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Antiphospholipid syndrome (APS), also known as Hughes
syndrome, is a autoimmune system disorder caused by
antiphospholipid antibodies which raises the risk of blood
clots occurring in vessels (Koniari et al., 2010).
It is estimated that Hughes syndrome affects 1 out of every
200 people in the UK alone. The severity of the condition is
dependent on the region where thrombosis occurs, but can
lead to heart attacks, strokes and in pregnancy, to still
births, miscarriage and severe pre-eclampsia. Pre-eclampsia
may progress to „eclampsia‟, which is a serious condition
that causes seizures in pregnant women.
The disease was first described by British doctor Graham RV
Hughes in 1983 following the documentation of patients
who also displayed a positive lupus (ANA) test but a “false
positive” tests for syphilis. A result often observed with the
medical condition Lupus (Hughes, 2011).
However it later became apparent, patients with
anticardiolipin also displayed characteristic clinical
symptoms leading to the conclusion that APS was not
restricted to Lupus but could occur in isolation.
Current research by Dr Abrahams at Yale University has
found the use of a combination of Anti-malaria drug
hydroxychloroquine could be utilized in the prevention of
pregnancy complications (Peart, 2014).
Antiphospholipid syndrome is an autoimmune
disorder (National Health Service, 2013).
Antiphospholipid syndrome is characterized by
causing venous or arterial thrombosis or pregnancy
morbidity (Moore, 2010).
Antiphospholipid syndrome is caused by the immune
system producing antibodies against phospholipids.
The main pathological antibodies associated with
antiphospholipid syndrome are anti-β2-GP1 (Austin
and Cohen, 2009).
As antiphospholipid syndrome (APS) is a blood disorder;
nearly any organ (the brain, eyes, ears, lungs, heart,
kidneys, liver, bowel, skin, bones and joints) can potentially
be affected to varying degrees.
Typical low-grade symptoms include:
headaches and migraines
dizziness and balance difficulties
vision problems (double vision)
Common acute conditions
Blood clotting can occur in one of the body's larger,
deeper veins, causing pain and swelling, typically in
the calf or thigh (Deep vein thrombosis or DVT).
A blood clot that develops in one of the legs can travel up
into the lungs (Pulmonary embolism) and cause the
a sharp, stabbing, chest or upper back pain
shortness of breath
coughing up blood-streaked sputum
A blood clot can block the blood supply to the:
Brain - Strokes and mini-strokes (Transient Ischaemic
numbness or weakness in the arm or leg
paralysis of the face
Heart - Heart attacks:
pain in other parts of the body (travelling outwards from the
an overwhelming sense of anxiety (similar to having a panic
shortness of breath
Other less common conditions associated with APS are:
Pulmonary hypertension - high blood pressure in the
arteries that supply the lungs.
Low platelet count (Thrombocytopenia) - people
with very low counts may bruise easily or experience
excessive (internal or external) bleeding.
Skin rash - Some people develop a blotchy red rash
with a lacy, net-like pattern (livedo reticularis) on their
wrists and knees.
Complication of APS
Catastrophic antiphospholipid syndrome (CAPS)
This is a rare but extremely life-threatening complication of APS. It
occurs in less than 1% of people with APS. In people who develop
CAPS, blood clots suddenly form throughout the body in various vital
organs, including the brain, heart, lungs or liver, resulting in multiple
organ failure. The reason for this is unclear. However, one case in five
occurs after an infection, trauma or surgery. Symptoms include:
loss of blood supply to the tips of your fingers or toes, causing them to
go dark blue or black
swollen ankles, feet or hands
blood in your urine (haematuria)
APS occurring alone is referred to as primary APS, and when it occurs in
relation with other autoimmune diseases namely systemic lupus
erythematosus (SLE), it is termed as secondary APS.
Prevalence - APS can take place in an healthy individual even if he/she
does not have primary APS or SLE. The prevalence of antiphospholipid
antibodies ranges from 1%-10% in general population, 16% in patients
with rheumatoid arthritis and 30%-40% in patients with SLE.
Race - SLE is common in African American and Hispanic population.
However, no racial prevalence for primary APS has yet been documented.
Sex - Secondary APS in particular along with association of APS with
SLE and related connective tissue diseases are found to be common in
Age - APS tends to be more common in young to middle aged adults,
evident in children, elderly and also in children as young as 8 months were
The risk factors for antiphospholipid syndrome include:
Disorders: Lupus, Sjogren's syndrome or other autoimmune
Infections: Hepatitis C, syphilis, cytomegalovirus (CMV), the
Medications: Hydralazine and some anti-epileptic drugs.
Genetics: People who have a family member with APS have
Gender: Young and middle-aged women are more likely to
develop APS than males.
