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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Phytosterolemia in children with parenteral nutrition-associated cholestatic liver disease.

BACKGROUND: Lipid emulsions used for parenteral nutrition (PN) contain phytosterols. Our hypothesis was that these phytosterols can accumulate and contribute to cholestatic liver disease and other complications of PN, e.g., thrombocytopenia (which occurs in hereditary phytosterolemia). METHODS: Using gas chromatography-mass spectrometry, plasma concentrations of sterols were measured in 29 children aged 2 months to 9 years receiving PN and in 29 age-matched controls. The children receiving PN fell into two subgroups: 5 with severe PN-associated cholestatic liver disease (bilirubin level, > 100 mumol/L; aspartate aminotransferase [AST] level, > 200 U/L) and 24 with a bilirubin level of < 100 mumol/L and/or AST level of < 200 U/L. RESULTS: The 5 children with severe PN-associated liver disease had plasma concentrations of phytosterols and sitostanol that were as high as those seen in patients with hereditary phytosterolemia (total phytosterols 1.3-1.8 mmol/L). All 5 had intermittent thrombocytopenia. A reduction in intake of lipid emulsion to < 50 was associated with a decrease in plasma phytosterol concentrations and an improvement in liver function tests and platelet counts in two patients. Children with less severe PN-associated liver disease had lower plasma phytosterol concentrations than the 5 with severe disease. CONCLUSIONS: Children receiving PN who have high plasma phytosterol concentrations also have cholestatic liver disease and thrombocytopenia; phytosterolemia might contribute to the pathogenesis of complications of PN.[1]


  1. Phytosterolemia in children with parenteral nutrition-associated cholestatic liver disease. Clayton, P.T., Bowron, A., Mills, K.A., Massoud, A., Casteels, M., Milla, P.J. Gastroenterology (1993) [Pubmed]
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