Diagnosis of antiphospholipid syndrome
- Doruk Erkan, MD, MPH
Doruk Erkan, MD, MPH
- Associate Attending Rheumatologist, Hospital for Special Surgery
- Associate Professor of Medicine, Weill Cornell Medicine
- Thomas L Ortel, MD, PhD
Thomas L Ortel, MD, PhD
- Professor of Medicine & Pathology
- Hemostasis & Thrombosis Center, Duke University
- Section Editor
- David S Pisetsky, MD, PhD
David S Pisetsky, MD, PhD
- Section Editor — Lupus
- Professor of Medicine and Immunology
- Duke University Medical Center
Antiphospholipid syndrome (APS) is characterized by venous or arterial thrombosis and/or an adverse pregnancy outcome in the presence of persistent laboratory evidence of antiphospholipid antibodies (aPL). APS occurs either as a primary condition or in the setting of an underlying disease, usually systemic lupus erythematosus (SLE).
The diagnosis of APS will be reviewed here. The clinical manifestations and treatment of this disorder are presented separately. (See "Pathogenesis of antiphospholipid syndrome" and "Clinical manifestations of antiphospholipid syndrome" and "Treatment of antiphospholipid syndrome".)
The effect of aPL on coagulation tests is also discussed separately. (See "Clinical use of coagulation tests".)
●Antiphospholipid syndrome – Antiphospholipid syndrome (APS) is a systemic autoimmune disorder characterized by venous or arterial thrombosis and/or pregnancy morbidity in the presence of persistent laboratory evidence of antiphospholipid antibodies (aPL) . APS occurs as a primary condition, or it can occur in the presence of systemic lupus erythematosus (SLE) or another systemic autoimmune disease.
●Antiphospholipid antibodies – aPL are a heterogeneous group of antibodies directed against phospholipid-binding proteins . The aPL included in international classification criteria are anticardiolipin (aCL) antibody (immunoglobulin G [IgG] or IgM), anti-beta2-glycoprotein (GP) I antibody (IgG or IgM), and lupus anticoagulant (LA) (see 'Classification criteria' below). Although cardiolipin is a phospholipid, most of the clinically relevant antibodies detected in this assay are actually binding to phospholipid-binding protein(s), frequently beta2-GP I, that bind to the cardiolipin in the assay. There are other aPL that are not included in international classification criteria (eg, antibodies directed against prothrombin, phosphatidylserine, or phosphatidylinositol) which are not routinely obtained because of lack of standardized testing and uncertainty about their clinical significance. (See 'Antiphospholipid antibody testing' below.)
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- WHEN TO SUSPECT THE DIAGNOSIS
- DIAGNOSTIC EVALUATION
- Physical examination
- Antiphospholipid antibody testing
- - Timing of testing
- - Patients on an anticoagulant
- - Interpretation of positive results
- Evaluation for other conditions
- CLASSIFICATION CRITERIA
- Patients who meet classification criteria
- Patients who do not meet classification criteria
- DIFFERENTIAL DIAGNOSIS
- Other causes of thrombosis
- Other causes of recurrent pregnancy loss
- Asymptomatic individuals with aPL
- - Transient aPL
- - Persistent medium or high titer aPL
- Other conditions associated with aPL
- INFORMATION FOR PATIENTS
- SUMMARY AND RECOMMENDATIONS