Key result
A 5-year-old boy with homozygous familial hypercholesterolemia presented with jaundice since birth, extensive xanthomas, total cholesterol of 590 mg/dl, and mild aortic stenosis.
Case Report (n=1)
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This case highlights the severe and early clinical manifestations of homozygous familial hypercholesterolemia, including premature atherosclerosis leading to aortic stenosis in early childhood.
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.
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Prasad et al. (2004) conducted a case report in Familial hypercholesterolemia (n=1). A 5-year-old boy with homozygous familial hypercholesterolemia presented with jaundice since birth, extensive xanthomas, total cholesterol of 590 mg/dl, and mild aortic stenosis.
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