PL EN


Preferences help
enabled [disable] Abstract
Number of results
2008 | 49 | 1 | 109-113
Article title

Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutationsin the LDLR gene

Title variants
Languages of publication
EN
Abstracts
EN
Natural history of the disease in 4 unrelated Polish children with homozygous familial hypercholesterolemia (FH) is described. Their phenotypic homozygosity was established by identification of known LDLR gene mutations on both alleles, respectively: p.G592E & p.G592E in Patient 1; p.G592E & p.C667Y in Patient 2; p.S177L & p.R350X in Patient 3; and p.G592E & deletion in the promoter region, exons 1 and 2 in Patient 4. Heterozygosity of the mutations was revealed in all patients' mothers and fathers (obligatory heterozygotes) and in 1 out of 4 siblings studied. FH was diagnosed at the age of 4 months to 9 years by cholesterol screening among family members of patients with early cardiovascular disease episodes. At the time of FH detection, the children were asymptomatic. Only in 2, some skin eruptions were found. Antihyperlipidemic therapy was started, including a lipid-lowering diet, cholestyramine, and HMG-CoA inhibitors if necessary. No cardiovascular symptoms appeared during the observation up to the age of 18, 20, 19, and 17 years, respectively. An increase in external carotid artery diameter was found in a patient at the age of 9 years, and LDL-apheresis was introduced in his therapy. We conclude that the analysis of LDLR gene mutations in the studied FH children made it possible to identify 4 presymptomatic FH homozygotes and to introduce early appropriate treatment. Multicenter analysis of such persons would finally determine if the early lipid-lowering procedures can significantly reduce the risk of premature cardiovascular disease in homozygous FH.
Discipline
Publisher

Year
Volume
49
Issue
1
Pages
109-113
Physical description
Contributors
author
author
author
author
author
author
author
author
author
author
References
Document Type
ARTICLE
Publication order reference
E. Pronicka, Department of Metabolic Diseases, Endocrinology and Diabetology Children?s Memorial Health Institute, Al. Dzieci Polskich 20, 04?730 Warszawa, Poland
Identifiers
YADDA identifier
bwmeta1.element.element-from-psjc-ad13a0de-28f1-3100-a35d-4c75aca177ea
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.