Some people might have antibodies linked to APS, but do not have
any signs or symptoms. However, they could develop symptoms
if they are obese, pregnant, have hypertension, high cholesterol
levels, undergone hormone replacement therapy or any surgery,
smoke tobacco and consume oral contraceptives.
APS antibodies may be present without any signs or symptoms of the
disorder. The presence of APS antibodies doesn‟t necessarily mean
that the patient is suffering from this disorder. To be diagnosed with
APS, the patient must have APS antibodies and a history of health
problems related to the disorder (National Heart, Lung, and Blood
Once the blood tests confirm that the patient is suffering from APS,
patient‟s medical history needs to be assessed to check if they have
experienced any previous symptoms that may be caused by APS
A diagnosis of APS can usually be confirmed if the patient has had
one or more confirmed blood clots, one or more premature births, at
or before week 34 of her pregnancy, one or more unexplained late
miscarriages, at or after week 10 of her pregnancy and three or more
unexplained early miscarriages, before week 10 of her pregnancy
Blood tests need to be carried out to detect abnormal
antiphospholipid antibodies which increase the risk of
blood clots. Since, APS cannot be detected during
routine blood tests, so tests specifically designed to
detect these antibodies need to be carried out (NHS,
The three main types of antibodies that can be measured during these
blood tests are called: anti-cardiolipin, anti-beta2 glycoprotein I
(β2GPI) and lupus anticoagulant (Bermas et al., 2014; National Heart,
Lung, and Blood Institute, 2012; NHS, 2013). To carry out the blood
test, a small blood sample is drawn from a vein in the arm using a
needle. The procedure usually is easy and quick; however, it may cause
some short-term discomfort and a slight bruise (National Heart, Lung,
and Blood Institute, 2012).
If antiphospholipid antibodies are identified during the first blood test,
another test needs to be carried out at a later date to confirm whether
the abnormal antibodies are still present. This is because a single
positive test can result from harmless antiphospholipid antibodies,
which sometimes develop in the body for short periods of time, often as
a result of an infection or as a side effect of medication, such as
antibiotics. Therefore, two abnormal blood tests with at least a 12-week
gap between them are required for APS to be diagnosed (National
Heart, Lung, and Blood Institute, 2012; NHS, 2013).
The differential diagnosis of antiphospholipid syndrome (APS)
depends upon the presenting clinical manifestations. Antibodies
(aPL) may coexist with other conditions and have a synergistic
effect on the development of clinical events (Bermas et al., 2014).
Thrombosis such as venous and arterial thrombosis can be
distinguished from aPL, if there is lack of initial positive testing for
aPL or if failure to confirm positive results after 12 weeks. APS
with central nervous system manifestations can be challenging in
distinguishing from other diseases with white matter lesions, such as
multiple sclerosis or lupoid sclerosis. In these situations, multiple
sclerosis can be diagnosed by the presence of characteristic spinal
fluid abnormalities, since the latter can have the presence of nonpathogenic aPL (Bermas et al., 2014).
Since common occurrence of thrombotic microangiopathic
disease affects multiple organs, therefore, several
conditions may be difficult to distinguish from
catastrophic APS. Such diseases include: HELLP
syndrome (of haemolysis, elevated liver enzymes, and
low platelets with pregnancy), Sepsis with multi organ
failure and disseminated intravascular coagulation (DIC).
Nearly half of the patients who develop catastrophic APS
have not had a prior history of thrombosis. Thus, a high
level of suspicion and testing for aPL are necessary in
these clinical settings (Bermas et al., 2014).
Eliminate the risk factors such as smoking and
Avoid any active activities to prevent possible injuries.
Life long Anticoagulation therapy.
Intensive anticoagulation, plasma exchange and some
corticosteroids for catastrophic antiphospholipid
Anti-coagulation drug warfarin: reduces vitamin K
required for blood clotting.
Maintain target INR (International Normalised Ratio)
Low dose aspirin or clopidogrel also used.
In pregnancy, heparin and aspirin used; warfarin can
cause birth defects.
Summary of the treatment of antiphospholipid syndrome (Lim, 2013).
Statins and hydroxychloroquine have anti inflammatory
Antifactor Xa drugs such as rivarobaxan and apixaban
have antithrombotic properties.
B-cell depletion therapy by rituximab.
Despite being a potentially life-threatening condition, the
general prognosis for most patients is good, and with the
correct treatment and lifestyle changes, the majority of
patients can lead a relatively normal, healthy life, provided
they continue with their medication.
Approximately 75% to 80% of women with
antiphospholipid syndrome who receive treatment are able
to have healthy, full-term pregnancies.
However, unfortunately a small number of people with APS
continue to experience blood clots despite having extensive