Heterogeneity in type IIB von Willebrand disease: Two unrelated cases with no family history and mild abnormalities of ristocetin-induced interaction between von Willebrand factor and platelets

A. B. Federici, P. M. Mannucci, R. Bader, R. Lombardi, A. Lattuada

Research output: Contribution to journalArticle

Abstract

Two patients from 2 separate families were diagnosed as having type IIB von Willebrand disease, because they had lifelong bleeding tendencies, prolonged bleeding times, no large von Willebrand factor multimers, and low levels of ristocetin cofactor in plasma with heightened ristocetin-induced platelet aggregation. There was no history of bleeding, and no laboratory abnormalities were found in the parents and sibship of either propositi, in contrast with the autosomal dominant pattern of inheritance usually observed in type IIB von Willebrand disease. Abnormalities of ristocetin-induced von Willebrand factor-platelet interactions were less severe than in a patient from a previously reported family with type IIB von Willebrand disease studied in parallel. The peculiar features of these cases provide additional evidence of the existence of heterogeneity within this variant.

Original languageEnglish
Pages (from-to)381-390
Number of pages10
JournalAmerican Journal of Hematology
Volume23
Issue number4
DOIs
Publication statusPublished - 1986

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ASJC Scopus subject areas

  • Hematology

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