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RESEARCH PRODUCT
Plasma non-cholesterol sterols: a useful diagnostic tool in pediatric hypercholesterolemia.
Marcello ArcaMarcello ArcaFrancesca FayerMariangela MinaAngelo B. CefalùMaurizio AvernaFrancesco MartinoDavide NotoAnna MontaliEliana MartinoGiacoma Barracosubject
Cholesterol synthesisMalemedicine.medical_specialtyMultifactorial InheritanceSettore MED/09 - Medicina InternaAdolescentHyperlipidemia Familial CombinedLathosterolIncreased Cholesterol Synthesisbehavioral disciplines and activitiesGas Chromatography-Mass SpectrometryHyperlipoproteinemia Type IIchemistry.chemical_compoundPredictive Value of TestsInternal medicineBlood plasmaMedicineHumansGenetic Predisposition to DiseaseChildhypercholesterolemiabusiness.industryCholesterolDiscriminant AnalysisPhytosterolsSitosterolsSterolFamilial combined hyperlipidemiaSterolsEndocrinologypediatricCholesterolchemistryItalyCase-Control StudiesPediatrics Perinatology and Child Healthlipids (amino acids peptides and proteins)FemalebusinessBiomarkersLipoproteindescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2010-01-01 | Pediatric research |