[A case of type 2N von Willebrand disease with homozygous R816W mutation of the VWF gene in a Nepalese woman].
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 level (71.3%), ristocetin cofactor assay (130.4%), and multimer assay. Direct DNA sequencing of the VWF gene revealed homozygous missense mutation located in exon 19, c.2446C>T (p.Arg816Trp), confirming the diagnosis of type 2N vWD.
Lee
Sook Young
SY
Department of Laboratory Medicine, School of Medicine, Ewha Womans University, Dongdaemun Hospital, Seoul, Korea.
Nam
Eun Mi
EM
Lee
Soon Nam
SN
Kim
Hee Jin
HJ
Hong
Ki Sook
KS
D000328:Adult; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D005260:Female; D005838:Genotype; D006720:Homozygote; D006801:Humans; D009390:Nepal; D014842:von Willebrand Diseases / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D014841:von Willebrand Factor / Q000032:analysis / Q000235:genetics*
D014841:von Willebrand Factor