The role of thrombophilia testing in 2025: An update for medical practice and points for consideration
Andrès, Emmanuel
The role of thrombophilia testing in 2025: An update for medical practice and points for consideration - 2025.
17
Thrombophilia testing aims to identify abnormalities that promote venous thrombosis, but its use is now limited. It is only recommended in specific cases: recurrent thrombosis, thrombosis at unusual sites, a family history of early-onset events, or suspected antiphospholipid syndrome. Testing includes the detection of genetic mutations (factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase [MTHFR] mutations) and deficiencies in antithrombin, protein C, and protein S, as well as elevated homocysteine levels and acquired abnormalities such as antiphospholipid syndrome (APS). It may also include testing for myeloproliferative syndromes and paroxysmal nocturnal hemoglobinuria. However, its impact on patient management remains limited, as the presence of hereditary thrombophilia does not always alter the duration of anticoagulant treatment. Furthermore, the excessive use of these tests can lead to over-medicalization and significant costs without clear clinical benefit.
The role of thrombophilia testing in 2025: An update for medical practice and points for consideration - 2025.
17
Thrombophilia testing aims to identify abnormalities that promote venous thrombosis, but its use is now limited. It is only recommended in specific cases: recurrent thrombosis, thrombosis at unusual sites, a family history of early-onset events, or suspected antiphospholipid syndrome. Testing includes the detection of genetic mutations (factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase [MTHFR] mutations) and deficiencies in antithrombin, protein C, and protein S, as well as elevated homocysteine levels and acquired abnormalities such as antiphospholipid syndrome (APS). It may also include testing for myeloproliferative syndromes and paroxysmal nocturnal hemoglobinuria. However, its impact on patient management remains limited, as the presence of hereditary thrombophilia does not always alter the duration of anticoagulant treatment. Furthermore, the excessive use of these tests can lead to over-medicalization and significant costs without clear clinical benefit.
Réseaux sociaux