Investigation of type IIC von Willebrand disease.
Type II von Willebrand disease (vWD) is characterized by qualitative abnormality of von Willebrand factor (vWF). It is characterized by the absence of the largest, or the largest and intermediate-size plasma vWF multimers. Type IIC vWD is a very rare variant subtype. We report the tenth case of type IIC vWD who is a 32-year-old Japanese with a history of lifelong mild bleeding problems. The multimeric analysis of vWF of the patient's plasma revealed that the multimers were composed of the increased smallest multimer and progressively decreased larger multimers, with each multimer replaced by a single band instead of a normal triplet structure. The family study highly suggested that the propositus is the first case of homozygote for type IIC vWD gene, although previous studies have suggested that type IIC vWD is due to double heterozygosity of two different mutant genes. The patient's von Willebrand factor antigen showed a slight response to 1-deamino-8-D-arginine vasopressin (DDAVP), whereas his ristocetin cofactor showed no response. The patient responded very well to an intermediate-purity factor VIII concentrate, and then underwent cholecystectomy without bleeding problems.
Uno
H
H
Second Department of Internal Medicine, Miyazaki Medical School, Japan.
Nishida
N
N
Ishizaki
J
J
Suzuki
M
M
Nishikubo
T
T
Miyata
S
S
Takahashi
Y
Y
Yoshioka
A
A
Tsuda
K
K
D000328:Adult; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D014842:von Willebrand Diseases / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics
D014841:von Willebrand Factor