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The G1691A Mutation of the Factor V Gene (Factor V Leiden) and the G20210A Mutation of the Prothrombin Gene as Risk Factors in Thrombotic Microangiopathies

Department of Hemostasis and Transfusion Medicine Heinrich Heine University Medical Center, Düsseldorf, Germany, sucker{at}med.uni-duesseldorf.de

Christine Kurschat, MD

Department of Nephrology, Heinrich Heine University Medical Center, Düsseldorf, Germany

Gerd R. Hetzel, MD

Department of Nephrology Heinrich Heine University Medical Center, Düsseldorf, Germany

Bernd Grabensee, MD, PhD

Department of Nephrology Heinrich Heine University Medical Center, Düsseldorf, Germany

Beate Maruhn-Debowski

Department of Nephrology Heinrich Heine University Medical Center, Düsseldorf, Germany

Robert Loncar, MD

Department of Nephrology Heinrich Heine University Medical Center, Düsseldorf, Germany

Ljerka Ostojic, MD, PhD

University Medical Center, Mostar, Bosnia and Herzegovina

Ruediger E. Scharf, MD, PhD

Department of Hemostasis and Transfusion Medicine Heinrich Heine University Medical Center, Düsseldorf, Germany

Rainer B. Zotz, MD

Department of Hemostasis and Transfusion Medicine Heinrich Heine University Medical Center, Düsseldorf, Germany

Factor V Leiden (FVL) mutation and prothrombin G20210A mutation are common hereditary risk factors for venous thrombosis. In the current study, 40 patients (mean age ± standard deviation, 35 ± 11 years) and 764 healthy control subjects (mean age ± standard deviation, 37 ± 14 years) were enrolled to assess the potential role of these mutations in the manifestation of thrombotic microangiopathies. Compared with controls, neither the heterozygous FVL mutation (7.5% vs 8.5%; P = 1) nor the heterozygous prothrombin mutation (2.5% vs 2.8%; P = 1) was more prevalent in the patients. The findings do not support a significant role of FVL and prothrombin mutations as risk factors for the manifestation of thrombotic microangiopathies. Thus, screening for these mutations does not allow the identification of individuals at increased risk for these rare thrombotic disorders.

Key Words: thrombotic microangiopathies • factor V Leiden mutation • prothrombin mutation

Clinical and Applied Thrombosis/Hemostasis, Vol. 15, No. 3, 360-363 (2009)
DOI: 10.1177/1076029607311778


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