title: Fatty liver--based identification of two distinct hypertriglyceridemic subgroups in familial combined hyperlipidemia.
abstract: The present study was conducted to investigate whether the fatty liver phenotype could be helpful in the identification of subgroups with distinct metabolic properties and lipid profiles within familial combined hyperlipidemia (FCHL). One hundred eighty-five FCHL family members participated in the current study; 38 subjects were found to be hypertriglyceridemic, of whom 66% showed evidence of fatty liver as measured with ultrasound. A detailed comparison between the hypertriglyceridemic FCHL subjects with (n = 25) and without (n = 13) fatty liver revealed that, despite very similar plasma triglyceride levels (3.5 vs 3.2 mmol/L in subjects with and without fatty liver, respectively), the fatty liver subgroup presented with significantly higher body mass index, visceral adipose tissue (ultrasound), insulin, and alanine aminotransferase levels. Moreover, very low-density lipoprotein (VLDL) subclass analysis showed that the VLDL2 fraction of the fatty liver subgroup contained significantly less cholesterol and triglycerides (P = .02 for both parameters), which was likely explained by a decreased VLDL2 particle number because VLDL2 apolipoprotein B levels tended to be lower (P = .08). These data indicate that hypertriglyceridemic FCHL subjects may belong to metabolically distinct subgroups and suggest that a refinement of the hypertriglyceridemic FCHL phenotype by adding information on fatty liver will eventually facilitate the elucidation of its complex genetic background.
authors: Laboratory of Molecular Metabolism and Endocrinology, Department of Medicine, University Hospital Maastricht, PO Box 616, 6200 MD Maastricht, The Netherlands. martijn.brouwers@intmed.unimaas.nl
authors: Martijn C G J
authors: MC
authors: Brouwers
authors: Marleen M J
authors: MM
authors: van Greevenbroek
authors: Monique A L
authors: MA
authors: Bilderbeek-Beckers
authors: Margee G
authors: MG
authors: Robertus-Teunissen
authors: Carla J H
authors: CJ
authors: van der Kallen
authors: Coen D A
authors: CD
authors: Stehouwer
authors: Tjerk W A
authors: TW
authors: de Bruin
mesh_terms: D000273:Adipose Tissue / Q000000981:diagnostic imaging; D000410:Alanine Transaminase / Q000097:blood; D000886:Anthropometry; D015992:Body Mass Index; D005234:Fatty Liver / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D006801:Humans; D006950:Hyperlipidemia, Familial Combined / Q000000981:diagnostic imaging / Q000235:genetics*; D015228:Hypertriglyceridemia / Q000000981:diagnostic imaging / Q000235:genetics*; D008079:Lipoproteins, VLDL / Q000096:biosynthesis / Q000097:blood; D008099:Liver / Q000000981:diagnostic imaging; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011153:Population; D014463:Ultrasonography
chemical_list: D008079:Lipoproteins, VLDL; D000410:Alanine Transaminase