Molecular pathogenesis and heterogeneity in type 3 VWD families in U.S. Zimmerman program.

ABSTRACT:

Background

Type 3 von Willebrand Disease (VWD) is a rare and severe form of VWD characterized by the absence of von Willebrand factor (VWF).

Objectives

As part of the Zimmerman Program, we sought to explore the molecular pathogenesis, correlate bleeding phenotype and severity, and determine the inheritance pattern found in type 3 VWD families.

Patients/methods

62 index cases with a pre-existing diagnosis of type 3 VWD were analyzed. Central testing included FVIII, VWF:Ag, VWF:RCo, and VWFpp. Bleeding symptoms were quantified using the ISTH bleeding score. Genetic analysis included VWF sequencing, comparative genomic hybridization and predictive computational programs.

Results

75% of subjects (46) had central testing confirming type 3, while 25% were re-classifi

SUBMITTER: Christopherson PA 

PROVIDER: S-EPMC11892521 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature