Published on March 10, 2014
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).
Pathogenesis of Antiphospholipid syndrome
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 memory problems dizziness and balance difficulties mobility problems vision problems (double vision) joint pain fatigue
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 following symptoms: a sharp, stabbing, chest or upper back pain shortness of breath feeling light-headed coughing up blood-streaked sputum
A blood clot can block the blood supply to the: Brain - Strokes and mini-strokes (Transient Ischaemic Attacks): slurred speech numbness or weakness in the arm or leg paralysis of the face Heart - Heart attacks: chest pain pain in other parts of the body (travelling outwards from the chest) an overwhelming sense of anxiety (similar to having a panic attack) 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 abdominal pain blood in your urine (haematuria) confusion seizures coma
Epidemiology 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 female population. 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 reported.
Risk factors The risk factors for antiphospholipid syndrome include: Disorders: Lupus, Sjogren's syndrome or other autoimmune disorders. Infections: Hepatitis C, syphilis, cytomegalovirus (CMV), the parvovirus B19. Medications: Hydralazine and some anti-epileptic drugs. Genetics: People who have a family member with APS have higher chances. 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.
Medical History 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 Institute, 2012). 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 (NHS, 2013). 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 (NHS, 2013).
Blood Tests 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, 2013).
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).
Differential diagnosis 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 drinking. Avoid any active activities to prevent possible injuries. Life long Anticoagulation therapy. Intensive anticoagulation, plasma exchange and some corticosteroids for catastrophic antiphospholipid syndrome.
Anti-coagulation drug warfarin: reduces vitamin K required for blood clotting. Maintain target INR (International Normalised Ratio) between 2.0-3.0. 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 effect. Antifactor Xa drugs such as rivarobaxan and apixaban have antithrombotic properties. Thrombin inhibitors. 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 treatment.
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