Late-Onset Fabry Disease Affecting the Kidneys and Liver While Sparing the Heart: A Case Report.

Abstract

Fabry disease (FD), also known as Anderson-Fabry disease, is an X-linked inherited lysosomal storage disorder caused by the deficiency or reduced activity of alpha-galactosidase Aenzyme, which results in the accumulation of globotriaosylceramide (Gb3) in the cells. Atypical (late-onset) FD is characterized by the preserved residual activity of alpha-galactosidase A enzyme resulting in a later presentation in life than classic FD. Patients with late-onset FD are usually present in their third to seventh decades of life with the heart being the most commonly affected organ. FD can also affect the renal and gastrointestinal (GI) systems, however, in the literature, FD limited to the kidneys is scarcely reported and there is no data to suggest disease involvement of the liver. We present a rare case of late-onset FD affecting the kidneys and liver without cardiac or other organ involvement in a patient without having a family history of FD.