Early Atherosclerosis in Children in Familial Hypercholesterolemia : A 2 Case Report

Abstract

Familial hypercholesterolemia (FH) is inherited as an autosomal dominant. It is an important clinical condition leading to hypertension, atherosclerosis, and premature coronary artery disease. Atherosclerosis is rarely reported in children. We report here 2 children with familial hypercholesterolemia and early atherosclerosis. The first case is a 4 year-old Thai boy who presented with yellowish papules in the skin creases which had been present for 2 years. His grandfather and father had been diagnosed with diabetes mellitus and hypercholesterolemia, respectively. Physical examination revealed his weight for height to be 125% and planar xanthomas. The remaining examination was unremarkable. Plasma lipid profiles showed a total cholesterol level of 674 mg/dl, a triglyceride level of 261 mg/dl, a high-density lipoprotein cholesterol (HDL-C) level of 39 mg/dl, and a low-density lipoprotein cholesterol (LDL-C) level of 583 mg/dl. The results of a carotid duplex scan showed atherosclerotic plaques in both carotid arteries.

The second case is a 10 year-old Thai boy who had no symptoms, but his mother and uncle had been diagnosed with coronary heart disease and diabetes mellitus, respectively. Physical examination revealed a weight for height of 112%, but the remaining examination was unremarkable. Plasma lipid profiles showed a total cholesterol level of 328 mg/dl, a triglyceride level of 59 mg/dl, and HDL-C level of 54 mg/dl, and an LDL-C level of 262 mg/dl. A carotid duplex scan showed atherosclerotic plaques in both carotid arteries. Atherosclerosis is rarely reported in children and it usually correlates with ischemic heart disease. The finding of atherosclerotic plaques in the large arteries may reflect deposition of atheroma in their coronary arteries. We suggest that this investigation is an important procedure in the screening of early atherosclerosis in order to primarily and secondarily prevent premature coronary artery disease.