Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey.
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de Oliveira Bibiana Mello, Broch Monique Sartori, de Oliveira Carolina Peçaibes, Piovesana Angélica, Lorea Claudia Fernandes, Scortegagna Mariana Lima, Fighera Gabriella Zanin, Viegas Isadora, Barp Laíse Pauletti, Alonso Mateus, Vergara Alberto, Martins Ana Maria, Grumach Anete Sevciovic, Acosta Angelina Xavier, Ribeiro Bethania de Freitas Rodrigues, Ramos Camila Ferreira, Grangeiro Carlos Henrique Paiva, Kim Chong Ae, Melo Debora Gusmão, Michelatto Débora, Christofolini Denise, Carvalho Ellaine Doris Fernandes, Ribeiro Erlane Marques, Serpa Faradiba Sarquis, Brandão Flavia Resedá, Monlleó Isabella Lopes, Oliveira Joyceane Alves, Llerena Juan Clinton, Donis Karina Carvalho, Giuliani Liane de Rosso, Pinto Louise Lapagesse de Camargo, da Silva Luiz Carlos Santana, Costa Marcela Câmara Machado, Galera Marcial Francis, Giusti Marcia Maria Costa Giacon, Santos Mara Lucia Schmitz Ferreira, de Andrade Maria Denise Fernandes Carvalho, Cardoso Maria Teresinha De Oliveira, Caldato Milena Coelho Fernandes, Pereira Natalya Gonçalves, Boa Sorte Ney, de Medeiros Paula Frassinetti Vasconcelos, Zen Paulo Ricardo Gazzola, da Silva Raquel Tavares Boy, Maia Rayana Elias, Kyosen Sandra Obikawa, Valle Solange, Amorim Tatiana, Teixeira Thaís Bomfim, Prazeres Vania Mesquita Gadelha, de Faria Ferraz Victor Evangelista, Schwartz Ida Vanessa Doederlein, Alves Domingos, Félix Têmis Maria, Raras Network Group
Аннотация
OBJECTIVE: This study aims to characterize the diagnostic odyssey of individuals with rare diseases using data from the Brazilian Rare Diseases Network (RARAS).
METHODS: This descriptive cross-sectional study analyzed ambispective data collected from 2018-2025 across RARAS centers nationwide. Diagnostic odyssey was defined as the time between symptom onset and definitive diagnosis. Prenatal and newborn screening diagnoses were excluded. Sociodemographic, clinical and etiological data were collected through a standardized REDCap-based instrument.
RESULTS: Among 18,625 unique participants, 12,048 had confirmed diagnoses and 5,984 met criteria for diagnostic odyssey analysis. The mean diagnostic interval was 6.21 years (± 8.41; median 2.94, IQR 0.80-8.13), indicating substantial heterogeneity. Longer delays were observed in individuals with symptom onset during adolescence. Patients referred during hospital admission experienced shorter diagnostic intervals. Regional differences were significant (p <0.001), with longer intervals in the Southeast region. Mean time to diagnosis ranged from 2.01 (± 2.89) years (achondroplasia) to 16.40 (± 12.59) years (hereditary angioedema). Patients consulted a mean of 5.32 (± 9.63) physicians and accessed 3.15 (± 4.96) healthcare services before diagnosis. Diagnostic intervals varied by race/ethnicity and etiological category, with longer delays among those with molecular diagnoses, while no association was observed with socioeconomic class.
CONCLUSION: The diagnostic odyssey for rare diseases in Brazil remains prolonged and heterogeneous, reflecting structural disparities, healthcare fragmentation, and diagnostic complexity. These findings suggest that delays are not driven solely by limited access to advanced diagnostics, but also by barriers in early recognition, referral pathways, and care coordination, underscoring the need for integrated strategies across the health system.