Edward A. Fisher, MD; Robert J. Desnick, PhD, MD; Ronald E. Gordon, PhD; Christine M. Eng, MD; Randall Griepp, MD; Martin E. Goldman, MD
Fisher EA, Desnick RJ, Gordon RE, Eng CM, Griepp R, Goldman ME. Fabry Disease: An Unusual Cause of Severe Coronary Disease in a Young Man. Ann Intern Med. 1992;117:221-223. doi: 10.7326/0003-4819-117-3-221
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Published: Ann Intern Med. 1992;117(3):221-223.
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.
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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Cardiology, Neurology, Encephalopathy, Coronary Heart Disease.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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