Introdução: A Política Nacional de Atenção Integral às Pessoas com Doenças Raras foi estabelecida em em 2014. Até o momento foram habilitados 17 Serviços ou Centros de Referência em Doenças Raras (SRDR), entretanto ainda faltam dados epidemiológicos sobre as condições assistidas e os procedimentos realizados. Objetivos: Descrever as patologias assistidas e os procedimentos realizados nos SRDR no período entre 2017 e junho de 2020. Métodos: Estudo descritivo documental com dados coletados por meio do Departamento de Informações do Sistema Único de Saúde (DATASUS) referentes à produção dos SRDR entre 2017 e junho de 2020. Resultados: Dos 17 SRDR habilitados, somente 9 apresentaram produção no período, entretanto 6 foram habilitados em 2016, 1 em 2018 e 2 em 2019. Estes SRDR se localizam na Região Sudeste (3), Sul (2), Nordeste (2) e Centro-Oeste (2). Foram realizados 22.437 procedimentos (2.943±3.653 por centro), destes, 6.771 foram procedimentos de Aconselhamento Genético e o restante (15.666) procedimentos diagnósticos do Eixo I:2 (deficiência intelectual, 28,3%), seguido pelo Eixo I:1 (anomalias congênitas e de manifestação tardia, 24,7%) e Eixo I:3 (erros inatos do metabolismo, 23,3%). Os CIDs mais frequentemente informados foram: F790 - Retardo Mental (RM) não Especificado (1.306, 5,8%), F71.0 - RM Moderado (1.129, 5,02%), Q780 - Osteogênese Imperfeita (1071, 4,76%), Q85.0 - Neurofibromatose (987, 4,38%), G11.2 - Ataxia cerebelar de início tardio (958, 4,26%), Q87.8 - Síndromes com malformações congênitas especificadas (909- 4,04%), F70.0 - RM leve (875, 3,89%), G71.0 - Distrofia muscular (820, 3,64%), entre outras. Conclusão: A classificação CID-10 é conhecida por não ser a classificação ideal para DR, desta forma, outros métodos de classificação devem ser utilizados para identificar estas doenças. Os dados disponíveis referem-se a procedimentos realizados e não a pacientes atendidos, portanto um estudo epidemiológico multicêntrico será fundamental para um melhor reconhecimento da assistência às DR no âmbito do SUS.

Introduction: Although it has been said that 'health is priceless', it certainly has its costs. In the last decades, the growing expenditure on health has raised concerns about better management of resources destined for this purpose. Among the factors related to the increase in health costs, changes in morbidity and mortality patterns in contemporary societies are evident, which can be explained by the reduction in infectious and contagious diseases and the increase in chronic degenerative ones. Hereditary Angioedema is a chronic disease that requires regular medical follow-up and treatment. The aim of this study was to evaluate the direct and indirect costs of Hereditary Angioedema with C1 inhibitor deficiency (C1-INH-HAE) treatment in specialized centers in Brazil. Methods: The present study is part of the National Network for Rare Diseases. It has a prospective and retrospective design that aims to understand and measure the Care Value Journey (CVJ) of patients with C1-INH-HAE in Brazil. It was carried out in 116 patients of 7 reference centers. Questionnaires were applied to patients/caregivers, one retrospective and one prospective (v1), containing general data about the patient; diagnosis, treatment, productivity, costs and evolution of the disease. In addition, interviews were conducted with nurses, doctors and administrators allocated in the centers to understand the reality of the resources used within the protocols used for management of C1-INH-HAE in each institution. Results: The most frequently used drug for long-term prophylaxis was oxandrolone [25/116; 21,5%], followed by danazol [14/116; 12.6%] and tranexamic acid [14/116; 12.06%]. The average monthly cost of oxandrolone was US$ 19.94; danazol, US$ 24.05 and tranexamic acid, US$ 8.61. Icatibant Acetate was the most commonly used medication for on demand treatment [14/116; 12.06%], with a mean use of 3 shots every 4 months for each patient. This drug was obtained through lawsuit and the cost per application was US$ 1,416.26. The total cost of this patient's care journey, including medical appointments, exams and medications was US$ 23,391.31 per year. Loss of productivity at work, which is an indirect cost, must also be taken into account in a pharmacoeconomic study. The time spent in a 1-year follow-up of a patient with C1-INH-HAE, taking into account medical appointments and exams, was 372.5 minutes. This time can reflect on absenteeism at work and school. The assessment of productivity loss, assessed using the Work Productivity and Activity Impairment - General Health (WPAI-GH) questionnaire, was answered by 7 caregivers and 87 patients. Of these, 46 patients and 4 caregivers answered that they were employed. The percentage of commitment during work (presenteeism) was 32.4% and the absenteeism (time lost from work) was 17.2%. Conclusion: The direct and indirect costs that patients with C1-INH-HAE have with the treatment of the disease are excessively high considering the socioeconomic level of Brazilian population. More investments in pharmacoeconomic studies are needed to think of strategies that minimize these costs

The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD). Several laboratory tests, most using molecular genetic technologies, have been incorporated by the Brazilian Public Health System, and 18 specialised centres have so far been established at university hospitals (UH) in the capitals of the Southern, Southeastern and Northeastern regions. However, whether the available human and technological resources in these services are appropriate and sufcient to achieve the goals of care established by the BPCCPRD is unknown. Despite great advances in diagnosis, especially due to new technologies and the recent structuring of clinical assessment of RD in Brazil, epidemiological data are lacking and when available, restricted to specifc disorders. This position paper summarises the performance of a nationally representative survey on epidemiology, clinical status, and diagnostic and therapeutic resources employed for individuals with genetic and non-genetic RD in Brazil. The Brazilian Rare Disease Network (BRDN) is under development, comprising 40 institutions, including 18 UH, 17 Rare Diseases Reference Services and fve Newborn Screening Reference Services. A retrospective study will be initially conducted, followed by a prospective study. The data collection instrument will use a standard protocol with sociodemographic data and clinical and diagnostic aspects according to international ontology. This great collaborative network is the frst initiative of a large epidemiological data collection of RD in Latin America, and the results will increase the knowledge of RD in Brazil and help health managers to improve national public policy on RD in Brazil.