Edward A. Fisher, MD; Robert J. Desnick, PhD, MD; Ronald E. Gordon, PhD; Christine M. Eng, MD; Randall Griepp, MD; Martin E. Goldman, MD
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
Edward A. Fisher, Robert J. Desnick, Ronald E. Gordon, Christine M. Eng, Randall Griepp, Martin E. Goldman. 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.
Cardiology, Coronary Heart Disease, Encephalopathy, Neurology.
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