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Antiphospholipid syndrome (APS or APLS) or antiphospholipid antibody syndrome is a disorder of coagulation, which causes blood clots (thrombosis) in both arteries and veins, as well as pregnancy-related complications such as miscarriage, preterm delivery, or severe preeclampsia. The syndrome occurs due to the autoimmune production of antibodies against phospholipid (aPL), a cell membrane substance. In particular, the disease is characterised by antibodies against cardiolipin (anti-cardiolipin antibodies) and ß2 glycoprotein I.
The term “primary antiphospholipid syndrome” is used when APS occurs in the absence of any other related disease. APS is commonly seen in conjunction with other autoimmune diseases; the term “secondary antiphospholipid syndrome” is used when APS coexists with other diseases such as systemic lupus erythematosus (SLE). In rare cases, APS leads to rapid organ failure due to generalised thrombosis and a high risk of death; this is termed “catastrophic antiphospholipid syndrome”.
Antiphospholipid syndrome is sometimes referred to as Hughes syndrome after the rheumatologist Dr. Graham R.V. Hughes (St. Thomas’ Hospital, London, UK) who worked at the Louise Coote Lupus Unit at St Thomas’ Hospital in London.
The presence of antiphospholipid antibodies (aPL) in the absence of blood clots or pregnancy-related complications does not indicate APS (see below for the diagnosis of APS).
Antiphosphilipid syndrome can cause (arterial/venous) blood clots (in any organ system) or pregnancy-related complications. In APS patients, the most common venous event is deep vein thrombosis of the lower extremities (blood clot of the deep veins of the legs) and the most common arterial event is stroke. In pregnant women affected by APS, miscarriage can occur prior to 20 week of gestation, while pre-eclampsia is reported to occur after that time. Placental infarctions and early deliveries are also reported in women with APS. In some cases, APS seems to be the leading cause of mental and/or development retardation in the newborn, due to a aPL-induced inhibition of trophoblast differentiation.
Other common findings, although not part of the APS Classification Criteria, are thrombocytopenia (low platelet count), heart valve disease, and livedo reticularis (a skin condition). Some patients report headaches and migraines. Antiphospholipid syndrome can rarely mimic multiple sclerosis with an estimated 10% of patients misdiagnosed.
Very few patients with primary APS go on to develop SLE.
Antiphospholipid syndrome is tested for in the laboratory using both liquid phase coagulation assays (lupus anticoagulant) and solid phase ELISA assays (anti-cardiolipin antibodies).
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