Fabry Disease (Fabry's Disease; Angiokeratoma Corporis Diffusum) By Matt Demczko, MD, Mitochondrial Medicine, Children's Hospital of Philadelphia Reviewed / Revised Oct 2021 | Modified Sep 2022 View Patient Education More Information Topic Resources Angiokeratomas in Fabry Disease Fabry disease is a sphingolipidosis, an inherited disorder of metabolism, caused by deficiency of alpha-galactosidase A, which causes angiokeratomas, acroparesthesias, corneal opacities, recurrent febrile episodes, and renal or heart failure.