Abstract
Type 3 von Willebrand disease (VWD) is the most severe form of this bleeding disorder owing to a virtually complete deficiency of von Willebrand factor (VWF). Type 3 VWD is inherited as a recessive trait-heterozygous relatives have mild or no bleeding symptoms, while most patients with type 3 VWD show severe bleeding because they are characterized by undetectable levels of VWF antigen and reduced concentrations (<0.10 IU/dL) of factor VIII. Although rare, type 3 VWD 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-derived VWF concentrates. The molecular basis of type 3 VWD has been studied in detail and numerous molecular defects have been identified. This chapter will focus on the clinical, laboratory, and molecular aspects of type 3 VWD that can be useful for a correct therapeutic approach in these patients.
| Original language | English |
|---|---|
| Title of host publication | Von Willebrand Disease: Basic and Clinical Aspects |
| Publisher | Wiley-Blackwell |
| Pages | 148-165 |
| Number of pages | 18 |
| ISBN (Print) | 9781405195126 |
| DOIs | |
| Publication status | Published - Mar 21 2011 |
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Keywords
- Alloantibodies
- Bleeding symptoms
- Laboratory tests
- Molecular and prenatal diagnosis
- Secondary long-term prophylaxis
- Surgery
- Type 3 von Willebrand disease
- Von Willebrand factor
- Von Willebrand factor concentrates
ASJC Scopus subject areas
- Medicine(all)
Cite this
Clinical, Laboratory, and Molecular Markers of Type 3 von Willebrand Disease. / Baronciani, Luciano; Federici, Augusto B.; Eikenboom, Jeroen C J.
Von Willebrand Disease: Basic and Clinical Aspects. Wiley-Blackwell, 2011. p. 148-165.Research output: Chapter in Book/Report/Conference proceeding › Chapter
}
TY - CHAP
T1 - Clinical, Laboratory, and Molecular Markers of Type 3 von Willebrand Disease
AU - Baronciani, Luciano
AU - Federici, Augusto B.
AU - Eikenboom, Jeroen C J
PY - 2011/3/21
Y1 - 2011/3/21
N2 - Type 3 von Willebrand disease (VWD) is the most severe form of this bleeding disorder owing to a virtually complete deficiency of von Willebrand factor (VWF). Type 3 VWD is inherited as a recessive trait-heterozygous relatives have mild or no bleeding symptoms, while most patients with type 3 VWD show severe bleeding because they are characterized by undetectable levels of VWF antigen and reduced concentrations (<0.10 IU/dL) of factor VIII. Although rare, type 3 VWD 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-derived VWF concentrates. The molecular basis of type 3 VWD has been studied in detail and numerous molecular defects have been identified. This chapter will focus on the clinical, laboratory, and molecular aspects of type 3 VWD that can be useful for a correct therapeutic approach in these patients.
AB - Type 3 von Willebrand disease (VWD) is the most severe form of this bleeding disorder owing to a virtually complete deficiency of von Willebrand factor (VWF). Type 3 VWD is inherited as a recessive trait-heterozygous relatives have mild or no bleeding symptoms, while most patients with type 3 VWD show severe bleeding because they are characterized by undetectable levels of VWF antigen and reduced concentrations (<0.10 IU/dL) of factor VIII. Although rare, type 3 VWD 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-derived VWF concentrates. The molecular basis of type 3 VWD has been studied in detail and numerous molecular defects have been identified. This chapter will focus on the clinical, laboratory, and molecular aspects of type 3 VWD that can be useful for a correct therapeutic approach in these patients.
KW - Alloantibodies
KW - Bleeding symptoms
KW - Laboratory tests
KW - Molecular and prenatal diagnosis
KW - Secondary long-term prophylaxis
KW - Surgery
KW - Type 3 von Willebrand disease
KW - Von Willebrand factor
KW - Von Willebrand factor concentrates
UR - http://www.scopus.com/inward/record.url?scp=84865325226&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84865325226&partnerID=8YFLogxK
U2 - 10.1002/9781444329926.ch13
DO - 10.1002/9781444329926.ch13
M3 - Chapter
SN - 9781405195126
SP - 148
EP - 165
BT - Von Willebrand Disease: Basic and Clinical Aspects
PB - Wiley-Blackwell
ER -