Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network

• Published in: Orphanet Journal of Rare Diseases 2024, Vol.19 (1)
• Main Authors: de Oliveira, Bibiana Mello, Bernardi, Filipe Andrade, Baiochi, João Francisco, Neiva, Mariane Barros, Vergara, Alberto Andrade, Acosta, Angelina Xavier, Husny, Antonette Souto El, Kim, Chong Ae, Yamada, Diego Bettiol, Serpa, Faradiba Sarquis, Brandão, Flávia Reseda, Carvalho, Isabelle, Junior, Juan Clinton Llerena, Galera, Marcial Francis, Filho, Márcio Eloi Colombo, De Oliveira Cardoso, Maria Teresinha, Zeny, Michelle, Caldato, Milena Coelho Fernandes, Sorte, Ney Boa, Musolino, Nina Rosa de Castro, Maia, Rayana Elias, Fock, Rodrigo, Almeida, Rosemarie Elizabeth Schimidt, Amorim, Tatiana, Teixeira, Thaís Bomfim, Prazeres, Vania Mesquita Gadelha, Lima, Vinicius Costa, Paiva, Wagner José Martins, Schwartz, Ida Vanessa Doederlein, de Sousa Melo, Adlya, Aragão, Amanda, Braccini, Amanda Delfino, Schmidt, Amanda Maria, Oliveira, Anne Caroline Magalhães, Perico, Arthur, da Silva Aniceto, Bárbara, Pinheiro, Barbara, Badaró, Beatriz Ono, Braga, Beatriz Brasil, Pinheiro, Beatriz Felix, Pereira, Beatriz, de Souza Ponce, Betânia, Martins, Bianca, de Eça, Blenda Antunes Cacique Curçino, Paschoalino, Brunno Busnardo, Valadares, Bruno, de Oliveira, Caio Lôbo, Alexandre, Carine Pacheco, Girelli, Carla Desengrini, de Paiva Farias, Carolina, Vilemar, Carolina Oliveira, Arrigoni, Caroline Duarte, Harumi, Catharine, Barbieri, Cleber, Prado, Daniel, da Silva Cruz, Dhallya Andressa, Batista, Eduardo, Boggian, Flavia, Filho, Francisco André Gomes Bastos, Pereira, Gabriel, Diehl, Gabrielle, Mello, Helena, Veiga, Henrique, Gabriel, Ingrid, Ferreira, Janaina, Florêncio, Jôbert Pôrto, Filho, Josevaldo Monteiro Maia, Milke, Julia Cordeiro, Rios, Juliana, de Oliveira, Karina Montemor Klegen, de Carvalho, Katheryne Barbosa, Zulszeski, Kauanne, Nascimento, Livia Polisseni Cotta, Medeiros, Luana, de Oliveira Simões, Luiza, Dias, Maria Teresa Aires Cabral, dos Santos, Mariana Lopes, Neves, Mariana Pacheco Oliveira, Leal, Matheus Viganô, Tacla, Milena Atique, Souza, Milena Soares, Soares, Natan, da Silva Gilbert, Nicole, Sousa, Paula Dourado, Rocha, Paulo, Jacob, Raissa Emanuelle, da Silva, Raissa Vieira Leite, Carvalho, Raniery Barros, Santos, Raphaella Nagib Carvalho, Holanda, Rebeca Pedrosa, Mourão, Rebeca Falcão Lopes, de Oliveira, Ricardo Cunha, Morais, Sergio, Nhime, Simei, dos Santos Gomes, Thuanne Cidreira, Rocha, Victória, Leão, Vitor, Miguel, Willian, de Araújo Ribeiro, Yasmin, dos Santos, Yasmin Amorim
• Format: Report
• Language: English
• Subjects: Care and treatment; Data entry; Demographic aspects; Methods; Rare diseases; Sentinel health events; Statistics
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-024-03392-7

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. 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 ([+ or -] 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. 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.