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.
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Authors | J C Eikenboom |
Journal | Best practice & research. Clinical haematology
(Best Pract Res Clin Haematol)
Vol. 14
Issue 2
Pg. 365-79
(Jun 2001)
ISSN: 1521-6926 [Print] Netherlands |
PMID | 11686105
(Publication Type: Journal Article, Review)
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Chemical References |
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Topics |
- Humans
- Infant, Newborn
- Infant, Newborn, Diseases
(classification, genetics, physiopathology)
- Molecular Biology
(methods)
- Mutation
- von Willebrand Diseases
(classification, genetics, physiopathology, therapy)
- von Willebrand Factor
(analysis, genetics)
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