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Screening for inherited thrombotic disorders.

J Conard1, M H Horellou, M M Samama

  • 1Laboratoire Central d'Hématologie, Hôtel-Dieu, Paris.

La Ricerca in Clinica E in Laboratorio
|October 1, 1989
PubMed
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Screening for inherited thrombotic disorders requires careful patient selection, focusing on those with early-onset venous thrombosis, family history, or unusual arterial events. Identifying specific coagulation abnormalities is key, though less than 30% of selected patients show a disorder.

Area of Science:

  • Hematology
  • Genetics
  • Clinical Medicine

Background:

  • Inherited thrombotic disorders predispose individuals to thrombosis.
  • Low prevalence of biological alterations necessitates patient selection for effective screening.

Purpose of the Study:

  • To establish a screening scheme for inherited thrombotic disorders.
  • To review predisposing abnormalities and guide patient and test selection.

Main Methods:

  • Review of documented venous thromboses, especially in young patients (<40) with a positive family history.
  • Inclusion criteria: skin necrosis with anticoagulants, recurrent superficial vein thrombosis, unexplained arterial occlusions.
  • Selection of diagnostic tests, including those for antithrombin III, protein C, and protein S deficiencies, and routine coagulation tests.

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Main Results:

  • Selected patients with venous thrombosis and family history frequently have coagulation abnormalities.
  • Specific deficiencies (antithrombin III, protein C, protein S) are recognized risk factors.
  • Routine tests can detect some abnormalities, while others require specific assays (e.g., fibrinolysis).

Conclusions:

  • A comprehensive screening approach involves careful patient selection and appropriate test selection.
  • Verification of isolated abnormalities and their causal relationship to thrombosis is crucial.
  • Current screening detects coagulation disorders in less than 30% of selected patients, highlighting the need for improved diagnostic methods.