Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement
Therapy
- Robert J. Desnick, PhD, MD;
- Roscoe Brady, MD;
- John Barranger, MD, PhD;
- Allan J. Collins, MD;
- Dominique P. Germain, MD, PhD;
- Martin Goldman, MD;
- Gregory Grabowski, MD;
- Seymour Packman, MD; and
- William R. Wilcox, MD, PhD
-
From Mount Sinai School of Medicine, New York, New York; National Institute of Neurologic Disorders and Stroke, National Institutes
of Health, Bethesda, Maryland; University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania; University of Minnesota,
Minneapolis, Minnesota; Unité de Génétique Clinique, Hôpital Européen Georges Pompidou, Paris, France; Children's Hospital
Medical Center, Cincinnati, Ohio; University of California, San Francisco, San Francisco, California; and Cedars-Sinai Medical
Center, Los Angeles, California.
-
Figure 1. . 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. . 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. Distinctive laboratory findings in Fabry disease. AB
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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
- Copyright ©2004 by the American College of Physicians
-
Ann Intern Med
February 18, 2003
vol. 138
no. 4
338-346
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Figure 1. . 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. . 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. Distinctive laboratory findings in Fabry disease. AB
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
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