Resumen

LEDESMA-PORRAS, Yesenia et al. Identification of a family affected by Fabry disease, an urgent call for early diagnosis. Rev. virtual Soc. Parag. Med. Int. [online]. 2026, vol.13, n.1, e13142602.  Epub 27-Ene-2026. ISSN 2312-3893.  https://doi.org/10.18004/rvspmi/2312-3893/2026.e13142602.

Fabry disease (EF) is an X-linked lysosomal storage disorder caused by variants in the GLA gene. Its enzyme deficiency leads to the accumulation of globotriaosylceramide, causing progressive multisystem involvement. The diagnosis is confirmed by molecular analysis; however, access to this technology is limited in developing countries.

We report a 33-year-old male with cardiac, gastrointestinal, ophthalmological, dermatological, renal, and neurological manifestations, diagnosed with FD (pathogenic variant p.Arg227Gln). He did not receive enzyme replacement therapy due to its unavailability in Peru and died at age 37 from cardiac and renal complications. Cascade family screening identified 31 additional carriers, with frequent symptoms such as acroparesthesia, hypohidrosis, and angiokeratomas.

This is the first reported case of FD in Junín, Peru. The study highlights the need for early diagnosis, therapeutic availability, and family screening to improve prognosis and reduce mortality associated with this rare disease.

Palabras clave : Fabry disease; alpha-galactosidase A; lysosomal storage diseases; genetic testing.

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