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.
Prasad
P V S
PV
Department of Dermatology, Rajah Muthiah Medical College and Hospital, Annamalai University, No. 88 Auta Nagar, Sivapuri-post, Annamalainagar-608 002, India.
Chidambaram
N
N
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