To the Editor:
Fabry disease is an X-linked disorder caused by glycosphingolipid accumulation due to α-galactosidase (GLA) deficiency. Data are limited in patients with Latin American ancestry. We present the case and genetics of a late-diagnosed Fabry disease patient who presented with end-stage renal disease.
Case Report
A 30-year-old Mexican man without known medical conditions was referred to our center because of abnormal renal function tests. He had experienced intermittent mild lower extremity edema for 10 years, which progressed significantly over a 2-week period. Review of systems revealed arthralgias, acroparesthesias, and hypohidrosis since early childhood. He denied any family history; however, his mother and maternal grandfather had similar, milder acroparesthesias.
Physical examination revealed marked teeth discoloration, mild neck vein distention, and regular tachycardia. A papular rash was observed on the dorsolateral aspect of his hands and forearms. He had 3+ lower extremity edema up to the knees, with chronic skin changes. The rest of the physical examination was unremarkable.
Relevant laboratory test results are summarized in Table. His electrocardiogram was consistent with significant left ventricular hypertrophy. The patient was started on fluid restriction and hemodialysis, which led to clinical and serologic improvement.
The presentation of end-stage renal disease in a young adult, in association with acroparesthesias, hypohidrosis, isosthenuria, and left ventricular hypertrophy suggested the diagnosis of Fabry disease. It was established by a serum leukocyte α-galactosidase level of 0.001 (reference range, 0.074-0.457). Genetic analysis confirmed the patient was hemizygous for a nonsense c.748C>T mutation in the GLA gene. Enzyme replacement therapy was successfully started, and he reports good quality of life.
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-Persio David López, MD, Laura Andreias, MD, Esteban Astiazarán-Symonds, MD, Jumana Chalabi, MD
This article originally appeared in the September 2017 issue of The American Journal of Medicine.
