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Type 2N von Willebrand disease.
Claudine Mazurier1, Lysiane Hilbert
1Développement Pré-Clinique, Laboratoire français du Fractionnement et des Biotechnologies, 59, rue de Trévise, BP 2006, 59011 Lille cédex, France. cmazurier@lfb.fr
Current Hematology Reports
|September 1, 2005
Summary
Type 2N von Willebrand disease (VWD) involves a factor VIII (FVIII) deficiency due to reduced binding of von Willebrand factor (VWF) to FVIII. Identifying VWF gene mutations aids diagnosis and guides treatment with VWF-containing products.
Area of Science:
- Hematology
- Genetics
- Molecular Biology
Background:
- Type 2N von Willebrand disease (VWD) presents as a factor VIII (FVIII) deficiency.
- This condition arises from significantly reduced affinity of von Willebrand factor (VWF) for FVIII.
- It is inherited autosomally recessively and clinically resembles mild hemophilia.
Purpose of the Study:
- To differentiate Type 2N VWD from other bleeding disorders.
- To establish a basis for genetic counseling and optimal patient treatment.
- To identify specific mutations in the VWF gene responsible for Type 2N VWD.
Main Methods:
- Measurement of plasma VWF's capacity to bind FVIII for differential diagnosis.
- Utilizing molecular biology techniques to identify mutations in the VWF gene.
- Analyzing amino acid residue changes in the N-terminal region of VWF.
Main Results:
- Identified 20 missense mutations in the VWF gene associated with Type 2N VWD.
- These mutations affect amino acid residues within the FVIII binding site in the VWF N-terminus.
- Mutation identification facilitates a precise genetic diagnosis.
Conclusions:
- Type 2N VWD diagnosis relies on assessing VWF's FVIII binding capability.
- Molecular analysis reveals specific VWF gene mutations causing the disorder.
- Treatment recommendations include VWF-containing products to stabilize endogenous FVIII.