Thrombophilia historical perspective: Difference between revisions
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==Overview== | ==Overview== | ||
Rudolf Virchow described hypercoagulability in the mid 1800s<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> | Rudolf Virchow described hypercoagulability in the mid 1800s, however, it was not until 1965 that the first descriptions of inherited thrombophilia were published.<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><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> Later, in the 1990s, the more common mutations associated with primary hypercoagulable states were identified.<ref name="pmid8164741">{{cite journal| author=Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H et al.| title=Mutation in blood coagulation factor V associated with resistance to activated protein C. | journal=Nature | year= 1994 | volume= 369 | issue= 6475 | pages= 64-7 | pmid=8164741 | doi=10.1038/369064a0 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8164741 }} </ref><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> | ||
==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> | *[[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 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, Griffin et al and Comp et al described '''protein C deficiency''' and '''protein S deficiency''' respectively as a primary hypercoagulable state<ref name="pmid6895379">{{cite journal| author=Griffin JH, Evatt B, Zimmerman TS, Kleiss AJ, Wideman C| title=Deficiency of protein C in congenital thrombotic disease. | journal=J Clin Invest | year= 1981 | volume= 68 | issue= 5 | pages= 1370-3 | pmid=6895379 | doi= | pmc=370934 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6895379 }} </ref><ref name="pmid6239102">{{cite journal| author=Comp PC, Esmon CT| title=Recurrent venous thromboembolism in patients with a partial deficiency of protein S. | journal=N Engl J Med | year= 1984 | volume= 311 | issue= 24 | pages= 1525-8 | pmid=6239102 | doi=10.1056/NEJM198412133112401 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6239102 }} </ref> | *In 1981-1984, Griffin et al and Comp et al described '''protein C deficiency''' and '''protein S deficiency''' respectively as a primary hypercoagulable state.<ref name="pmid6895379">{{cite journal| author=Griffin JH, Evatt B, Zimmerman TS, Kleiss AJ, Wideman C| title=Deficiency of protein C in congenital thrombotic disease. | journal=J Clin Invest | year= 1981 | volume= 68 | issue= 5 | pages= 1370-3 | pmid=6895379 | doi= | pmc=370934 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6895379 }} </ref><ref name="pmid6239102">{{cite journal| author=Comp PC, Esmon CT| title=Recurrent venous thromboembolism in patients with a partial deficiency of protein S. | journal=N Engl J Med | year= 1984 | volume= 311 | issue= 24 | pages= 1525-8 | pmid=6239102 | doi=10.1056/NEJM198412133112401 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6239102 }} </ref> | ||
*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<ref name="pmid8164741">{{cite journal| author=Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H et al.| title=Mutation in blood coagulation factor V associated with resistance to activated protein C. | journal=Nature | year= 1994 | volume= 369 | issue= 6475 | pages= 64-7 | pmid=8164741 | doi=10.1038/369064a0 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8164741 }} </ref> | *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.<ref name="pmid8164741">{{cite journal| author=Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H et al.| title=Mutation in blood coagulation factor V associated with resistance to activated protein C. | journal=Nature | year= 1994 | volume= 369 | issue= 6475 | pages= 64-7 | pmid=8164741 | doi=10.1038/369064a0 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8164741 }} </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> | *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 21:19, 15 July 2016
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: 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.[1][2][3] Later, in the 1990s, the more common mutations associated with primary hypercoagulable states were identified.[4][5]
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.[6][7]
- 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.[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
- ↑ 1.0 1.1 Schafer AI (1994). "Hypercoagulable states: molecular genetics to clinical practice". Lancet. 344 (8939–8940): 1739–42. PMID 7997003.
- ↑ 2.0 2.1 EGEBERG O (1965). "INHERITED ANTITHROMBIN DEFICIENCY CAUSING THROMBOPHILIA". Thromb Diath Haemorrh. 13: 516–30. PMID 14347873.
- ↑ 3.0 3.1 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 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.
- ↑ 5.0 5.1 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.
- ↑ 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.