Natural history of Fabry disease in males: preliminary observations

A large cohort of patients with Fabry disease is being studied to determine the natural history of the disease and how this relates to the specific mu tation involved and the amount of residual alpha -galactosidase A activity. To date, we have investigated the progression of cerebral lesions and stro ke, as identified by magnetic resonance imaging, and renal disease. Results have shown that cerebral lesions do not appear until 23 years of age, but are present in all patients by 55 years of age. The peak onset of proteinur ia occurred in the fourth decade, and the peak onset of chronic renal insuf ficiency and end-stage renal disease occurred in the fifth decade of life. Renal outcome was related to the type of mutation and residual enzyme activ ity. Data from these studies in untreated patients will be important when a ssessing the long-term efficacy of enzyme replacement therapy.