Bloody Minded Episode 69 - I Have No Brain And I Must Test | Thrombophilia Testing
Nov 18, 2025
Ever wondered about thrombophilia testing? Dive into an exploration of its importance, including a passionate rant about inappropriate testing practices. Discover the distinctions between inherited and acquired thrombophilias, and why MTHFR testing should be avoided. The hosts discuss key inherited conditions like Factor V Leiden and the prothrombin gene mutation, along with the clinical ramifications of test results. Hear expert insights on when to test and how these results affect patient care—it's a riveting blend of science, history, and humor!
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Thrombophilia Is A Broad Concept
- A thrombophilia is any state that increases predisposition to thrombosis rather than strictly genetic conditions.
- Divide causes into inherited (e.g., protein C/S, antithrombin, FVL, prothrombin) and acquired (e.g., APS, PNH, JAK2).
Not All Inherited Risks Are Equal
- Inherited thrombophilias carry different magnitudes of risk for first thrombosis.
- Strong thrombophilias (protein C/S, antithrombin) have much higher relative risks than heterozygous FVL or prothrombin mutation.
First Versus Recurrent Risk Differs
- Relative risk of first thrombosis can be high but recurrence risk may be much lower.
- Recurrence comparisons use people who've already had clots, so thrombophilia effect appears smaller.