Variant von Willebrand’s Disease

David Green; K J Philip

doi:10.1055/s-0038-1649998

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 1980; 43(01): 002-005
DOI: 10.1055/s-0038-1649998

Original Article

Schattauer GmbH Stuttgart

Variant von Willebrand’s Disease

A Study Emphasizing Crossed-Immunoelectrophoresis

Authors

David Green

The Atherosclerosis Program, Rehabilitation Institute of Chicago, and the Hematology Section, Department of Medicine, Northwestern University Medical School, U.S.A.
K J Philip

The Atherosclerosis Program, Rehabilitation Institute of Chicago, and the Hematology Section, Department of Medicine, Northwestern University Medical School, U.S.A.

Abstract

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Summary

30 members of an Illinois kindred were studied with a battery of haemostatic tests including the template bleeding time, platelet retention by glass beads (PRGB), measurement of activities related to factor VIII, and crossed-immunoelectrophoresis (CIEP). 9 family members had a history of excessive bleeding, and all 9 had prolonged bleeding times and increased migration of their factor VIII-related antigen (VIIIR:Ag) on CIEP. Of the other tests performed, the VIII: Ristocetin Cofactor and the PRGB showed the best correlation with the bleeding time. 3 subjects who were not bleeders, but who came from a branch of the family where there were several affected members, also had an abnormal VIIIR: Ag. The pattern of inheritance of the altered VIIIR: Ag in this family was one of autosomal dominance with full penetrance. The CIEP is a valuable screening test for the detection of variant von Willebrand’s disease and the recognition of silent heterozygotes.

Keywords

Von Willebrand’s disease - Factor VIII variants - Genetics of vWD

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References

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