The correlation between familial hypobetalipoproteinemia (FHBL) and fatty liver was previously reported, but only recently, since the apolipoprotein B (apoB) gene mutation detection, a relationship has been demonstrated. FHBL is underdiagnosed because oligosymptomatic. Symptoms are ataxia, visual impairment, intestinal disorders. AIM of this study is represented by the analysis of FHBL affected patients, to detect liver involvment and to correlate the clinical picture with biochemical and molecular analysis. METHODS: Thirteen hypocholesterolemic patients were analysed. The lipoprotein profile was examined by ultracentrifugation. The apoB size was tested by western blot analysis. The apoB gene was sequenced using the Sequencing System. Echotomography and liver biopsy were employed to detect the steatosis. RESULTS: Eight/ thirteen tested subjects resulted affected by FHBL and five of them presented liver steatosis. The diagnosis was based on lipoprotein profile, truncated apoB size, gene analysis. Two new truncated proteins, called apoB 28,8 and apoB 36, were detected. The former is due to a nonsense mutation Arg1306Stop. Two kindreds showed patients affected by hepatocarcinoma. CONCLUSIONS: Fatty liver is the main feature in the present cohort and a transport lipid defect can be postulated. So far is considered safe to submit to liver echotomography all FHBL patients. In particular, those who carry a mutation which generates a shorter than apo48 protein could present more important fatty liver involvment, as here demonstrated. The relationship with hepatocarcinoma represents a further hot topic to be investigated.

Liver steatosis and familial hypobetalipoproteinemia due to new apolipoprotein B truncated proteins

GUARDAMAGNA, Ornella;
2003-01-01

Abstract

The correlation between familial hypobetalipoproteinemia (FHBL) and fatty liver was previously reported, but only recently, since the apolipoprotein B (apoB) gene mutation detection, a relationship has been demonstrated. FHBL is underdiagnosed because oligosymptomatic. Symptoms are ataxia, visual impairment, intestinal disorders. AIM of this study is represented by the analysis of FHBL affected patients, to detect liver involvment and to correlate the clinical picture with biochemical and molecular analysis. METHODS: Thirteen hypocholesterolemic patients were analysed. The lipoprotein profile was examined by ultracentrifugation. The apoB size was tested by western blot analysis. The apoB gene was sequenced using the Sequencing System. Echotomography and liver biopsy were employed to detect the steatosis. RESULTS: Eight/ thirteen tested subjects resulted affected by FHBL and five of them presented liver steatosis. The diagnosis was based on lipoprotein profile, truncated apoB size, gene analysis. Two new truncated proteins, called apoB 28,8 and apoB 36, were detected. The former is due to a nonsense mutation Arg1306Stop. Two kindreds showed patients affected by hepatocarcinoma. CONCLUSIONS: Fatty liver is the main feature in the present cohort and a transport lipid defect can be postulated. So far is considered safe to submit to liver echotomography all FHBL patients. In particular, those who carry a mutation which generates a shorter than apo48 protein could present more important fatty liver involvment, as here demonstrated. The relationship with hepatocarcinoma represents a further hot topic to be investigated.
2003
Annual Meeting European Association Study of Liver
Ginevra
3-6 luglio 2003
38
213
213
GUT
liver steatosis; fat transport; apoB gene mutation
Molini V; Bonardi R; Tarugi P; Cefalu AR; Guardamagna O; Rabbone I;
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/125617
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