✅ Overview of Factor deficiencies
⭐ Review of mechanisms of action
🧮 Brief introduction to FDA-approved therapies
📈 And more!
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💡 Deep Dive: Overview of Factor Deficiencies |
In-depth review of Factor deficiencies and FDA-approved therapies |
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In this week’s Deep Dive, we’ll review Factor deficiencies and their FDA-approved therapies. While these syndromes are rare, they are essential for the practicing hematologist to diagnose and treat, given their acute propensity towards clinically significant and life-threatening bleeding. Moreover, given the clinical success with Factor-specific treatments, life expectancy for these conditions has been extended from 3-4 decades to nearly normal (see Reference 1).
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Image credit: covered by Creative Commons license 3.0 |
These Factor deficiencies are usually diagnosed due to positive family history, excessive bleeding in childhood, or abnormal coagulation parameters (e.g., bleeding time or aPTT levels). Specific Factor levels are confirmed through either a one-stage assay or two-stage chromogenic assay which, in turn, identify the deficient Factor(measured as % activity). Inhibitors present alongside said Factor must be detected with a different assay (measured in Bethesda Units [B.U.]).
For a review of other hemostatic disorders (e.g. von Willebrand Disease, DIC, and some thrombocytopenias), head over to Pathway. We’ll cover the critical Factor deficiencies below:
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This table lists the “rare” Factor deficiencies, including Factors 11, 5, 7, 10, 13, and 2, as well as their corresponding modes of inheritance, prevalences, unique features, known mutations, and possible treatments.
⭐ References:
1: Guidelines for the Management of Hemophilia
2: Haemophilia
3: Rare Coagulation Factor Deficiencies (Factors VII, X, V, and II)
4: Treatment of rare factor deficiencies other than hemophilia
5: Occurrence rates of haemophilia among males in the United States based on surveillance conducted by specialized haemophilia treatment centers
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