Orphanet Journal of Rare Diseases (Oct 2024)
Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network
- Bibiana Mello de Oliveira,
- Filipe Andrade Bernardi,
- João Francisco Baiochi,
- Mariane Barros Neiva,
- Milena Artifon,
- Alberto Andrade Vergara,
- Ana Maria Martins,
- Anete Sevciovic Grumach,
- Angelina Xavier Acosta,
- Antonette Souto El Husny,
- Bethania de Freitas Rodrigues Ribeiro,
- Camila Ferreira Ramos,
- Carlos Eduardo Steiner,
- Chong Ae Kim,
- Denise Maria Christofolini,
- Diego Bettiol Yamada,
- Ellaine Doris 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 Junior,
- Larissa Souza Mario Bueno,
- Luiz Carlos Santana da Silva,
- Mara Lucia 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,
- Maria Teresinha De Oliveira Cardoso,
- Marilaine Matos de Menezes Ferreira,
- Michelle 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 Fock,
- Rosemarie Elizabeth Schimidt Almeida,
- Solange Oliveira Rodrigues Valle,
- Tatiana Amorim,
- Thaís Bomfim Teixeira,
- Vania Mesquita Gadelha Prazeres,
- Victor Evangelista de Faria Ferraz,
- Vinicius Costa Lima,
- Wagner José Martins Paiva,
- Ida Vanessa Doederlein Schwartz,
- Domingos Alves,
- Têmis Maria Félix,
- Raras Network Group
Affiliations
- Bibiana Mello de Oliveira
- Medical Genetics Service, Hospital de Clínicas de Porto Alegre
- Filipe Andrade Bernardi
- Engineering School of São Carlos, Bioengineering Department, University of São Paulo
- João Francisco Baiochi
- Ribeirão Preto Medical School, University of São Paulo
- Mariane Barros Neiva
- Institute of Mathematics and Computer Sciences, São Carlos Campus, University of São Paulo
- Milena Artifon
- Medical Genetics Service, Hospital de Clínicas de Porto Alegre
- Alberto Andrade Vergara
- Hospital Infantil João Paulo II
- Ana Maria Martins
- Hospital São Paulo
- Anete Sevciovic Grumach
- Faculdade de Medicina do Centro Universitario FMABC
- Angelina Xavier Acosta
- Hospital Universitário Prof. Edgar Santos and Faculdade de Medicina da Bahia da Universidade Federal da Bahia
- Antonette Souto El Husny
- Hospital Universitário Bettina Ferro de Souza, Universidade Federal Do Pará
- Bethania de Freitas Rodrigues Ribeiro
- Fundação Hospital Estadual do Acre
- Camila Ferreira Ramos
- Hospital Universitário Prof. Edgar Santos
- Carlos Eduardo Steiner
- Universidade Estadual de Campinas
- Chong Ae Kim
- Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo
- Denise Maria Christofolini
- Faculdade de Medicina do Centro Universitario FMABC
- Diego Bettiol Yamada
- Ribeirao Preto Medical School, University of Sao Paulo
- Ellaine Doris Fernandes Carvalho
- Hospital Geral Dr. César Cals
- Erlane Marques Ribeiro
- Hospital Infantil Albert Sabin
- Fabíola de Arruda Bastos
- Centro Universitário do Estado do Pará
- Faradiba Sarquis Serpa
- Hospital Santa Casa de Misericórdia de Vitória
- Flávia Reseda Brandão
- Centro de Diabetes e Endocrinologia da Bahia
- Giselle Maria Araujo Felix Adjuto
- Hospital de Apoio de Brasília
- Isabelle Carvalho
- Institute of Mathematics and Computer Sciences, São Carlos Campus, University of São Paulo
- Jonas Alex Morales Saute
- Universidade Federal do Rio Grande do Sul
- Juan Clinton Llerena Junior
- Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira/Fiocruz
- Larissa Souza Mario Bueno
- Maternidade Climério de Oliveira
- Luiz Carlos Santana da Silva
- Hospital Universitário Bettina Ferro de Souza, Universidade Federal Do Pará
- Mara Lucia Schmitz Ferreira Santos
- Hospital Pequeno Príncipe
- Marcela Câmara Machado Costa
- Escola Bahiana de Medicina e Saúde Pública
- Marcia Maria Costa Giacon Giusti
- Instituto Jô Clemente
- Marcial Francis Galera
- Hospital Universitário Júlio Müller
- Márcio Eloi Colombo Filho
- Engineering School of São Carlos, Bioengineering Department, University of São Paulo
- Maria Denise Fernandes Carvalho de Andrade
- Hospital Universitário Walter Cantídio, Universidade Estadual do Ceará
- Maria Teresinha De Oliveira Cardoso
- Hospital de Apoio de Brasília
- Marilaine Matos de Menezes Ferreira
- Escola Bahiana de Medicina e Saúde Pública
- Michelle Zeny
- Hospital Pequeno Príncipe
- Milena Coelho Fernandes Caldato
- Centro Universitário do Pará
- Ney Boa Sorte
- Hospital Universitário Prof. Edgar Santos
- Nina Rosa de Castro Musolino
- Instituto de Psiquiatria Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
- Paula Frassinetti Vasconcelos de Medeiros
- Unidade Acadêmica de Medicina, Centro de Ciências Biológicas e de Saúde, Hospital Universitário Alcides Carneiro, Universidade Federal de Campina Grande
- Paulo Ricardo Gazzola Zen
- Hospital da Criança Santo Antônio, Universidade Federal de Ciências da Saúde de Porto Alegre
- Raquel Tavares Boy Da Silva
- Hospital Universitário Pedro Ernesto
- Rayana Elias Maia
- Hospital Universitário Lauro Wanderley
- Rodrigo Fock
- Hospital São Paulo
- Rosemarie Elizabeth Schimidt Almeida
- Universidade Estadual de Londrina
- Solange Oliveira Rodrigues Valle
- Hospital Universitário Clementino Fraga Filho
- Tatiana Amorim
- Associação de Pais e Amigos dos Excepcionais de Salvador
- Thaís Bomfim Teixeira
- Associação de Pais e Amigos dos Excepcionais de Anápolis
- Vania Mesquita Gadelha Prazeres
- Policlínica Codajás
- Victor Evangelista de Faria Ferraz
- Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo
- Vinicius Costa Lima
- Health Intelligence Laboratory, Ribeirão Preto Medical School, University of São Paulo
- Wagner José Martins Paiva
- Universidade Estadual de Londrina
- Ida Vanessa Doederlein Schwartz
- Medical Genetics Service, Hospital de Clínicas de Porto Alegre
- Domingos Alves
- Ribeirão Preto Medical School, University of São Paulo
- Têmis Maria Félix
- Medical Genetics Service, Hospital de Clínicas de Porto Alegre
- Raras Network Group
- DOI
- https://doi.org/10.1186/s13023-024-03392-7
- Journal volume & issue
-
Vol. 19,
no. 1
pp. 1 – 13
Abstract
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.
Keywords