Presentation is usually in late childhood with death in the 2nd decade. Adult variants produce psychosis and dementia. Diagnosis and Treatment Type B is usually diagnosed in childhood because of the hepatosplenomegaly. A tissue biopsy should be performed in types A and B and diagnosis confirmed by acid sphingomyelinase assay. Biopsy specimens and tissue culture can demonstrate absence of acid sphingomyelinase.
Plasma lipids are usually normal.
A and B is done by amniocentesis or chorionic villus sampling. Treatment of all types is supportive and nonspecific. Fabry's disease is due to deficient activity of the lysosomal enzyme -galactosidase A, which is needed for normal catabolism of trihexosylceramide. Patients may have corneal opacities, febrile episodes, and burning pain in the extremities. Death results from renal failure or cardiac or cerebral complications of hypertension or other vascular disease.