ABSTRACT
Homozygous familial hypercholesterolemia (FH) is a rare disorder occurring in one of every one million persons. In untreated affected individuals, death most commonly occurs in the second decade of life and is usually the consequence of severe atherosclerosis, affecting particularly the coronary arteries. In young individuals with such elevated serum total and LDL-cholesterol levels, the atherosclerotic plaques might be expected to consist predominately of lipid material. This report describes quantitatively the composition of atherosclerotic plaques in each 5 mm-long segment of each of the four major epicardial coronary arteries in a young man with homozygous FH and fatal coronary artery disease. During his second decade his serum total cholesterol levels were usually >700 mg/dl. Each of the four major (right, left main, left anterior descending, and left circumflex) coronary arteries were excised intact from the heart, decalcified, and sectioned into 5 mm-long segments. Briefly, a drawing of each section of coronary artery was made using a projection microscope.
