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. 2024 Oct 30;19(1):405.
doi: 10.1186/s13023-024-03392-7.

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

Bibiana Mello de Oliveira  1   2 , Filipe Andrade Bernardi  3 , João Francisco Baiochi  4 , Mariane Barros Neiva  5 , Milena Artifon  6 , Alberto Andrade Vergara  7 , Ana Maria Martins  8 , Anete Sevciovic Grumach  9 , Angelina Xavier Acosta  10 , Antonette Souto El Husny  11 , Bethania de Freitas Rodrigues Ribeiro  12 , Camila Ferreira Ramos  13 , Carlos Eduardo Steiner  14 , Chong Ae Kim  15 , Denise Maria Christofolini  9 , Diego Bettiol Yamada  16 , Ellaine Doris Fernandes Carvalho  17 , Erlane Marques Ribeiro  18 , Fabíola de Arruda Bastos  19 , Faradiba Sarquis Serpa  20 , Flávia Reseda Brandão  21 , Giselle Maria Araujo Felix Adjuto  22 , Isabelle Carvalho  5 , Jonas Alex Morales Saute  23 , Juan Clinton Llerena Junior  24 , Larissa Souza Mario Bueno  25 , Luiz Carlos Santana da Silva  11 , Mara Lucia Schmitz Ferreira Santos  26 , Marcela Câmara Machado Costa  27 , Marcia Maria Costa Giacon Giusti  28 , Marcial Francis Galera  29 , Márcio Eloi Colombo Filho  3 , Maria Denise Fernandes Carvalho de Andrade  30 , Maria Teresinha De Oliveira Cardoso  22   31 , Marilaine Matos de Menezes Ferreira  27 , Michelle Zeny  26 , Milena Coelho Fernandes Caldato  32 , Ney Boa Sorte  13 , Nina Rosa de Castro Musolino  33 , Paula Frassinetti Vasconcelos de Medeiros  34 , Paulo Ricardo Gazzola Zen  35 , Raquel Tavares Boy Da Silva  36 , Rayana Elias Maia  37 , Rodrigo Fock  8 , Rosemarie Elizabeth Schimidt Almeida  38 , Solange Oliveira Rodrigues Valle  39 , Tatiana Amorim  40 , Thaís Bomfim Teixeira  41 , Vania Mesquita Gadelha Prazeres  42 , Victor Evangelista de Faria Ferraz  43 , Vinicius Costa Lima  44 , Wagner José Martins Paiva  38 , Ida Vanessa Doederlein Schwartz  1   2 , Domingos Alves  4   45 , Têmis Maria Félix  46 ; Raras Network Group
Collaborators, Affiliations

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

Bibiana Mello de Oliveira et al. Orphanet J Rare Dis. .

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: Brazil; Brazilian Rare Diseases Network; Public Health System; Rare diseases.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
a Histogram of participants’ age and sex distribution (n = 12,502) and b diagnostic status (n = 12,279)
See this image and copyright information in PMC

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