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Screening for thrombophilia: a laboratory perspective.

Ian Jennings¹, Peter Cooper

¹UK NEQAS (Blood Coagulation), Rutledge Mews, 3 Southbourne Road, Sheffield, UK. ian@coageqa.org.uk

British Journal of Biomedical Science

|April 12, 2003

Summary

Thrombophilia testing aids in diagnosing blood clot risks. This review covers key laboratory assays for inherited and acquired thrombophilia, crucial for managing venous thromboembolism.

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Area of Science:

Clinical Medicine
Hematology
Laboratory Diagnostics

Background:

Venous thrombosis affects 1 in 1000 individuals annually, with pulmonary embolism a significant cause of death.
Thrombophilia, a predisposition to blood clots, is found in 25-30% of thromboembolic disease patients, and can be inherited or acquired.
Accurate diagnosis of thrombophilia is essential for effective patient management and prevention of recurrent events.

Purpose of the Study:

To review current laboratory testing strategies for thrombophilia diagnosis.
To highlight important considerations for laboratories performing thrombophilia assays.
To provide guidance on interpreting results in the context of clinical guidelines.

Main Methods:

Review of recently published guidelines on thrombophilia testing.
Discussion of recommended assays including protein C, protein S, antithrombin, activated protein C resistance, and antiphospholipid antibodies.
Consideration of genetic tests like polymerase chain reaction for prothrombin G20201A and coagulation screening tests.

Main Results:

Guidelines recommend a comprehensive panel of tests for thrombophilia diagnosis.
Specific assays include functional and genetic tests for common thrombophilic states.
Laboratories must address pre-analytical, analytical, and post-analytical factors for accurate testing.

Conclusions:

Standardized and validated laboratory testing is critical for diagnosing thrombophilia.
Understanding the nuances of each assay is essential for reliable results.
Effective thrombophilia testing supports personalized risk assessment and treatment strategies.

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