Title: Hypercholesterolemia familiaris in childhood
- Jolanta Kubalska
- Contemporary Pediatrics, Gastroenterology, Hepatology and Child Feeding
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- hypercholesterolemia familiaris, etiology, diet, therapy
Familial hypercholesterolaemia (FH) is an autosomal dominant disorder caused by a mutation in the low-density lipoprotein LDL-receptor gene, or apolipoprotein B-1OO. The clinical picture in children is charac-terised by a two- to six-fold increase in cholesterol and lipoprotein LDL, cutaneous xanthomatas, corneal arcus, premature coronary artery disease, and sudden death. The purpose of this study is to present the causes of FH in children, the clinical picture, and treatment.