Subtypes of von Willebrand Disease Based on vWF Multimer Analysis in Korea.
- Author:
Shin Heh KANG
1
;
Eun Joo KIM
Author Information
1. Department of Pediatrics, Pochun Cha Medical University, Bundang Cha Hospital, Seoul, Korea. shkang@cha.ac.kr
- Publication Type:Original Article
- Keywords:
von Willebrand disease;
von Willebrand factor;
vWF multimer
- MeSH:
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
- From:Korean Journal of Pediatric Hematology-Oncology
2000;7(1):42-49
- CountryRepublic of Korea
- Language:Korean
-
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.
