Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network
Bibiana Mello de Oliveira, Filipe Andrade Bernardi, João Baiochi, Mariane Barros Neiva, Milena Artifon, A Vergara, Ana Maria Martins, Anete Sevciovic Grumach, Angelina Xavier Acosta, Antonette Souto El Husny, B. Ribeiro, Camila Ferreira Ramos, Carlos Eduardo Steiner, Chong Ae Kim, Denise Maria Christofolini, Diego Bettiol Yamada, Ellaine Dóris Fernandes Carvalho, Erlane Marques Ribeiro, Fabíola de Arruda Bastos, Faradiba Sarquis Serpa, Flávia Reseda Brandão, Giselle Maria Araujo Felix Adjuto, Isabelle Carvalho, Jonas Alex Morales Saute, Juan Clinton Llerena, Larissa Souza Mario Bueno, Luiz Carlos Santana da Silva, Mara Lúcia Schmitz Ferreira Santos, Marcela Câmara Machado Costa, Marcia Maria Costa Giacon Giusti, Marcial Francis Galera, Márcio Eloi Colombo Filho, Maria Denise Fernandes Carvalho de Andrade, Marisa Ribeiro de Itapema Cardoso, Marilaine Matos de Menezes Ferreira, Michelle Silva Zeny, Milena Coelho Fernandes Caldato, Ney Boa‐Sorte, Nina Rosa de Castro Musolino, Paula Frassinetti Vasconcelos de Medeiros, Paulo Ricardo Gazzola Zen, Raquel Tavares Boy da Silva, Rayana Elias Maia, Rodrigo Ambrósio Fock, Rosemarie Elizabeth Schimidt Almeida, Solange Oliveira Rodrigues Valle, Tatiana Amorim, Thaís Bomfim Teixeira, Vânia Mesquita Gadelha Prazeres, Victor Evangelista de Faria Ferraz, Vinícius Lima, Wagner José Martins Paiva, Ida Vanessa Döederlein Schwartz, Domingos Alves, Têmis Maria Félix, Raras Network Group, Adlya de Sousa Melo, Adrya Rafaela da Silva Rocha, Amanda Aragão, Amanda Delfino Braccini, Amanda Maria Schmidt, Ana Mondadori dos Santos, Ana Carolina de Souza e Silva, Ana Lúcia Lei Munhoz Lima, Anna Luiza Scasso, Anne Caroline Magalhães Oliveira, Arthur Perico, Bárbara da Silva Aniceto, Bárbara Carine Soares Pinheiro, Beatriz Ono Badaró, Beatriz Brasil Braga, Beatriz de Oliveira Chapiesk, Beatriz Pinheiro, Beatriz Pereira, Betânia de Souza Ponce, Bianca Rocha Martins, Blenda Antunes Cacique Curçino de Eça, Bruna de Souza, Brunno Busnardo Paschoalino, Bruno Lassmar Bueno Valadares, Caio Lôbo de Oliveira, Camila Ferreira Sales, Carine Pacheco Alexandre, Carla Desengrini Girelli, Carolina Balluz, Carolina de Paiva Farias, Carolina Oliveira Vilemar, Caroline Duarte Arrigoni, Catharina de Almeida Passos, Catharine Harumi, Cleber Barbieri, Daniel Prado, Daniela Monteiro, Dhallya Andressa da Silva Cruz, Eduardo de Miranda Batista, Eduardo José Pereira Naves, Elaine Samara Pinheiro Mendes da Silva, Estela Teixeira, Fabio Amaral, Fernanda Caroline Moreira
Abstract
BACKGROUND: The Brazilian Policy for Comprehensive Care for People with Rare Diseases was implemented in 2014; however, national epidemiological data on rare diseases (RDs) are scarce and mainly focused on specific disorders. To address this gap, University Hospitals, Reference Services for Neonatal Screening, and Reference Services for Rare Diseases, all of which are public health institutions, established the Brazilian Rare Diseases Network (RARAS) in 2020. The objective of this study was to perform a comprehensive nationwide epidemiological investigation of individuals with RDs in Brazil. This retrospective survey collected data from patients receiving care in 34 healthcare facilities affiliated with RARAS in 2018 and 2019. RESULTS: The survey included 12,530 participants with a median age of 15.0 years, with women representing 50.5% of the cohort. Classification according to skin color demonstrated that 5044 (47.4%) participants were admixed. Most had a confirmed diagnosis (63.2%), with a predominance of phenylketonuria (PKU), cystic fibrosis (CF), and acromegaly. Common clinical manifestations included global developmental delay and seizures. The average duration of the diagnostic odyssey was 5.4 years (± 7.9 years). Among the confirmed diagnoses, 52.2% were etiological (biochemical: 42.5%; molecular: 30.9%), while 47.8% were clinical. Prenatal diagnoses accounted for 1.2%. Familial recurrence and consanguinity rates were 21.6% and 6.4%, respectively. Mainstay treatments included drug therapy (55.0%) and rehabilitation (15.6%). The Public Health System funded most diagnoses (84.2%) and treatments (86.7%). Hospitalizations were reported in 44.5% of cases, and the mortality rate was 1.5%, primarily due to motor neuron disease and CF. CONCLUSION: This study marks a pioneering national-level data collection effort for rare diseases in Brazil, offering novel insights to advance the understanding, management, and resource allocation for RDs. It unveils an average diagnostic odyssey of 5.4 years and a higher prevalence of PKU and CF, possibly associated with the specialized services network, which included newborn screening services.