Thrombophilia historical perspective: Difference between revisions
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{{Thrombophilia}} | {{Thrombophilia}} | ||
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==Overview== | ==Overview== | ||
Rudolf Virchow began describing '''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== | ==Historical Perspective== | ||
*[[Virchow's_triad|Rudolf Virchow]], a German physician (1821-1902), began describing the pathophysiology of hemostasis at age 24<ref name="pmid7997003">{{cite journal| author=Schafer AI| title=Hypercoagulable states: molecular genetics to clinical practice. | journal=Lancet | year= 1994 | volume= 344 | issue= 8939-8940 | pages= 1739-42 | pmid=7997003 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7997003 }} </ref> | |||
*In 1965, the first descriptions of inherited thrombophilias were '''antithrombin deficiency''' and '''dysfibrinogenemia'''<ref name="pmid14347873">{{cite journal| author=EGEBERG O| title=INHERITED ANTITHROMBIN DEFICIENCY CAUSING THROMBOPHILIA. | journal=Thromb Diath Haemorrh | year= 1965 | volume= 13 | issue= | pages= 516-30 | pmid=14347873 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14347873 }} </ref><ref name="pmid4956920">{{cite journal| author=Beck EA, Charache P, Jackson DP| title=A new inherited coagulation disorder caused by an abnormal fibrinogen ('fibrinogen Baltimore'). | journal=Nature | year= 1965 | volume= 208 | issue= 5006 | pages= 143-5 | pmid=4956920 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4956920 }} </ref> | |||
*In 1981-1984, Seligsohn and Lubetsky described '''protein C deficiency''' and '''protein S deficiency''' as a primary hypercoagulable state<ref name="pmid11309638">{{cite journal| author=Seligsohn U, Lubetsky A| title=Genetic susceptibility to venous thrombosis. | journal=N Engl J Med | year= 2001 | volume= 344 | issue= 16 | pages= 1222-31 | pmid=11309638 | doi=10.1056/NEJM200104193441607 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11309638 }} </ref> | |||
*In 1993-1994, Seligsohn and Lubetsky identified that '''activated protein C (APC) resistance''' was primarily due to a mutation in the factor V gene (guanine substituted for adenine at nucleotide 1691, G1691A) resulting in the [[Factor V Leiden]] molecule<ref name="pmid11309638">{{cite journal| author=Seligsohn U, Lubetsky A| title=Genetic susceptibility to venous thrombosis. | journal=N Engl J Med | year= 2001 | volume= 344 | issue= 16 | pages= 1222-31 | pmid=11309638 | doi=10.1056/NEJM200104193441607 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11309638 }} </ref> | |||
*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<ref name="pmid8916933">{{cite journal| author=Poort SR, Rosendaal FR, Reitsma PH, Bertina RM| title=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. | journal=Blood | year= 1996 | volume= 88 | issue= 10 | pages= 3698-703 | pmid=8916933 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8916933 }} </ref> | |||
==References== | ==References== | ||
Revision as of 06:24, 23 June 2016
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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 began describing 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, Seligsohn and Lubetsky described protein C deficiency and protein S deficiency as a primary hypercoagulable state[4]
- In 1993-1994, Seligsohn and Lubetsky identified that activated protein C (APC) resistance was primarily due to a mutation in the factor V gene (guanine substituted for adenine at nucleotide 1691, G1691A) resulting in the Factor V Leiden molecule[4]
- 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[5]
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.
- ↑ 4.0 4.1 Seligsohn U, Lubetsky A (2001). "Genetic susceptibility to venous thrombosis". N Engl J Med. 344 (16): 1222–31. doi:10.1056/NEJM200104193441607. PMID 11309638.
- ↑ 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.