What is it about?
Type 2M VWD fits a well-characterized profile with a normal multimer distribution but a reduction in VWF-platelet interactions or the existence of collagen-binding defects [1]. VWF binds fibrillar types I and III collagen via the A3 and A1 domains but binds subendothelial microfibrillar type VI collagen exclusively via the A1 domain.
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Why is it important?
This analysis in our small cohort of patients evinced that a laboratory approach based on the correlation of type III and type VI collagen-binding assays and molecular studies is indispensable for a more accurate diagnosis of type 2M VWD. Moreover, the detection of the specific type VI collagen-binding defect may contribute to the correct diagnosis of patients with a mild bleeding disorder who are often classified as having an undefined cause
Perspectives
The inclusion of both collagen-binding assays (type III and type VI) in our diagnostic algorithm enhanced the efficacy of the VWD diagnosis and consequently, the identification of the most appropriate management for each patient.
Dr Teresa Fidalgo
Read the Original
This page is a summary of: VWF collagen (types III and VI)-binding defects in a cohort of type 2M VWD patients - a strategy for improvement of a challenging diagnosis, Haemophilia, January 2017, Wiley,
DOI: 10.1111/hae.13156.
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