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Thrombophilic disorders increase thrombosis risk. Accurate diagnosis of hereditary conditions like Factor V Leiden and acquired causes requires careful exclusion of other factors and repeated testing, especially for antiphospholipid syndrome.

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Area of Science:

  • Hematology
  • Clinical Pathology
  • Genetics

Background:

  • Thrombophilic disorders elevate thrombosis risk, encompassing hereditary and acquired conditions.
  • Common hereditary thrombophilias in Caucasians include Factor V Leiden and prothrombin G20210A mutations.
  • Deficiencies in natural anticoagulants (antithrombin, protein C, protein S) are identified via immunologic and activity assays.

Purpose of the Study:

  • To outline diagnostic approaches for thrombophilic disorders.
  • To emphasize the importance of excluding confounding factors in diagnosing inhibitor deficiencies.
  • To detail the diagnostic criteria for antiphospholipid syndrome (APS).

Main Methods:

  • Direct DNA genotyping for Factor V Leiden and prothrombin G20210A mutations.
  • Immunologic antigen and activity assays for antithrombin, protein C, and protein S.
  • Clot-based and solid-phase immunoassays for antiphospholipid syndrome screening (lupus anticoagulants, anti-cardiolipin, anti-β-2-glycoprotein-I antibodies).

Main Results:

  • Hereditary thrombophilias are often detected by DNA genotyping.
  • Acquired conditions and pre-analytical errors frequently mimic hereditary deficiencies of natural anticoagulants.
  • Antiphospholipid syndrome diagnosis requires persistent antiphospholipid antibodies and clinical features.

Conclusions:

  • Diagnosing hereditary thrombophilias necessitates excluding acquired causes and repeating tests to confirm deficiencies.
  • Accurate diagnosis of thrombophilia requires careful consideration of patient history and multiple validated assays.
  • Antiphospholipid syndrome diagnosis is confirmed by persistent antibody presence and associated clinical manifestations.