ABSTRACT
The index patient (II,2 on Figure 1A, marked with an arrow), developed angina aged 39 years; his cholesterol was 13.9 mmol/l and premature corneal arcus, very large tendon xanthomata on the dorsum of his hands and Achilles’ tendons, and pretibial tuberositas were noted.Two brothers and his father had died of myocardial infarction aged 32 to 62 years. Coronary artery bypass graft (CABG) operation was performed when he was aged 42 and treatment with colestipol was initiated with poor response. In 1985, at the age of 51, he was referred to the Lipid Clinic at Hammersmith Hospital with hypercholesterolemia that was unresponsive to treatment with maximal doses of currently available lipidlowering drugs (Figure 1B). On a combination of colestipol 30 g/day, bezafibrate 600 mg/day, and nicotinic acid 3 g daily, his fasting total cholesterol was 19.2 mmol/l and triglyceride 3.8 mmol/l, and these levels remained exceptionally high until the introduction of potent statins. During the subsequent 19 years maximal doses of statins in combination with bile acid sequestrants and lately with ezetimibe led to a better control of serum cholesterol and to a decrease in size of his tendon xanthomata; fasting serum triglyceride ranged between 1.5 and 4.72 mmol/l and HDL-cholesterol between 0.7 and 1.1 mmol/l. It is of interest that the patient now follows an exceptionally strict low cholesterol, low-fat diet. He underwent re-do CABG operation in 1994 and has mild peripheral vascular disease and asymptomatic carotid disease. At present the patient remains well with stable angina.
