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Hemostasis is a crucial process that prevents excessive blood loss from damaged blood vessels. It involves various mechanisms such as vasoconstriction, platelet adhesion and activation, and fibrin formation. The importance of each mechanism depends on the type of vessel injury. In contrast, thrombosis is the abnormal formation of a blood clot within the blood vessels, leading to potential complications if the clot obstructs blood flow. Thrombosis can be caused by increased coagulability of the...
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Updated: Jun 21, 2026

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
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Published on: September 9, 2012

[Inherited thrombophilia].

V De Stefano1

  • 1Istituto di Ematologia, Universita' Cattolica, Largo Gemelli, 8 00168 Roma, Italy. valerio.destefano@rm.unicatt.it

Giornale Italiano Di Nefrologia : Organo Ufficiale Della Societa Italiana Di Nefrologia
|August 1, 2009
PubMed
Summary
This summary is machine-generated.

Screening for inherited thrombophilia is recommended for all patients with venous thromboembolism, except those with high-risk conditions like cancer. Testing includes specific blood assays and DNA analysis for genetic factors, improving diagnosis rates.

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Area of Science:

  • Hematology
  • Genetics
  • Clinical Medicine

Context:

  • The traditional view of inherited thrombophilia as the primary cause of unprovoked venous thrombosis in young individuals is increasingly challenged.
  • Many diagnosed cases do not fit this paradigm, necessitating broader screening criteria.

Purpose:

  • To evaluate the diagnostic yield of inherited thrombophilia screening in patients with venous thromboembolism (VTE).
  • To define an optimal screening panel for inherited thrombophilia, balancing inclusion criteria with laboratory test stringency.

Summary:

  • All patients with VTE are potential candidates for screening, irrespective of age, circumstances, or severity, excluding those with concurrent high-risk conditions like cancer.
  • Recommended first-line tests include antithrombin, protein C, and protein S assays, alongside DNA analysis for factor V Leiden and prothrombin G20210A.
  • Homocysteine measurement is advised, potentially identifying an additional 10% of thrombophilia cases, leading to an overall diagnostic yield exceeding 40%.

Impact:

  • Broadens the scope of inherited thrombophilia screening beyond young individuals with unprovoked VTE.
  • Provides a cost-effective and efficient diagnostic strategy for identifying thrombophilia, aiding in personalized risk assessment and management.
  • Highlights the importance of homocysteine measurement in conjunction with genetic testing for comprehensive thrombophilia diagnosis.