INTRODUCTION: The familial hypobetalipoproteinemia (FHBL) is an inborn error of lipid metabolism. The main biochemical features are reduced LDL cholesterol and apoprotein B levels. Its prevalence is 1:500/1000 and the diagnosis is supposed to be underestimated because it is a paucisymptomatic defect. AIMS & METHODS: Aim of the study is to detect patients affected by FCBL and to correlate their genotype/phenotype expression. Methods: 38 subjects from 8 kindreds presenting with primary hypocholesterolemia were submitted to lipoprotein analysis, density and gradient ultracentrifugation to separate different fractions, Western Blot to test the apoprotein size and apoB gene sequencing, to detect the mutation (Sequencing System). RESULTS: 16/38 patients resulted affected by primary hypobetalipoproteinemia and in 3/8 kindreds 8 cases) the final diagnosis was FHBL, established on the basis of dominant inheritance, biochemical pattern and molecular analysis. 8 patients were children (mean age 13,1 yrs). 3/8 kindreds (4 cases) presented with feeding disorders, 1/8 (1 case) with mental retardation and 7/8 (10 cases, including 2 children) with steatosis and transaminases increased levels. Furthermore irritable bowel and diarrhoea were recurrent symptoms. Three different apo B size were detected and resulted 28.7, 32.4, 39.6 KD and apo B gene mutations resulted respectively in 2-14 base deletions originating stop codons at positions 1306, 1470 and 1773. The latter mutation was never reported before. CONCLUSION: : The main recurrent sign related to FHBL, as well in the other kindreds here described and still under analysis, is steatosis and/or steatohepatitis. This condition is an hot topic because the postulated progression to cirrosis and HCC is unknown. Moreover the supposed correlation of the irritable bowel and/or diarrhoea, as well as the steatosis, with a lipid transport defect requires additional studies. This could contribute to define the pathophysiological basis of the disease
The impact of familial hypobetalipoproteinemia in liver steatosis
GUARDAMAGNA, Ornella
2003-01-01
Abstract
INTRODUCTION: The familial hypobetalipoproteinemia (FHBL) is an inborn error of lipid metabolism. The main biochemical features are reduced LDL cholesterol and apoprotein B levels. Its prevalence is 1:500/1000 and the diagnosis is supposed to be underestimated because it is a paucisymptomatic defect. AIMS & METHODS: Aim of the study is to detect patients affected by FCBL and to correlate their genotype/phenotype expression. Methods: 38 subjects from 8 kindreds presenting with primary hypocholesterolemia were submitted to lipoprotein analysis, density and gradient ultracentrifugation to separate different fractions, Western Blot to test the apoprotein size and apoB gene sequencing, to detect the mutation (Sequencing System). RESULTS: 16/38 patients resulted affected by primary hypobetalipoproteinemia and in 3/8 kindreds 8 cases) the final diagnosis was FHBL, established on the basis of dominant inheritance, biochemical pattern and molecular analysis. 8 patients were children (mean age 13,1 yrs). 3/8 kindreds (4 cases) presented with feeding disorders, 1/8 (1 case) with mental retardation and 7/8 (10 cases, including 2 children) with steatosis and transaminases increased levels. Furthermore irritable bowel and diarrhoea were recurrent symptoms. Three different apo B size were detected and resulted 28.7, 32.4, 39.6 KD and apo B gene mutations resulted respectively in 2-14 base deletions originating stop codons at positions 1306, 1470 and 1773. The latter mutation was never reported before. CONCLUSION: : The main recurrent sign related to FHBL, as well in the other kindreds here described and still under analysis, is steatosis and/or steatohepatitis. This condition is an hot topic because the postulated progression to cirrosis and HCC is unknown. Moreover the supposed correlation of the irritable bowel and/or diarrhoea, as well as the steatosis, with a lipid transport defect requires additional studies. This could contribute to define the pathophysiological basis of the disease
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