Cohort Definition Name: “Antiphospholipid syndrome”
Contributor name: Joel N. Swerdel
Contributor OrcId: 0000-0001-9491-2737
Logic Description: First occurrence of Antiphospholipid syndrome.
Recommended study application: outcome, indication
Assertion statement: This cohort definition was executed on at least one real person-level observational health data source and resulted in a cohort with at least 1 person.
Submitted cohort definition:
antiPhos.txt (1.3 KB)
Target Clinical Description
Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by the presence of antiphospholipid antibodies in the blood. These antibodies target phospholipids, which are essential components of cell membranes. The presence of these antibodies can lead to an increased risk of abnormal blood clotting, affecting both veins and arteries. APS can occur as a primary condition or in association with other autoimmune diseases, such as systemic lupus erythematosus. It primarily affects women of childbearing age but can also occur in men and individuals of any age. APS is associated with various complications, including recurrent blood clots, pregnancy complications, and an increased risk of certain cardiovascular conditions.
Presentation for antiphospholipid syndrome:
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Recurrent blood clots, such as deep vein thrombosis (DVT) or pulmonary embolism
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Pregnancy complications, including miscarriages, stillbirths, or preterm births due to placental insufficiency
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Thrombocytopenia (low platelet count)
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Skin manifestations, such as livedo reticularis (a mottled or net-like rash) or skin ulcers
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Neurological symptoms, including strokes, transient ischemic attacks (TIAs), or cognitive impairment
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Cardiac manifestations, such as heart valve abnormalities or myocardial infarction
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Kidney problems, such as renal artery thrombosis or glomerulonephritis
Assessment for antiphospholipid syndrome:
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Blood tests to detect the presence of antiphospholipid antibodies, including anticardiolipin antibodies, lupus anticoagulant, and anti-beta-2-glycoprotein I antibodies
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Imaging studies, such as Doppler ultrasound or angiography, to assess blood flow and detect any clots or abnormalities
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Evaluation of medical history, including a history of blood clots, pregnancy complications, or autoimmune disorders
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Assessment of organ function, including kidney function and cardiac evaluations
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Monitoring for signs and symptoms of thrombosis, such as swelling, pain, or shortness of breath
Differential diagnoses for antiphospholipid syndrome:
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Lupus anticoagulant syndrome: Similar to APS, but without the presence of other antiphospholipid antibodies and less associated with clinical manifestations of APS.
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Other autoimmune diseases, such as systemic lupus erythematosus, rheumatoid arthritis, or Sjögren’s syndrome, which can have overlapping features with APS.
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Thrombophilia disorders: Inherited or acquired conditions that increase the risk of abnormal blood clotting, such as deficiencies in antithrombin, protein C, or protein S.
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Other causes of recurrent blood clots, such as factor V Leiden mutation or hyperhomocysteinemia.
Treatment plan for antiphospholipid syndrome:
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Anticoagulant therapy: Individuals with APS who have experienced blood clots are typically prescribed long-term anticoagulant medications, such as warfarin or direct oral anticoagulants (DOACs), to prevent further clot formation.
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Aspirin therapy: Low-dose aspirin may be recommended for individuals with APS, particularly those with a history of pregnancy complications, to reduce the risk of clot formation.
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Management of risk factors: Lifestyle modifications, such as smoking cessation, weight management, and regular exercise, may be advised to reduce cardiovascular risk factors.
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Pregnancy management: Pregnant individuals with APS require close monitoring and may receive anticoagulant and low-dose aspirin therapy to prevent pregnancy complications.
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Treatment of associated conditions: If APS is secondary to an underlying autoimmune disease, treatment of the primary condition is essential to manage APS symptoms.
Prognosis for antiphospholipid syndrome: The prognosis for individuals with antiphospholipid syndrome varies depending on several factors, including the presence of associated autoimmune diseases, the severity of symptoms, and the presence of complications such as recurrent blood clots or pregnancy complications. With appropriate management, including anticoagulant therapy and lifestyle modifications, the risk of blood clots and associated complications can be significantly reduced. However, lifelong monitoring and adherence to treatment are typically necessary. Pregnant individuals with APS require specialized care and close monitoring during pregnancy. With appropriate management, many individuals with APS can lead productive lives and successfully manage their condition to minimize the risk of complications.