Iatrogenic Phospholipidosis Mimicking Fabry Disease

FABRY DISEASE is one of several well-characterized lipidoses with a renal phenotype. This X-linked disease is caused by inactivation of the lysosomal enzyme α-galactosidase A, which can result in intracellular accumulation of globotriaosylceramide within a variety of renal cells, including podocytes, glomerular endothelial cells, mesangial cells, tubular epithelium, interstitial foam cells, vascular myocytes, and vascular endothelium. 1 Sessa A. Meroni M. Battini G. et al. Renal pathological changes in Fabry disease. J Inherit Metab Dis. 2001; 24: 66-70 Crossref PubMed Scopus (67) Google Scholar In many cells, especially podocytes, prominent vacuolization of cell cytoplasm caused by the presence of intracellular lipid inclusions can be recognized at the light microscopic level. Ultrastructural analysis invariably shows intracellular osmiophilic structures, including myelin figures or zebra bodies that are highly characteristic of this disease. However, certain drugs, of which amiodarone and chloroquine are most notable, can cause cellular injury indistinguishable from classic Fabry disease. This needs to be kept in mind in the evaluation of typical pathological lesions.