Epidemiology, patient journey and unmet needs related to hemophilia in Brazil: a scoping review with evidence map

Introduction Brazil is one of the countries with the largest population of people with hemophilia (PwH) worldwide. In this scoping review, we aim to investigate the Brazilian context for hemophilia regarding three predefined concepts: (i) clinical-epidemiological profile, (ii) burden of disease and (iii) patient journey and unmet needs. Methods Three questions in each concept guided the screening of references retrieved by systematic searches carried out in MEDLINE, LILACS and the Digital Library of Theses and Dissertations. Quantitative and qualitative studies conducted in Brazil from 2002 onwards were assessed for eligibility. Main results Ninety-two studies were included. A total of 66 studies addressed the concept “Clinical-epidemiological profile”, 31 investigated the concept of “Burden of disease” and 26 addressed the concept “Patient journey and unmet needs”. Based on these studies, pain and arthropathy affect a substantial proportion of the PwH, with physical functioning, pain and school or work being the domains of quality of life with the greatest impact. About 43 % to 82.6 % of the PwH are unemployed. Rates of inhibitor development are highly variable across studies, especially in hemophilia A. Adherence to prophylactic treatment ranges from 25 % to 72 %. The annualized bleeding rate is estimated at 2.4 ± 4.1. The barriers to treatment identified include distance to reference centers, lack of coordination of specialized and emergency care and restricted access to rehabilitation. Conclusions Hemophilia poses a considerable burden on the PwH. Despite the available modalities of treatment, there are remaining unmet needs that should be addressed by researchers and policy makers in the future.