Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy

View larger version (184K): [in a new window]   Figure 1. Distinctive laboratory findings in Fabry disease. A. Electron µgraph showing the vascular endothelium of a small vessel from a patient with Fabry disease. Note the electron-dense vesicles (lysosomes) in the endothelium containing undegraded glycosphingolipid. The progressive lysosomal accumulation in the vascular endothelium leads to ischemia and infarction of these vessels. B. Electrocardiogram of a 41-year-old man with classic Fabry disease showing sinus bradycardia with short PR interval (88 msec) and left ventricular hypertrophy with QRS widening and a repolarization abnormality.

View larger version (41K): [in a new window]   Figure 2. Distinctive clinical features of Fabry disease. A and B. Angiokeratomas. These characteristic dark red to blue-black angiectases are most often found in clusters between the umbilicus and thigh. The lesions are nonblanching, become larger and more numerous with age, and range in size from pinhead to several millimeters. C. Whorled corneal opacity that does not affect vision. This opacity, seen only by using slit-lamp microscopy, is found in almost all males with Fabry disease and in 70% to 90% of carrier females; it is often more distinctive in females. Note the whorl-like rays emanating from a single vertex.