| Plasma non-cholesterol sterols: a useful diagnostic tool in pediatric hypercholesterolemia. | |
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MedLine Citation:
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PMID: 20091938 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Current guidelines strongly recommend the identification of genetic forms of hypercholesterolemia (HC) during childhood.The usefulness of non-cholesterol sterols (NCS) in the diagnosis of genetic HC has not been fully explored. Plasma NCS were measured by gas chromatography/mass spectrometry (GC/MS) in 113 children with hypercholesterolemia affected by: autosomal dominant hypercholesterolemia (ADH), familial combined hyperlipidemia(FCHL), polygenic hypercholesterolemia (PHC), and in 79 controls to evaluate: i) plasma NCS profile in different genetic HC and ii) the usefulness of NCS for the diagnosis of HC beyond current clinical criteria. ADH was characterized by raised lathosterol/total cholesterol (TC) and reduced phytosterols/TC ratios, indicative of increased cholesterol synthesis. FCHL showed a slight increase of lathosterol/TC ratio, whereas PHC showed increased phytosterols/TC ratios, indicative of increased cholesterol absorption. In a post hoc discriminant analysis of patients with HC, lipid values correctly classified the 73% (14 of 19) of ADH, whereas the inclusion of plasma sterols allowed the correct identification of all 19 patients with ADH. FCHL was not differentiated from PHC (62 versus 69%).In conclusion, NCS measurement showed that cholesterol plasma levels are related to the cholesterol synthesis in ADH and to cholesterol absorption in PHC. NCS improve the detection of ADH in pediatric patients, whereas FCHL diagnosis is not improved. |
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Authors:
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Davide Noto; Angelo B Cefal?; Giacoma Barraco; Eliana Martino; Francesca Fayer; Mariangela Min?; Anna Montali; Marcello Arca; Maurizio Averna; Francesco Martino |
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Publication Detail:
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Type: Journal Article; Multicenter Study |
Journal Detail:
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Title: Pediatric research Volume: 67 ISSN: 1530-0447 ISO Abbreviation: Pediatr. Res. Publication Date: 2010 Feb |
Date Detail:
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Created Date: 2010-01-20 Completed Date: 2010-02-22 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0100714 Medline TA: Pediatr Res Country: United States |
Other Details:
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Languages: eng Pagination: 200-4 Citation Subset: IM |
Affiliation:
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Department of Clinical Medicine and Emerging Diseases, University of Palermo, Palermo I90127, Italy. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Biological Markers / blood Case-Control Studies Child Cholesterol / analogs & derivatives, blood Discriminant Analysis Female Gas Chromatography-Mass Spectrometry Genetic Predisposition to Disease Humans Hyperlipidemia, Familial Combined / blood, diagnosis*, genetics Hyperlipoproteinemia Type II / blood, diagnosis*, genetics Italy Male Multifactorial Inheritance Phytosterols / blood Predictive Value of Tests Sitosterols / blood Sterols / blood* |
| Chemical | |
Reg. No./Substance:
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0/Biological Markers; 0/Phytosterols; 0/Sitosterols; 0/Sterols; 474-62-4/campesterol; 57-88-5/Cholesterol; 5779-62-4/sitosterol; 80-99-9/lathosterol |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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