title: Congenital von Willebrand disease type 3: clinical manifestations, pathophysiology and molecular biology.
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.
authors.affiliation: Department of Haematology, Haemostasis, Thrombosis Research Centre, Leiden University Medical Centre, P.O. Box 9600, 2300 RC Leiden, The Netherlands.
authors.forename: J C
authors.initials: JC
authors.lastname: Eikenboom
mesh_terms: D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000145:classification / Q000235:genetics / Q000503:physiopathology; D008967:Molecular Biology / Q000379:methods; D009154:Mutation; D014842:von Willebrand Diseases / Q000145:classification / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D014841:von Willebrand Factor / Q000032:analysis / Q000235:genetics
chemical_list: D014841:von Willebrand Factor