Which Thrombophilia Tests Really Matter? – ICHCC
Iranian Comprehensive Hemophilia Care Center (ICHCC) shared a post on LinkedIn:
“Thrombophilia Testing: Which Tests Really Matter?
Although thrombophilia panels are frequently requested, not all tests provide the same clinical value. Current guidelines emphasize identifying thrombophilic conditions with proven impact on patient management.
Key Tests for Inherited Thrombophilia
- Factor V Leiden Mutation
The most common inherited thrombophilia in many populations.
- Prothrombin G20210A Mutation
The second most common inherited genetic risk factor for venous thrombosis.
- Protein C Activity
Deficiency is associated with an increased risk of venous thromboembolism (VTE).
- Protein S Activity
Both inherited and acquired deficiencies may predispose to thrombosis.
- Antithrombin Activity
One of the highest-risk inherited thrombophilic disorders.
Key Tests for Acquired Thrombophilia
- Lupus Anticoagulant (LA)
- Anticardiolipin Antibodies (aCL IgG/IgM)
- Anti-β2 Glycoprotein I Antibodies
These three tests form the cornerstone of diagnosing Antiphospholipid Syndrome (APS).
Which Tests Are Less Useful Today?
- MTHFR mutation testing
- Homocysteine levels (in most patients)
- PAI-1 4G/5G polymorphism
- Various low-impact genetic polymorphisms
In most cases, these tests do not alter clinical management.
When Should Testing Be Performed?
- During an acute thrombotic event
- While receiving warfarin, heparin, or DOAC therapy
These situations may lead to inaccurate results.
Ideally, testing should be performed several weeks after the acute event and, when feasible, after anticoagulation has been discontinued.
Clinical Pearl
For most patients, a focused thrombophilia workup including:
- Factor V Leiden
- Prothrombin G20210A
- Antithrombin
- Protein C
- Protein S
- APS Panel
Provides far more clinically meaningful information than broad, expensive thrombophilia panels.”
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