Hereditary/Acquired Bleeding Disorders

This literature review, published in Haemophilia and conducted by investigators from the SYMPHONY Consortium, the Netherlands, has focused on von Willebrand disease (VWD) in its evaluation of patient-reported outcomes and their measurement methods in autosomal inherited bleeding disorders, although studies of inherited platelet function disorders and coagulation factor deficiencies were also included. The authors identified 21 articles that met their inclusion criteria following a search of Embase, Medline ALL, Web of Science Core Collection, Cochrane Central Register of Controlled Trials, and Google Scholar databases from their inception until August 2020. Compared with the general population, patients with joint bleeds or heavy menstrual bleeding reported an increased level of pain. Patients with VWD reported lower health-related quality of life (HRQoL), particularly in the domains of vitality, physical and social functioning, and pain. Compared with men, women with inherited bleeding disorders — especially those with heavy menstrual bleeding — had lower HRQoL scores. As might be expected, in both hemophilia and VWD, patients' HRQoL was closely linked to disease severity. Patients with the most severe VWD type, VWD type 3, had HRQoL comparable to HRQoL observed with severe hemophilia, specifically in the domains of physical functioning and health, as well as general health, although hemophilia patients scored lower. The authors suggested that future studies of autosomal inherited bleeding disorders use established instruments such as the Patient-Reported Outcomes Measurement [PROM] Information System (PROMIS). Importantly, they wrote, "use of the right PROMs … in patients with autosomal inherited bleeding disorders could help with the sometimes-difficult decision to start treatment for specific subgroups of patients, for example, patients with a more severe bleeding phenotype, like VWD type 3, who may benefit from prophylactic or other supportive therapy."