Vascular abnormalities in patients with von Willebrand disease: A scoping review

Background: Qualitative or quantitative defects of von Willebrand factor (VWF) such as in von Willebrand disease (VWD) are associated with vascular abnormalities, especially in the gastrointestinal (GI) tract. However, the locations, extent, and natural history of vascular abnormalities in patients with VWD is not well understood. To summarize the existing literature on the topic, we conducted a scoping review of vascular abnormalities in patients with VWD.

Methods: We searched MEDLINE and EMBASE from inception to September 1, 2020, for studies clinically describing vascular abnormalities in VWD patients. Screening and data extraction was completed independently and in duplicate and each abnormality was documented individually.

Results: After screening, 54 studies that reported patient level data comprising 146 patients were included. Type 2A (39%) and type 3 (14.4%) were the most common VWD subtypes. The most common site of vascular malformation was the GI tract, occurring in 124 patients (84.9%), whereas 18 (12.3%) had non-GI vascular abnormalities and 4 (2.7%) had both GI and non-GI vascular abnormalities. With respect to outcomes, the clinical course was not specified in the majority (55.5%) of patients. Survey and population level data were reported in nine studies, demonstrating vascular abnormalities occurred at higher rates in VWD and that VWD patients are overrepresented among those with those abnormalities.

Conclusion: Vascular malformations in patients with VWD occur primarily in the gastrointestinal tract. Type 2A and type 3 VWD are the most common subtypes affected. The clinical treatment and natural history of these abnormalities remains understudied and further research is needed.