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. (Pediatr Res 67: 200-204, 2010)

Plasma non-cholesterol sterols: a useful diagnostic tool in pediatric hypercholesterolemia / Davide, Noto; Angelo B., Cefalu; Giacoma, Barraco; Eliana, Martino; Francesca, Fayer; M., Mina'; Montali, Anna; Arca, Marcello; Maurizio, Averna; Martino, Francesco. - In: PEDIATRIC RESEARCH. - ISSN 0031-3998. - 67:2(2010), pp. 200-204. [10.1203/pdr.0b013e3181c8f035]

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

MONTALI, Anna;ARCA, Marcello;MARTINO, Francesco
2010

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. (Pediatr Res 67: 200-204, 2010)
2010
01 Pubblicazione su rivista::01a Articolo in rivista
Plasma non-cholesterol sterols: a useful diagnostic tool in pediatric hypercholesterolemia / Davide, Noto; Angelo B., Cefalu; Giacoma, Barraco; Eliana, Martino; Francesca, Fayer; M., Mina'; Montali, Anna; Arca, Marcello; Maurizio, Averna; Martino, Francesco. - In: PEDIATRIC RESEARCH. - ISSN 0031-3998. - 67:2(2010), pp. 200-204. [10.1203/pdr.0b013e3181c8f035]
File allegati a questo prodotto
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/229882
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo

Citazioni
  • ???jsp.display-item.citation.pmc??? 4
  • Scopus 15
  • ???jsp.display-item.citation.isi??? 13
social impact