Premium
Familial hypercholesterolemia (Type IIb) in a child: a case report with interesting features
Author(s) -
Prasad P. V. S.,
Chidambaram N.
Publication year - 2004
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/j.1365-4632.2004.01457.x
Subject(s) - medicine , familial hypercholesterolemia , pediatrics , dermatology , cholesterol
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.