Fabry Disease: An Unusual Cause of Severe Coronary Disease in a Young Man
Authors: Edward A. Fisher, Robert J. Desnick, Ronald E. Gordon, Christine M. Eng, Randall Griepp, Martin E. Goldman
Journal: Annals of Internal Medicine (1992)

Brief Reports1 August 1992Fabry Disease: An Unusual Cause of Severe Coronary Disease in a Young ManEdward A. Fisher, MD, Robert J. Desnick, PhD, MD, Ronald E. Gordon, PhD, Christine M. Eng, MD, Randall Griepp, MD, Martin E. Goldman, MDEdward A. Fisher, MD, Robert J. Desnick, PhD, MD, Ronald E. Gordon, PhD, Christine M. Eng, MD, Randall Griepp, MD, Martin E. Goldman, MDAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-117-3-221 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptThe 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 ReportOur 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...References1. DesnickBishop RD. Fabry disease: α-galactosidase deficiency and Schindler disease: alpha-N-Acetylgalactosaminidase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. .The Metabolic Basis of Inherited Disease. New York:McGraw Hill; 1989:1751-96. Google Scholar2. DesnickBliedenSharpHofschireMoller RLHPJ. Cardiac valvular anomalies in Fabry disease: Clinical morphologic and biochemical studies. Circulation. 1976;54:818-24. CrossrefMedlineGoogle Scholar3. Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 2-1984. A 47 year-old man with coronary artery disease and variable neurologic abnormalities. N Engl J Med. 1984;310:106-14. CrossrefMedlineGoogle Scholar4. FerransHibbsBurda VRC. The heart in Fabry's Disease. A histochemical and electron microscopic study. Am J Cardiol. 1969; 24:95-110. CrossrefMedlineGoogle Scholar5. GoldmanCantorSchwartzBakerDesnick MRMMR. Echocardiographic abnormalities and disease severity in Fabry's disease. J Am Coll Cardiol. 1986;7:1157-61. CrossrefMedlineGoogle Scholar6. MossardJessotWolfeBatzenschlagerStoebnerMetzger JGLAPH. The heart in Fabry's disease. Arch Mal Couer Vaisse. 1972;65:495-500. MedlineGoogle Scholar7. BeckerSchoorlBalkven der Heide ARAR. Cardiac manifestations of Fabry disease. Report of a case with mitral insufficiency and electrocardiographic evidence of myocardial infarction. Am J Cardiol. 1975;36:829-35. CrossrefMedlineGoogle Scholar8. von ScheidtEngFitzmauriceErdmannHubnerOlsen WCTEGE. An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med. 1991;324:395-9. CrossrefMedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: From the Mount Sinai Medical Center, New York, New York. For current author addresses, see end of text. 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