Homozygous familial hypercholesterolemia with generalized arterial disease

ABSTRACT

This report describes the clinical features and management of an 11-year-old boy with end-stage homozygous familial hypercholesterolemia [hoFH] and generalized arterial disease. The patient presented with recurrent anginal episodes. On examination, he was found to have multiple planar and tendinous xanthomas, an [LDL] cholesterol level of 24.6 mmol/l and family history of hypercholesterolemia. Resting electrocardiogram showed ST depression in the anterior and inferior leads. Coronary angiogram outlined 70% stenosis of the left main coronary, ostial stenosis of the right coronary artery and extensive atherosclerotic disease of the aorta and all its major branches. The lipid profile was grossly abnormal, but the other biochemical and hematological parameters were normal. The patient was managed with metoprolol 12.5 mg twice daily, nitroglycerin infusion, antithrombotics [aspirin 75 mg once daily and heparin infusion 150 units per hour], cholesterol-lowering drugs [simvastatin 10 mg once a day, cholestyramine 4 g twice a day] and analgesics. This case report emphasizes the need to diagnose early familial hypercholesterolemia in families with heart disease and the need to test the partners of affected persons so that the risk of conceiving children with hoFH can be counseled