Korean J Pediatr Hematol Oncol.  2000 Apr;7(1):42-49.

Subtypes of von Willebrand Disease Based on vWF Multimer Analysis in Korea

• Kang SH
• Kim EJ

Abstract

PURPOSE: von Willebrand disease is a common inherited bleeding disorder characterized by high degree of variable clinical presentation due to either quantitative or qualitative defects in von Willebrand factor. Its incidence in Korea is not well studied while that in western countries is extensively studied.
METHODS
We classified 16 cases of vWD from 14 unrelated families based on vWF antigen, ristocetin cofactor activity, factor VIII activity and vWF multimeric patterns analysed by agarose gel electrophoresis, according to a revised classification by ISTH.
RESULTS
There were 12 cases (75%) of type 1 vWD or 2M/2N with normal multimeric pattern, 3 cases (18.75%) of type 2 vWD lacking high molecular weight multimers and only 1 case of type 3 vWD with no multimers.
CONCLUSION
The proportion of each vWD subtype in Korea is similar to that in western countries, however, accurate diagnosis based on ristocetin induced platelet aggregation test, factor VIII binding assay and molecular genetic diagnosis seems to be necessary for a more complete classification of vWD.

Keyword

von Willebrand disease; von Willebrand factor; vWF multimer

MeSH Terms

Classification
Diagnosis
Electrophoresis, Agar Gel
Factor VIII
Hemorrhage
Humans
Incidence
Korea*
Molecular Biology
Molecular Weight
Platelet Aggregation
Ristocetin
von Willebrand Disease, Type 3
von Willebrand Diseases*
von Willebrand Factor
Factor VIII
Ristocetin
von Willebrand Factor