Study of prevalence and clinical characterization of Fabry disease in a central northern region of Chile (2013–2023)

Background Fabry disease (FD) is an X-linked genetic disorder, resulting in deficiency or absence of the enzyme alpha-galactosidase A, causing progressive multisystem involvement. Diagnosis combines clinical evaluation, biochemical testing and genetic analysis. Early initiation of enzyme replacement therapy (ERT) is crucial to prevent irreversible damage. In Chile, information on prevalence and clinical characteristics of FD is limited. The study aimed to estimate the prevalence of FD and characterize patients in the Coquimbo Region of Chile, between 2013 and 2023. Methods Descriptive cross-sectional study of 69 patients with FD. The following variables were recorded in an anonymized clinical questionnaire: sex, age, residence, health insurance, start of therapy, type of ERT, chronic medication, type of clinical manifestation and type of genetic mutation. Descriptive statistics and correlation tests were used for the analysis. Prevalence was calculated on the regional population average projected by the National Institute of Statistics (INE) for the period 2013–2023. Results The regional prevalence rate was 8.44 per 100,000 inhabitants (95% CI: 6.44–10.43), with a particularly high value in the commune of Coquimbo (22.45 per 100,000 inhabitants). The majority were women (58.0%), with a mean age of 35.8 years. Ninety-four percent had the classical form of FS, and 95.7% carried the P259R mutation. ERT was initiated in 2016 for 58% of patients, and 55.1% received agalsidase alfa. Peripheral nervous system (PNS) involvement was present in 71.0% and renal involvement in 39.1%. 46.4% used complementary drugs, mostly analgesics, antihypertensives and antineuropathics, whose consumption increases with age. The older the patient, the greater the number of affected systems. Those with PNS involvement were younger. Conclusions The Coquimbo Region has the highest recorded prevalence of FD in Chile, concentrated in the commune of Coquimbo. The age of entry into treatment significantly influences both the number of affected systems and the chronic use of drugs. The high frequency of the P259R mutation suggests the need for genetic studies to explore possible common origins and ethnic factors that influence the clinical expression of the FD. A specialized FD care center is a strength for conducting further research on the disease.