Congenital von Willebrand disease type 3: clinical manifestations, pathophysiology and molecular biology

Best Pract Res Clin Haematol. 2001 Jun;14(2):365-79. doi: 10.1053/beha.2001.0139.

Abstract

von Willebrand disease type 3 is the most severe form of this condition. Patients present with a moderate-to-severe bleeding tendency. The plasma von Willebrand factor level in these patients is very low or undetectable. Although rare, von Willebrand disease type 3 is of major interest because of its severe clinical presentation, the need for replacement therapy and the risk of occurrence of alloantibodies after the infusion of plasma concentrates. The inheritance of type 3 disease is typically autosomal recessive. The parents are often consanguineous, although compound heterozygous inheritance does occur. The molecular basis of von Willebrand disease type 3 has recently been studied in detail, several molecular defects being identified. This chapter will focus on the clinical and molecular aspects of type 3 von Willebrand disease.

Publication types

  • Review

MeSH terms

  • Humans
  • Infant, Newborn
  • Infant, Newborn, Diseases / classification
  • Infant, Newborn, Diseases / genetics
  • Infant, Newborn, Diseases / physiopathology
  • Molecular Biology / methods
  • Mutation
  • von Willebrand Diseases / classification
  • von Willebrand Diseases / genetics*
  • von Willebrand Diseases / physiopathology
  • von Willebrand Diseases / therapy
  • von Willebrand Factor / analysis
  • von Willebrand Factor / genetics

Substances

  • von Willebrand Factor