A case of type 2N von Willebrand disease with homozygous R816W mutation of the VWF gene in a Nepalese woman

The Korean journal of laboratory medicine
Sook Young LeeKi Sook Hong

Abstract

Type 2N von Willebrand disease (vWD) can be confused with hemophilia A due to decreased factor VIII levels and a bleeding tendency, and differential diagnosis is of importance for providing the optimal treatment and genetic counseling. For the accurate diagnosis of type 2N vWD, von Willebrand Factor (vWF) function tests, multimer assay and gene mutation analysis are needed. The patient was a 38-yr-old Nepalese woman with a history of bleeding manifestations from childhood, such as hemarthrosis, intramuscular hematoma, and menorrhagia. Family history revealed that her mother and elder brothers also had bleeding manifestations from childhood. When she had a laparotomy in 1991, she was diagnosed as hemophilia A with factor VIII level of 3.6% and was transfused with whole blood, factor VIII and cryoprecipitates. In June 2007, she was admitted to our hospital for further evaluation of bleeding tendency. Blood tests revealed normal CBC; bleeding time, 2 min; PT, 14.9 sec (11-14 sec); aPTT, 51.2 sec (24-38 sec); and factor VIII, 4.9% (50-150%). The prolonged aPTT was corrected by 1:1 mixing test to the levels of 106% and 84%, respectively, before and after 2 hr-incubation at 37degrees C. No abnormalities were found in the vWF antigen ...Continue Reading

References

Nov 1, 2001·Best Practice & Research. Clinical Haematology·C MazurierD Meyer
May 25, 2002·British Journal of Haematology·Claudine CaronJenny Goudemand
Sep 11, 2004·Haemophilia : the Official Journal of the World Federation of Hemophilia·D Simon, I Roisenberg
Jun 11, 2005·Journal of Thrombosis and Haemostasis : JTH·P K GuptaR Saxena
Jul 15, 2005·Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis·Meenal GuptaRenu Saxena
Sep 27, 2006·Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis·Jan Jacques MichielsHuub van Vliet
Dec 21, 2007·The Korean journal of laboratory medicine·Jaewoo SongKyung Soon Song

❮ Previous
Next ❯

Related Concepts

Related Feeds

Blood Clotting Disorders

Thrombophilia includes conditions with increased tendency for excessive blood clotting. Blood clotting occurs when the body has insufficient amounts of specialized proteins that make blood clot and stop bleeding. Here is the latest research on blood clotting disorders.