Article Abstract

Diagnosis and management of von Willebrand disease in Italy

Authors: Giancarlo Castaman, Emily Oliovecchio, Augusto B. Federici

Abstract

Despite the outstanding progress in understanding the clinical and pathophysiological aspects of von Willebrand disease (VWD), the general awareness about its true prevalence and heterogeneity of clinical features remain still incomplete. In Italy, a previous registry (RENAWI) has provided accurate clinical and laboratory data on 1,234 patients with VWD from 16 Italian centers. Currently, the National Registry on Inherited bleeding disorders, established in 1989, is gathering data on these disorders from 48 hemophilia treatment centers. As of October 2017, it includes data on 3,196 VWD patients. Diagnosis relies on the single center criteria. Type 1 VWD patients are 2,387 (74.7%), type 2 694 (21.7%), and type 3 115 (3.6%). Desmopressin appears to be widely used in type 1 and in a few cases of type 2A, 2M, and 2N. Seven patients with type 3 VWD reported anaphylactic reaction to plasma-derived von Willebrand factor (VWF) concentrate and all have homozygous VWF gene deletion. A significant proportion of patients with type 3 and to a lesser extent type 2A and 2B are on prophylaxis for joint or gastrointestinal bleeds. Increasing awareness and improved data collection have allowed a better understanding of the pathophysiology and the risk of bleeding and appropriate management in VWD in Italy.