Identifying type Vicenza von Willebrand disease

Alessandra Casonato, Elena Pontara, Francesca Sartorello, Maria Grazia Cattini, Lisa Gallinaro, Antonella Bertomoro, Antonio Rosato, Roberto Padrini, Antonio Pagnan

Research output: Contribution to journalArticlepeer-review

Abstract

Increased clearance of von Willebrand factor (VWF) is one of the main features of type Vicenza von Willebrand disease (VWD), a variant with plasma and platelet VWF level discrepancies and unusually large VWF multimers. Diagnosing type Vicenza VWD may not be easy, due to its heterogeneous phenotype. Here we describe the criteria we adopted to identify type Vicenza in a large group of VWD patients. Emphasizing the contribution of platelet VWF by comparison with plasma values, a first step involved selecting the candidate Vicenza patients on the basis of low or very low plasma VWF and a normal platelet VWF content. After excluding type 2A and 2B VWD patients, who may have normal platelet VWF, 18 candidates were found to meet our selection criteria. Genetic analysis revealed that 15 patients (from 5 unrelated families) were type Vicenza VWD and that all carried both G2220A and G3614A type Vicenza mutations barring one, who only had the G3614A mutation. All patients had a reduced VWF survival, and all but the patient with the G3614A mutation alone had ultralarge VWF multimers. Thus, low-plasma VWF associated with a normal platelet VWF content may be a first useful indicator for identifying type Vicenza VWD patients.

Original languageEnglish
Pages (from-to)96-102
Number of pages7
JournalThe Journal of Laboratory and Clinical Medicine
Volume147
Issue number2
DOIs
Publication statusPublished - Feb 2006

ASJC Scopus subject areas

  • Medicine(all)
  • Pathology and Forensic Medicine

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