Angiokeratomas in Fabry Disease

Abstract

A 45-year-old man was referred to our hospital for cardiomegaly and proteinuria. Physical examination showed that his fingers had several spotty lesions, which were punctate, blue-black, slightly raised, and small in size of several millimeters (Figure 1, arrows). His electrocardiogram showed abnormal T waves in leads V3-V6. His serum creatinine level was 1.8 mg/dL. Urinary protein excretion was about 1.5 g/d. Cardiac catheterization revealed left ventricular hypertrophy and normal coronary arteries. Renal biopsy revealed electron-dense materials forming whorled structures, “lamellar bodies,” a specific finding for Fabry disease, in glomerular epithelium by electron microscopy (Figure 2). Plasma α-galactosidase A (α-Gal A) activity was extremely reduced at a level of 0.10 nmol/mL/hr (normal range: 4.42±1.25). Re-interview revealed that he had been suffering from acroparesthesias and hypohidrosis from childhood. Thus, the characteristic finger lesions were thought to be angiokeratomas. Figure 2 View Large Image Figure Viewer