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.
Department of Dermatology, Rajah Muthiah Medical College and Hospital, Annamalai University, No. 88 Auta Nagar, Sivapuri-post, Annamalainagar-608 002, India.
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PV
Prasad
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N
Chidambaram
D002648:Child; D003937:Diagnosis, Differential; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D007565:Jaundice / Q000209:etiology* / Q000473:pathology; D008297:Male; D010375:Pedigree; D012871:Skin Diseases / Q000209:etiology* / Q000473:pathology; D014973:Xanthomatosis / Q000209:etiology* / Q000473:pathology