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Fabry Disease: An Unusual Cause of Severe Coronary Disease in a Young Man

Edward A. Fisher, MD; Robert J. Desnick, PhD, MD; Ronald E. Gordon, PhD; Christine M. Eng, MD; Randall Griepp, MD; and Martin E. Goldman, MD
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Grant Support: In part by a grant from the National Institutes of Health and a grant (RR-71) from the General Clinical Research Center, Division of Research Resources, National Institute of Health. Christine Eng was the recipient of a National Institutes of Health postdoctoral fellowship (5 T32HD07150).

Requests for Reprints: Martin E. Goldman, MD, The Mount Sinai Medical Center, Division of Cardiology, Box 1030, One Gustave L. Levy Place, New York, NY 10029.

Current Author Addresses: Drs. Fisher, Desnick, Gordon, Eng, Griepp, and Goldman: Mount Sinai Medical Center, One Gustave L. Levy Place, New York, NY 10029.

Ann Intern Med. 1992;117(3):221-223. doi:10.7326/0003-4819-117-3-221
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This excerpt has been provided in the absence of an abstract.

The differential diagnosis of angina in younger patients includes coronary atherosclerosis, valvular heart disease, hypertrophic cardiomyopathy, small-vessel disease, coronary spasm, and coronary anomalies. We describe a patient with typical angina caused by deposition in the coronary arteries of globotriaosylceramide, a glycosphingolipid, secondary to α-galactosidase A deficiency, which is pathognomonic for Fabry disease.

Case Report: Our patient, born on 13 March 1954, was diagnosed as having angiokeratoma, acroparasthesias, and hypohidrosis. When the patient was 27 years of age, Fabry disease was diagnosed on the basis of deficient α-galactosidase A activity (plasma level, 0.32 U/mL; normal range, 6.16 to 28.5 U/mL). Five


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