Familial hypercholesterolemia (Type IIb) in a child: a case report with interesting features

Familial hypercholesterolemia (FH) is the most commonly recognized disorder of lipoprotein metabolism in childhood. We report a case of FH in a 5-year-old boy with onset of jaundice since birth, and multiple planar, tuberous, palmar and intertrigenous xanthomas covering the trunk and limbs. His total cholesterol was 590 mg/dl and triglycerides were 171 mg/dl. Echocardiography revealed mild aortic stenosis as a result of premature atherosclerosis. He was diagnosed with homozygous FH, and is reported here because of the interesting clinical features.