doi: 10.1161/CIRCULATIONAHA.105.588400
(Circulation. 2006;113:e777.)
© 2006 American Heart Association, Inc.
Images in Cardiovascular Medicine |
Untreated 37-Year-Old Homozygous Familial Hypercholesterolemic Smoker
From the Departments of Medicine (S.L.A., G.A.F., I.P.) and Biochemistry (G.A.F.), University of Alberta, Edmonton, Canada.
Correspondence to Stephen L. Archer, MD, Department of Medicine, University of Alberta, WMC 2C2.36, 8440 112th St, Edmonton, Alberta, Canada, T6G 2B7 (e-mail sarcher{at}cha.ab.ca), or Gordon A. Francis, MD, Departments of Medicine and Biochemistry, 328 HMRC, University of Alberta, Edmonton, AB T6G 2S2, Canada (e-mail gordon.francis@ualberta.ca).
A 37-year-old Iraqi immigrant with long-standing cutaneous elbow and knee xanthomas and thickened Achilles tendons but no corneal arcus or xanthelasma presented with worsening angina pectoris (Figure). The absence of eye findings is remarkable and points out the phenotypic heterogeneity of patients with homozygous familial hypercholesterolemia.1 The patient had smoked a package of cigarettes daily for 20 years and had declined cholesterol-lowering therapy. His total cholesterol was 687 mg/dL (17.9 mmol/L); LDL cholesterol was 575 mg/dL (15.0 mmol/L); HDL cholesterol was 55 mg/dL (1.4 mmol/L); and triglyceride level was 285 mg/dL (3.2 mmol/L). After a positive nuclear perfusion stress test, he underwent coronary angiography, which revealed left main coronary stenosis with occluded left anterior descending and circumflex coronary arteries. The left anterior descending coronary artery was collateralized from a severely diseased right coronary artery. He underwent successful coronary artery bypass grafting, has quit smoking, and is taking lipid-lowering medication while awaiting initiation of LDL apheresis.
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Acknowledgments |
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Dr Archer is a Canada Research Chair in Oxygen Sensing and Translational Cardiovascular Research and Heart and Stroke Chair in Cardiovascular Research. Dr Francis is a Senior Scholar of the Alberta Heritage Foundation for Medical Research.
Sources of Funding
Dr Archer is supported by the Canadian Institutes of Health Research and NIH-RO1-HL071115.
Disclosures
None.
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Reference |
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 Top Reference |
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- Francis GA, Johnson RL, Findlay JM, Wang J, Hegele RA. Cerebral cholesterol granuloma in homozygous familial hypercholesterolemia. CMAJ. 2005; 172: 495–497.
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Circulation 2006 113: 2473.[Full Text]
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