Chapter 29 - Fabry–Anderson Disease

Abstract

This chapter discusses Fabry–Anderson disease (FAD), which is an X-linked glycolipid lysosomal storage disorder that is caused by an alpha-galactosidase deficiency. The unusual array of mostly nonspecific symptoms by which FAD may express itself explains why these historical difficulties are still extant for the clinician who needs to distinguish a rare disorder under commonplace manifestations. FAD is a chronic malady with lifelong, mostly nonspecific manifestations. The first symptom of FAD is generally a bout of excruciating burning pain in the extremities. Clinical signs of peripheral neuropathy are not a feature of FAD. Because globoside, the major erythrocyte glycolipid, is an important source of ceramide trihexoside during the degradation of aging cells, one would expect that the reticuloendothelial system is heavily involved, as is the rule in the multisystemic storage disorders.