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

Figure 2. and . 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. . 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.
Figure 2. and . 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. . 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. Distinctive clinical features of Fabry disease. ABC

This Article

  1. Ann Intern Med February 18, 2003 vol. 138 no. 4 338-346
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