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The prevalence of Fabry Disease (FD) is estimated to range between 1:8,454 to 1:117,000 men. From large genetic screening programs in neonates, we know that the incidence of FD-related mutations is much more frequent, although these are not necessarily based on the development of subsequent clinical symptoms. “Classic” mutations are expressed in the range of 1:22,000 – 1:40,000 in men and “late onset” mutations between 1:1,000-1:3,000 in men and 1:6,000-1:40,000 in women.
The province of Catamarca is located in the Northwest region of the Argentine Republic. According to the provisional results of the “Censo Nacional de Población, Hogares y Viviendas 2022”, Catamarca has an estimated population of 429,556 inhabitants (210,053 men and 219,503 women). The departments of San Fernando del Valle de Catamarca (Capital), Santa Rosa and Ambato have 188,489, 13,383 and 5,027 inhabitants, respectively.
The objective of this study was to determine the minimum prevalence of FD in the province of Catamarca and in these departments, in October 2023.
A cross-sectional study was carried out. All patients of Catamarca origin who were diagnosed with FD between 2001 and 2023 at the “Centro de Investigación, Diagnóstico y Tratamiento de Enfermedad de Fabry” (CIDTEF) in Catamarca, Argentina were included.
The minimum prevalence of FD in the population was calculated by dividing: the inhabitants according to the provisional results of the “Censo Nacional de Población, Hogares y Viviendas 2022” of the total of the province and each department, into the number of confirmed cases with FD (without having taking into account diagnoses by neonatal screening.
The total number of patients with FD in Catamarca was 117, 26 men (22.2%) and 91 women (77.8%). Of them, 66 live in San Fernando del Valle de Catamarca (56.4%), 9 in the Department of Santa Rosa (7.7%) and 42 in Ambato (35.9%). The average age of the patients is 40.1 ± 19.8 years. A total of three different EF mutations were identified. At the time of diagnosis, the average age was 30.7 ± 19.8 years.
The minimum prevalence of FD in the province of Catamarca was 1:3,671 for the general population, 1:8,079 for men and 1:2,412 for women. The minimum prevalence in San Fernando del Valle de Catamarca was 1:2,856, in the department of Santa Rosa 1:1,487 and in the department Ambato 1:120 (Figure 1).
The province of Catamarca (in Argentina) has a very high prevalence of patients diagnosed with Fabry Disease, especially in the Ambato Department. These are among the highest in the world currently published, even compared with the results obtained by neonatal screening for genetic mutations.