Fabry disease is a genetic enzyme (alpha-galactosidase A) deficiency leading to accumulation of lipid in many cell types and affecting function of organs such as the kidneys and the heart as well as nerves. Untreated, it can lead to renal scarring, including glomerulosclerosis, ultimately progressing to end-stage kidney disease.
The diagnosis of Fabry disease is suggested by two particular and unusual findings on renal biopsy that, while highly suggestive, are not fully specific for Fabry’s. Thus, the standard of care requires the renal pathologist to identify these findings and suggest the possibility of Fabry’s disease. The diagnosis is then fully confirmed through additional clinical/genetic studies.
Fabry disease medical expert witness specialties include (medical) genetics, nephrology, pediatric nephrology, and renal pathology.