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20 April 2004

Factor II and factor V (Leiden) heterozygosity in a case of deep vein thrombosis and pulmonary embolism

Unusual clinical course, Unusual or unexpected effect of treatment, Rare disease

Evaggelia Tzouvara, Styliani Giotopoulou, Eleni Dokou, Nick Kolaitis, George Vartholomatos

Case Rep Clin Pract Rev 2004; 5(null):26-28 :: ID: 12260

Abstract

Background: Venous thromboembolism is a multifactorial disease that depends on a variety of acquired and genetic risk factors. Pulmonary embolism is usually considered to be a complication of deep
vein thrombosis. Therefore the genetic risk factors for both entities are believed to be the same.Case Report: We present the case of a 40-year-old man from northwestern Greece ,initially admitted to Hospital because of lobar pneumonia.Seven days later,he developed deep vein thrombosis soon followed by pulmonary embolism. He was heterozygous for the G1691A mutation in the Factor V gene, for the G20210A mutation in the prothrombin gene and exhibited decreased activity of the protein S.Conclusions: The genetic predisposition and the severity of his clinical course were seriously considered in order to decide that the oral anticoagulation treatment should be continued indefinitely.

Keywords: factor V Leiden, prothrombin mutation, thromboembolism, Pulmonary Embolism

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923