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Von Willebrand Disease (VWD)
Part 4: VWF Multimer Analysis

The Role of von Willebrand Factor Multimer Analysis in Diagnosis



Type 2M VWD

Slide 35

July 2011

The next and final patient had a disproportionate reduction in the von Willebrand factor activity assay compared to the antigen. The multimer analysis however demonstrated presence of ultralarge molecular weight multimers. This patient had a rare variant called type 2M von Willebrand disease, due to an arginine to cysteine mutation in amino acid 1374. In this variant, desmopressin is not always effective and von Willebrand factor concentrates would be the mainstay of therapy.

Type 2M VWD

 


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