Plasma non-cholesterol sterols: a useful diagnostic tool in pediatric hypercholesterolemia.

Angelo Baldassare Cefalu', Maurizio Averna, Anna Montali, Maurizio Averna, Francesco Martino, Eliana Martino, Davide Noto, Francesca Fayer, Giacoma Barraco, Mariangela Mina'

Risultato della ricerca: Article

11 Citazioni (Scopus)

Abstract

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.
Lingua originaleEnglish
pagine (da-a)200-204
Numero di pagine5
RivistaDefault journal
Volume67
Stato di pubblicazionePublished - 2010

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Sterols
Hypercholesterolemia
Hyperlipoproteinemia Type II
Pediatrics
Cholesterol
Familial Combined Hyperlipidemia
Phytosterols
Discriminant Analysis
Gas Chromatography-Mass Spectrometry
Guidelines
Lipids

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cita questo

Cefalu', A. B., Averna, M., Montali, A., Averna, M., Martino, F., Martino, E., ... Mina', M. (2010). Plasma non-cholesterol sterols: a useful diagnostic tool in pediatric hypercholesterolemia. Default journal, 67, 200-204.

Plasma non-cholesterol sterols: a useful diagnostic tool in pediatric hypercholesterolemia. / Cefalu', Angelo Baldassare; Averna, Maurizio; Montali, Anna; Averna, Maurizio; Martino, Francesco; Martino, Eliana; Noto, Davide; Fayer, Francesca; Barraco, Giacoma; Mina', Mariangela.

In: Default journal, Vol. 67, 2010, pag. 200-204.

Risultato della ricerca: Article

Cefalu', AB, Averna, M, Montali, A, Averna, M, Martino, F, Martino, E, Noto, D, Fayer, F, Barraco, G & Mina', M 2010, 'Plasma non-cholesterol sterols: a useful diagnostic tool in pediatric hypercholesterolemia.', Default journal, vol. 67, pagg. 200-204.
Cefalu', Angelo Baldassare ; Averna, Maurizio ; Montali, Anna ; Averna, Maurizio ; Martino, Francesco ; Martino, Eliana ; Noto, Davide ; Fayer, Francesca ; Barraco, Giacoma ; Mina', Mariangela. / Plasma non-cholesterol sterols: a useful diagnostic tool in pediatric hypercholesterolemia. In: Default journal. 2010 ; Vol. 67. pagg. 200-204.
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abstract = "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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AU - Cefalu', Angelo Baldassare

AU - Averna, Maurizio

AU - Montali, Anna

AU - Averna, Maurizio

AU - Martino, Francesco

AU - Martino, Eliana

AU - Noto, Davide

AU - Fayer, Francesca

AU - Barraco, Giacoma

AU - Mina', Mariangela

PY - 2010

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N2 - 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.

AB - 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.

KW - hypercholesterolemia

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UR - http://hdl.handle.net/10447/52115

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