Familial hypercholesterolaemia with severe cardiac involvement in a boy: successful management and mid-term follow-up

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Abstract
A 13-year-old boy with double heterozygosity for familial hypercholesterolaemia with a 90% left coronary artery main stem stenosis is reported. The patient's cholesterol levels were effectively controlled with weekly sessions of selective low-density lipoprotein cholesterol removal through immunoadsorption by use of an extracorporeal system. Left main coronary artery stenosis was successfully treated with percutaneous transluminal balloon dilation. At 30 months after the intervention and still under treatment with weekly sessions of low-density lipoprotein apheresis the patient is free of cardiac symptoms. He shows normal exercise capacity and normal myocardial perfusion. It is concluded that aggressive management is justified in such patients and may result in a near-normal quality of life.

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