Why the study?
What is the prevalence of VWF gene mutations and the relationship between phenotype and genotype in patients historically diagnosed with type 1 von Willebrand disease?
Population
150 index cases from families historically diagnosed with type 1 von Willebrand disease
Design
Cohort
Authors
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May indicate misclassification of some historical type 1 VWD; leaves open the role of genetic testing in refining diagnosis.
What is the prevalence of VWF gene mutations and the relationship between phenotype and genotype in patients historically diagnosed with type 1 von Willebrand disease?
About one third of historical type 1 VWD cases may actually be type 2, and mutations are only found in 55% of 'true' type 1 VWD cases.
Goodeve et al. (2006) studied this question.
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