Fabry disease; early diagnosis improves prognosis but diagnosis is often delayed

BACKGROUND: Fabry disease (FD) is a rare X-linked deficiency of lysosomal enzyme alpha-galactosidase (AGAL) resulting in accumulation of globotriaosylceramide (Gb-3) in the cells, with protean manifestations. Major organs affected are the kidneys, heart and nervous system. The diagnosis of FD is often delayed by many years. Enzyme replacement started early might reverse the organ damage while delayed initiation may only stabilize the disease progression.

CASE PRESENTATION: We describe a patient in whom involvement of different organs unfolded at different times and a detailed review of history by the clinician led to the diagnosis. The importance of electron microscopy (EM) of renal biopsy is highlighted.

CONCLUSIONS: Patients with FD are often diagnosed late because the manifestations can be variable and spread over different time periods. Detailed history including family history and examining the renal biopsy by EM are crucial for early diagnosis.