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Articles

Title: Hypercholesterolemia familiaris in childhood

Author:
Jolanta Kubalska
Language:
PL
Journal:
Contemporary Pediatrics, Gastroenterology, Hepatology and Child Feeding
Year:
1999
Volume:
1
Number:
2-3
Start page:
129
Final page:
132
ISSN:
1507-5532
Keywords:
hypercholesterolemia familiaris, etiology, diet, therapy
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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.