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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.  
Hypercoagulability was first discovered by Dr. Rudolf Virchow, a German physician, in the mid-1800s. In 1965, the first descriptions of inherited thrombophilia were published by Dr. Roger O. Egeberg, an American physician.<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>
 
*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>
*'''1821-1902:''' A German physician, Rudolf Virchow, 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 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>
*'''1856:''' Rudolf Virchow proposed a hypothesis to explain the etiology of pulmonary emboli, which lead to the understanding of the three primary causes of venous and arterial thrombosis: stasis, injury to the vessel wall and abnormalities in the circulating blood. <ref name="BagotArya2008">{{cite journal|last1=Bagot|first1=Catherine N.|last2=Arya|first2=Roopen|title=Virchow and his triad: a question of attribution|journal=British Journal of Haematology|volume=143|issue=2|year=2008|pages=180–190|issn=00071048|doi=10.1111/j.1365-2141.2008.07323.x}}</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>
*'''1906:''' Wasserman et al. described the antiphospholipid syndrome. <ref>Wasserman A, Neisser A, Bruck C. Eine serodiagnostiche Reaction bei Syphilis. Deutsch Med Wöchenschr 1906;32:747</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>  
*'''1965:''' The first descriptions of inherited thrombophilias were Antithrombin deficiency by Egeberg et al. and dysfibrinogenemia by Beck et al.<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>  
*'''1981-1984:''' Dr. John Griffin and Dr. Philip Comp 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>  
*'''1993-1994:''' Dr. Rogier Bertina and his 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>
*'''1996:''' Swibertus R Poort 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==
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[[Category:Hematology]]
[[Category:Hematology]]
[[Category:FinalQCRequired]]


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Latest revision as of 18:35, 6 April 2021

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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] Jaspinder Kaur, MBBS[3]

Overview

Hypercoagulability was first discovered by Dr. Rudolf Virchow, a German physician, in the mid-1800s. In 1965, the first descriptions of inherited thrombophilia were published by Dr. Roger O. Egeberg, an American physician.[1][2][3] Later, in the 1990s, the more common mutations associated with primary hypercoagulable states were identified.[4][5]

Historical Perspective

  • 1821-1902: A German physician, Rudolf Virchow, began describing the pathophysiology of hemostasis at age 24.[1]
  • 1856: Rudolf Virchow proposed a hypothesis to explain the etiology of pulmonary emboli, which lead to the understanding of the three primary causes of venous and arterial thrombosis: stasis, injury to the vessel wall and abnormalities in the circulating blood. [6]
  • 1906: Wasserman et al. described the antiphospholipid syndrome. [7]
  • 1965: The first descriptions of inherited thrombophilias were Antithrombin deficiency by Egeberg et al. and dysfibrinogenemia by Beck et al.[2][3]
  • 1981-1984: Dr. John Griffin and Dr. Philip Comp described protein C deficiency and protein S deficiency respectively as a primary hypercoagulable state.[8][9]
  • 1993-1994: Dr. Rogier Bertina and his 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]
  • 1996: Swibertus R Poort 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. 1.0 1.1 Schafer AI (1994). "Hypercoagulable states: molecular genetics to clinical practice". Lancet. 344 (8939–8940): 1739–42. PMID 7997003.
  2. 2.0 2.1 EGEBERG O (1965). "INHERITED ANTITHROMBIN DEFICIENCY CAUSING THROMBOPHILIA". Thromb Diath Haemorrh. 13: 516–30. PMID 14347873.
  3. 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. 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. 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.
  6. Bagot, Catherine N.; Arya, Roopen (2008). "Virchow and his triad: a question of attribution". British Journal of Haematology. 143 (2): 180–190. doi:10.1111/j.1365-2141.2008.07323.x. ISSN 0007-1048.
  7. Wasserman A, Neisser A, Bruck C. Eine serodiagnostiche Reaction bei Syphilis. Deutsch Med Wöchenschr 1906;32:747
  8. 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.
  9. 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.

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