorption occurs, especially with IgA
deficiency
Clinico-pathologic features:
– Nodular lymphoid hyperplasia
– Presence of Giardia lamblia
– Flattened or absent villi
– Absent plasma cells
– Increased lymphocytic infiltration
Treatment: Metronidazole and IVIG
42. MRI showing an
enterocutaneous fistula (arrow)
in a patient with ileocolic
Crohn's disease.
contrast enema shows a contracted
ulcerated rectum (large arrow),
with stricture formation involving
the distal rectum (smaller arrows).
The contrast is seen to fill the
51. Q .13Q .13
. A 54-year-old man is evaluated by a gastroenterologist
for diarrhea that has been present for approximately 1
month. He reports stools that loat and are dificult to lush
down the toilet; these can occur at any time of day or
night but seem worsened by fatty meals. In addition, he
reports pain in many joints lasting days to weeks and not
relieved by ibuprofen. His wife notes that the patient has
had dificulty with memory for the last few months. He
has lost 30 pounds and reports intermittent low-grade
fevers. He takes no medications and is otherwise
healthy. Endoscopy is recommended. Which of the
following is the most likely binding on small bowel
biopsy?
52. A. Dilated lymphatics
B. Flat villi with crypt hyperplasia
C. Mononuclear cell iniltrate in the lamina propria
D. Normal small bowel biopsy
E. Periodic acid–Schif (PAS)–positive
macrophages containing small bacilli