Fatty liver in familial hypobetalipoproteinemia

Gustav Schonfeld, Bruce W. Patterson, Dmitriy A. Yablonskiy, Tariq S. K. Tanoli, Maurizio Averna, Nizar Elias, Pin Yue, Joseph Ackerman
2002 Journal of Lipid Research  
Familial hypobetalipoproteinemia (FHBL) subjects may develop fatty liver. Liver fat was assessed in 21 FHBL with six different apolipoprotein B (apoB) truncations (apoB-4 to apoB-89) and 14 controls by magnetic resonance spectroscopy (MRS). Liver fat percentages were 16.7 ؎ 11.5 and 3.3 ؎ 2.9 (mean ؎ SD) ( P ‫؍‬ 0.001). Liver fat percentage was positively correlated with body mass index, waist circumference, and areas under the insulin curves of 2 h glucose tolerance tests, suggesting that
more » ... ty may affect the severity of liver fat accumulation in both groups. Despite 5-fold differences in liver fat percentage, mean values for obesity and insulin indexes were similar. Thus, for similar degrees of obesity, FHBL subjects have more hepatic fat. VLDL-triglyceride (TG)-fatty acids arise from plasma and nonplasma sources (liver and splanchnic tissues). To assess the relative contributions of each, [ 2 H 2 ]palmitate was infused over 12 h in 13 FHBL subjects and 11 controls. Isotopic enrichment of plasma free palmitate and VLDL-TGpalmitate was determined by mass spectrometry. Nonplasma sources contributed 51 ؎ 15% in FHBL and 37 ؎ 13% in controls ( P ‫؍‬ 0.02). Correlations of liver fat percentage and percent VLDL-TG-palmitate from liver were r ‫؍‬ 0.89 ( P ‫؍‬ 0.0001) for FHBL subjects and r ‫؍‬ 0.69 ( P ‫؍‬ 0.01) for controls. Thus, apoB truncation-producing mutations result in fatty liver and in altered assembly of VLDLliver in familial hypobetalipoproteinemia: triglyceride assembly into VLDL particles is affected by the extent of hepatic steatosis. J. Lipid Res. 2003. 44: 470-478. Supplementary key words nonalcoholic fatty liver • nonesterified fatty acids • very low density lipoprotein assembly • magnetic resonence spectroscopy
doi:10.1194/jlr.m200342-jlr200 pmid:12562873 fatcat:rcvj5rin4rg4zot5mt3uxilpey