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

DOI
https://doi.org/10.1186/s13023-024-03392-7
Journal volume & issue
Vol. 19, no. 1
pp. 1 – 13

Abstract

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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.

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