Anderson-Fabry disease: Extrarenal, neurologic manifestations

The advent of enzyme replacement therapy for Anderson-Fabry disease (AFD) adds impetus for the early detection of patients with this inherited multiorgan lipid storage disease. The resultant accumulation of neutral glycosphingolipids, especially globotriaosylceramide (Gb(3)). in various cell types promotes development of disease-related complications associated with renal, cardiovascular, and cerebrovascular involvement. In the central nervous system, diffuse storage occurs in the cerebral vasculature, with more localized involvement of central neurons together with the dorsal root and autonomic ganglia in the peripheral nervous system (1.2.3). Although the disease primarily manifests among hemizygous males, a significant proportion of heterozygous (carrier) females also develop symptoms albeit with a later age of onset (4,5,6). This article focuses on neurologic manifestations of AFD. which when present can lead the nephrologist to consider the disease.