Thrombophilia historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Asiri Ediriwickrema, M.D., M.H.S. [2]
Overview
Rudolf Virchow described hypercoagulability in the mid 1800s, however, it was not until 1965 that the first descriptions of inherited thrombophilia were published. Later, in the 1990s, the more common mutations associated with primary hypercoagulable states were identified.
Historical Perspective
- Rudolf Virchow, a German physician (1821-1902), began describing the pathophysiology of hemostasis at age 24[1].
- In 1965, the first descriptions of inherited thrombophilias were antithrombin deficiency and dysfibrinogenemia[2][3].
- In 1981-1984, Griffin et al and Comp et al described protein C deficiency and protein S deficiency respectively as a primary hypercoagulable state[4][5].
- In 1993-1994, Bertina and colleagues identified that activated protein C (APC) resistance was primarily due to a mutation in the factor V gene (guanine to adenine substitution at nucleotide 1691, G1691A) resulting in the Factor V Leiden molecule[6].
- In 1996, Poort et al described a prothrombin gene mutation, specificaly the substitution of adenine to guanine at nucleotide 20210 (Prothrombin G20210A), and its association with inherited thrombophilia[7].
References
- ↑ Schafer AI (1994). "Hypercoagulable states: molecular genetics to clinical practice". Lancet. 344 (8939–8940): 1739–42. PMID 7997003.
- ↑ EGEBERG O (1965). "INHERITED ANTITHROMBIN DEFICIENCY CAUSING THROMBOPHILIA". Thromb Diath Haemorrh. 13: 516–30. PMID 14347873.
- ↑ Beck EA, Charache P, Jackson DP (1965). "A new inherited coagulation disorder caused by an abnormal fibrinogen ('fibrinogen Baltimore')". Nature. 208 (5006): 143–5. PMID 4956920.
- ↑ Griffin JH, Evatt B, Zimmerman TS, Kleiss AJ, Wideman C (1981). "Deficiency of protein C in congenital thrombotic disease". J Clin Invest. 68 (5): 1370–3. PMC 370934. PMID 6895379.
- ↑ Comp PC, Esmon CT (1984). "Recurrent venous thromboembolism in patients with a partial deficiency of protein S." N Engl J Med. 311 (24): 1525–8. doi:10.1056/NEJM198412133112401. PMID 6239102.
- ↑ Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H; et al. (1994). "Mutation in blood coagulation factor V associated with resistance to activated protein C." Nature. 369 (6475): 64–7. doi:10.1038/369064a0. PMID 8164741.
- ↑ Poort SR, Rosendaal FR, Reitsma PH, Bertina RM (1996). "A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis". Blood. 88 (10): 3698–703. PMID 8916933.