Retrospective epidemiological study in a reference service for rare diseases, Salvador, 2018-2019

To describe an epidemiological survey involving individuals with rare diseases who attended from 2018 to 2019 in a reference service for rare diseases in Bahia.

The data were obtained from medical records, using three forms named "identification," "diagnosis," and "treatment," which were subsequently entered into the REDCap software and analyzed descriptively.

A total of 1,744 participants were included, of whom 69.3% were in the 0-19 age group (mean age of 15 years), with a predominance of female individuals (51.1%). Most cases had a confirmed diagnosis, while cases with a suspected diagnosis and undefined diagnosis accounted for 20.1% and 18.0%, respectively. Most diagnoses were made clinically, 58.4%. The mean age of onset of symptoms was 7.5 years. Family recurrence was reported in 36.7% of cases, and consanguinity in 16.1%. The mean maternal age at conception was 26.6 years, and the paternal age was 31.0 years. Approximately 94.0% of rare diseases were of genetic origin, of which 69.4% were included in the international disease classifications of the National Policy for the Comprehensive Care of Persons with Rare Diseases (Política Nacional de Atenção Integral às Pessoas com Doenças Raras, PNAIPDR).

A predominantly young sample was observed, with most having a confirmed diagnosis but experiencing delays in diagnosis, thus characterizing the sociodemographic and clinical profile of rare diseases treated at the service, whose information has been relevant for planning strategies regarding surveillance and the provision of care for this population.