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Pathogenesis & Laboratory approach to Thrombophilia

Year 2009, Volume: 14 Issue: 2, 29 - 35, 14.01.2013
https://izlik.org/JA69MA28WB

Abstract

Abstract. Thrombophilia is a term used for any hypercoagulable state, either inherited or acquired. The former is considered after excluding acquired predisposing causes like trauma, immobility, Dirseminated inta vascular cuagulation, pregnancy and anitphospholipid syndrome etc.  It frequently results from interplay of genetic and acquired factors. An individual’s risk for DVT would be determined by the combination of his or her baseline propensity for thrombosis and the magnitude of the acute insult. Inherited hypercoagulable states may be secondary to deficiency of natural clotting inhibitors or elevated procoagulants or increased fibrinolytic factors . Amongst these, activated protein C resistance, is the commonest underlying cause .Testing for thrombophilia is best performed in stages. Highest-yield assays (screening tests) should be performed first and, if positive, should be followed by appropriate confirmatory tests. Cornerstone of initial treatment is heparin, either unfractionated or low molecular weight, followed by oral anticoagulation.

Key words:  Thrombophillia, ınherited

References

  • Dati F, Hafner G, Erbes H, Prellwitz W, Kraus M, Niemann F, Naoh M, Wagner C. Pro CR Global : the first functional screening assay for the complete protein C pathway. Clin Chem 1997; 43: 1719-23.
  • Kenneth A. Bauer, Hypercoagulable states; Homatology Basic Principles and Practice, 3rd edition 2001: 2009-2039.
  • Martinelli I, Mannucci PM, De Stefano V, et al. Different sisks of thrombosis in four coagulation defects associated with inherited thrombophilia: a study of 150 families. Blood 1998; 92: 2353-2358.
  • Sie P, Boneu B. Bierme R, et al. Arterial thrombosis and protein S deficiency of protein S. Blood 1995; 85: 3518-3523.
  • Rosendaal FR, Koster T, Vandenbroucke JP et al. Reitsma PH. Hith risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 1995; 85:1504-1508.
  • Gerhardt A, Scharf RE, Beckmann MW, et al. Prothrombin and factor V mutations in women with history of thrombosis during pregnancy and puerperium. N Engl J Med 2000; 342: 374-380.
  • Rosendaal FR, Siscovick DS, Schwartz SM, et al. Factor V Leiden (resistance to activated protein C) increases the risk of myocardial infarction in young women. Blood 1997; 89: 2817-2821.
  • Kandice Kottke- Merchant, Alexander Duncan. Antithrombin deficiency: Issues in Laboratory Diagnosis. Arch Pathol Lab Med 2002; 126: 13261- 336.

Year 2009, Volume: 14 Issue: 2, 29 - 35, 14.01.2013
https://izlik.org/JA69MA28WB

Abstract

References

  • Dati F, Hafner G, Erbes H, Prellwitz W, Kraus M, Niemann F, Naoh M, Wagner C. Pro CR Global : the first functional screening assay for the complete protein C pathway. Clin Chem 1997; 43: 1719-23.
  • Kenneth A. Bauer, Hypercoagulable states; Homatology Basic Principles and Practice, 3rd edition 2001: 2009-2039.
  • Martinelli I, Mannucci PM, De Stefano V, et al. Different sisks of thrombosis in four coagulation defects associated with inherited thrombophilia: a study of 150 families. Blood 1998; 92: 2353-2358.
  • Sie P, Boneu B. Bierme R, et al. Arterial thrombosis and protein S deficiency of protein S. Blood 1995; 85: 3518-3523.
  • Rosendaal FR, Koster T, Vandenbroucke JP et al. Reitsma PH. Hith risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 1995; 85:1504-1508.
  • Gerhardt A, Scharf RE, Beckmann MW, et al. Prothrombin and factor V mutations in women with history of thrombosis during pregnancy and puerperium. N Engl J Med 2000; 342: 374-380.
  • Rosendaal FR, Siscovick DS, Schwartz SM, et al. Factor V Leiden (resistance to activated protein C) increases the risk of myocardial infarction in young women. Blood 1997; 89: 2817-2821.
  • Kandice Kottke- Merchant, Alexander Duncan. Antithrombin deficiency: Issues in Laboratory Diagnosis. Arch Pathol Lab Med 2002; 126: 13261- 336.
There are 8 citations in total.

Details

Primary Language English
Authors

Renu Saxena This is me

Monica Sharma This is me

Publication Date January 14, 2013
IZ https://izlik.org/JA69MA28WB
Published in Issue Year 2009 Volume: 14 Issue: 2

Cite

APA Saxena, R., & Sharma, M. (2013). Pathogenesis & Laboratory approach to Thrombophilia. EASTERN JOURNAL OF MEDICINE, 14(2), 29-35. https://izlik.org/JA69MA28WB
AMA 1.Saxena R, Sharma M. Pathogenesis & Laboratory approach to Thrombophilia. EASTERN JOURNAL OF MEDICINE. 2013;14(2):29-35. https://izlik.org/JA69MA28WB
Chicago Saxena, Renu, and Monica Sharma. 2013. “Pathogenesis & Laboratory Approach to Thrombophilia”. EASTERN JOURNAL OF MEDICINE 14 (2): 29-35. https://izlik.org/JA69MA28WB.
EndNote Saxena R, Sharma M (March 1, 2013) Pathogenesis & Laboratory approach to Thrombophilia. EASTERN JOURNAL OF MEDICINE 14 2 29–35.
IEEE [1]R. Saxena and M. Sharma, “Pathogenesis & Laboratory approach to Thrombophilia”, EASTERN JOURNAL OF MEDICINE, vol. 14, no. 2, pp. 29–35, Mar. 2013, [Online]. Available: https://izlik.org/JA69MA28WB
ISNAD Saxena, Renu - Sharma, Monica. “Pathogenesis & Laboratory Approach to Thrombophilia”. EASTERN JOURNAL OF MEDICINE 14/2 (March 1, 2013): 29-35. https://izlik.org/JA69MA28WB.
JAMA 1.Saxena R, Sharma M. Pathogenesis & Laboratory approach to Thrombophilia. EASTERN JOURNAL OF MEDICINE. 2013;14:29–35.
MLA Saxena, Renu, and Monica Sharma. “Pathogenesis & Laboratory Approach to Thrombophilia”. EASTERN JOURNAL OF MEDICINE, vol. 14, no. 2, Mar. 2013, pp. 29-35, https://izlik.org/JA69MA28WB.
Vancouver 1.Renu Saxena, Monica Sharma. Pathogenesis & Laboratory approach to Thrombophilia. EASTERN JOURNAL OF MEDICINE [Internet]. 2013 Mar. 1;14(2):29-35. Available from: https://izlik.org/JA69MA28WB