Abstract
BackgroundType 3 von Willebrand's disease (VWD) patients present markedly reduced levels of von Willebrand factor and factor VIII. Because of its rarity, the bleeding phenotype of type 3 VWD is poorly described, as compared to type 1 VWD. AimsTo evaluate the frequency and the severity of bleeding symptoms across age and sex groups in type 3 patients and to compare these with those observed in type 1 VWD patients to investigate any possible clustering of bleeding symptoms within type 3 patients. MethodsWe compared the bleeding phenotype and computed the bleeding score (BS) using the MCMDM‐1VWD bleeding questionnaire in patients enrolled in the 3WINTERS‐IPS and MCMDM‐1VWD studies. ResultsIn 223 unrelated type 3 VWD patients, both the BS and the number of clinically relevant bleeding symptoms were increased in type 3 as compared to type 1 VWD patients (15 versus 6 and 5 versus 3). Intracranial bleeding, oral cavity, hemarthroses, and deep hematomas were at least five‐fold over‐represented in type 3 VWD. A more severe bleeding phenotype was evident in patients having von Willebrand factor antigen levels < 20 IU/dL at diagnosis in the two merged cohorts. In type 3 patients, there was an apparent clustering of hemarthrosis with gastrointestinal bleeding and epistaxis, whereas bleeding after surgery or tooth extraction clusters with oral bleeding and menorrhagia. ConclusionsIn the largest cohort of type 3 VWD patients, we were able to describe a distinct clinical phenotype that is associated with the presence of a more severe hemostatic defect.
Highlights
Von Willebrand Disease (VWD) is an inherited disorder caused by a deficiency of the activity of von Willebrand factor (VWF), a multifunction plasma protein primarily binding to platelet GpIb and subendothelial collagen [1, 2]
There were 18 (8.1%) type 3 patients that had a normal bleeding score (BS) at diagnosis, as compared with 138 (33.1%) type 1 patients
Since the ABO blood group was distributed in Iranian and non-Iranian patients in the 3WINTERS-IPS cohort (p=0.48, chi-square test), this difference most likely reflects an influence of the ABO blood group in the diagnostic process of type 1 von Willebrand’s disease (VWD)
Summary
Von Willebrand Disease (VWD) is an inherited disorder caused by a deficiency of the activity of von Willebrand factor (VWF), a multifunction plasma protein primarily binding to platelet GpIb and subendothelial collagen [1, 2]. Collaborative studies have described the bleeding phenotype of type 1 VWD, confirming the highly heterogeneous variability of bleeding severity [13,14,15,16]. The study was designed to assess the clinical phenotype of type 3 VWD, describe its laboratory pattern and genetic background, and assess the safety and efficacy of therapeutic products for the prevention and treatment of bleeding symptoms. We aimed at evaluating the clinical presentation of type 3 VWD patients enrolled by the 3WINTERS-IPS. We aimed at describing the frequency of the different bleeding symptoms and comparing them with those reported by type 1 VWD patients. Type 3 von Willebrand’s disease (VWD) patients present markedly reduced levels of von Willebrand factor and factor VIII. The bleeding phenotype of type 3 VWD is poorly described, as compared to type 1 VWD
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