Familial hypercholesterolemia: A case report

Familial hypercholesterolemia (FH) is a hereditary dislipidemia. Patients present with extremely high level of low-density lipoprotein cholesterol (LDL-C), which is due to mutation in the gene of LDL receptor. Homozygous patients (HoFH) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. In homozygous individuals cardiovascular complications can occur in childhood. The current study presented a 12-year-old boy with HoFH who suffered from mild aortic stenosis, and right coronary artery atherosclerosis. The patient underwent a successful coronary artery stenting, and was discharged with pharmacologic therapy.