Abstract
Fabry disease (FD) is an X-linked disorder resulting in α-galactosidase A activity deficiency. Late-onset FD, especially in elderly patients without classical symptoms, is difficult to diagnose, with manifestations that resemble natural aging. We report late-onset FD in elderly brothers who showed left ventricular hypertrophy (LVH) with arrythmia. Only the younger brother had chronic kidney disease, but kidney sections from both showed significant glycosphingolipid deposition. LVH is most frequent in elderly patients with FD, leading to an earlier diagnosis and treatment. FD should be considered in all patients with LVH, even at older age, given the presence of a late-onset variant.
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