Untreated 37-Year-Old Homozygous Familial Hypercholesterolemic Smoker
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.
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.