Resumen

VALENTINI, Marcela; MAIANTI, Diego  y  FLORIO, Lucía. Fabry disease. Review for the clinical cardiologist. Rev.Urug.Cardiol. [online]. 2023, vol.38, n.1, e406.  Epub 01-Dic-2023. ISSN 0797-0048.  https://doi.org/10.29277/cardio.38.1.15.

Fabry disease is a genetic condition caused by a total or partial deficiency of the enzyme alphagalactosidase A involved in the catabolism of glycosphingolipids. This alteration generates the lysosomal deposit of the globotriasylceramide residue (Gb-3) at the multi-tissue level, predominantly in the kidneys, heart, nervous system and skin. Due to its low prevalence and its varied clinical presentation, it represents a true diagnostic challenge. The combination of family history of heart disease and kidney disease, different degrees of hypertrophy of the left ventricle, added to skin and neurological conditions and progressive kidney disease, should raise the possibility of Fabry disease. The cardiologist who studies a patient with ventricular hypertrophy is the one who should suspect it and make a differential diagnosis of hypertrophic cardiomyopathies, hypertensive heart disease or other cardiomyopathies due to deposits. Diagnostic complementation with a cardiac resonance study has been extremely important in recent years. Enzymatic and genetic studies, previously very difficult to acquire in our environment, are currently feasible. An early diagnosis is key to starting enzyme replacement therapy, avoiding more extensive and irreversible damage, and allowing affected family members to be identified in the early stages.

Palabras clave : Fabry disease; Alphagalactosidase A; Diagnosis; Enzyme replacement therapy.

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