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Von Willebrand disease (VWD) is an inherited bleeding disorder caused by defective or deficient von Willebrand factor (VWF). VWF is stored in endothelial cells and platelets and is released into the circulation along with its propeptide (VWFpp). Type 1 VWD is the most common form of the disease encountered in clinical practice, but whether the low levels of VWF are due to impaired synthesis or increased clearance of the factor has been unclear.
To characterize the molecular defect in type 1 VWD, investigators from the Molecular and Clinical Markers for the Diagnosis and Management of Type 1 VWD study group analyzed plasma of 744 individuals from 154 families. The researchers recorded levels of VWFpp, VWF antigen (VWFag), VWF activity (VWFac)…