Prevalence and sociodemographic, clinical, and genetic characteristics of Fabry disease in north-central Chile, 2013–2023

Background: Fabry disease (FD) is a rare genetic disorder linked to X chromosome, causing progressive multisystem involvement. Epidemiological data on FD are limited, both in Latin America and Chile. This study aimed to estimate the prevalence of FD and describe the sociodemographic and clinical characteristics of affected individuals in a north-central region of Chile. Methods: A descriptive cross-sectional study was conducted on 69 patients with FD during the period 2013-2023. An anonymized questionnaire collected data on sociodemographic variables, enzyme replacement therapy (ERT), chronic medications, clinical manifestations, and genetic variants. Descriptive statistics and correlation tests were used. Prevalence was estimated using official population data. Results: The regional prevalence rate was 8.44 per 100,000 inhabitants (95% CI: 6.44-10.43), with a particularly high rate 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. 94% had the classical form of FD, and 98.6% carried the c.776C > G (p.P259R) variant. ERT was initiated in 2016 for 58% of patients, and 55.1% received agalsidase alfa. Peripheral nervous system involvement was present in 71.0%, and kidney involvement in 39.1%. The older the patient, the more systems are affected. 46.4% used complementary drugs, mostly analgesics, antihypertensives and antineuropathics, whose consumption increases with age. Conclusions: The Coquimbo Region has the highest prevalence of FD in Chile. Age at treatment initiation influences system involvement and chronic medication use. The results highlight the need for additional genetic, epidemiological, and clinical studies in the region.