Cryptogenic cirrhosis in a patient with familial hypocholesterolemia due to a new truncated form of apolipoprotein B

European Journal of Gastroenterology and Hepatology

Volumn 21, Issue 1, 2009, Pages 104-108

  Bonnefont Rousselot, Dominique ^a,b   Condat, Bertrand ^c   Sassolas, Agnès ^c   Chebel, Sabrina ^c   Bittar, Randa ^a   Federspiel, Marie Christine ^a   Cazals Hatem, Dominique ^d   Bruckert, Eric ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c BEAUJON HOSPITAL   (France)

^d Center of biology and pathology   (France)

Author keywords

Cirrhosis; Familial hypocholesterolemia; Truncated apolipoprotein B

Indexed keywords

APOLIPOPROTEIN B;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DISEASE ASSOCIATION; ECHOGRAPHY; FAMILIAL HYPOBETALIPOPROTEINEMIA; GENE MUTATION; HUMAN; HUMAN TISSUE; LIVER BIOPSY; LIVER CIRRHOSIS; MALE; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; STOP CODON;

ADULT; APOLIPOPROTEINS B; EARLY DIAGNOSIS; HUMANS; HYPOBETALIPOPROTEINEMIA, FAMILIAL, APOLIPOPROTEIN B; INCIDENTAL FINDINGS; LIVER CIRRHOSIS; MALE;

EID: 58149214123     PISSN: 0954691X     EISSN: None     Source Type: Journal    
DOI: 10.1097/MEG.0b013e3282ffd9f8     Document Type: Article

References (18)

1. Kane JP, Havel RJ. Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler K, et al. editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill; 2001. pp. 2717-2752.
2. Whitfield A, Barrett PH, van Bockxmeer FM, Burnett JR. Lipid disorders and mutations in the APOB gene. Clin Chem 2004; 50:1725-1732.
3. Tarugi P, Averna M, Di Leo E, Cefalù AB, Noto D, Magnolo L, et al. Molecular diagnosis of hypobetalipoproteinemia: an ENID review. Atherosclerosis 2007; 195:e19-e27.
4. Schonfeld G. Familial hypobetalipoproteinemia: a review. J Lipid Res 2003; 44:878-883.
5. Linton MF, Farese RV, Young SG. Familial hypobetalipoproteinemia. J Lipid Res 1993; 34:521-541.
6. Tanoli T, Yue P, Yablonskiy D, Schonfeld G. Fatty liver in familial hypobetalipoproteinemia: roles of the APOB defects, intra-abdominal adipose tissue, and insulin sensitivity. J Lipid Res 2004; 45:941-947.
7. Eckel RH, Grundy SM, Zimmet PZ. The metabolic syndrome. Lancet 2005; 365:1415-1428.
8. Alberti KG, Zimmet P, Shaw J; IDF Epidemiology Task Force Consensus Group. The metabolic syndrome - a new worldwide definition. Lancet 2005; 366:1059-1062.
9. Egloff M, Léglise D, Duvillard L, Steinmetz J, Boyer MJ, Ruelland A, et al. Multicenter evaluation on different analyzers of three methods for direct HDL-cholesterol assay. Ann Biol Clin (Paris) 1999; 57:561-572.
10. Friedewald WT, Levy RI, Fredrickson DS. Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge. Clin Chem 1972; 18:499-502.
11. Albers JJ, Marcovina SM, Kennedy H. International Federation of Clinical Chemistry standardization project for measurements of apolipoproteins A-I and B. II. Evaluation and selection of candidate reference materials. Clin Chem 1992; 38:658-662.
12. Pease RJ, Milne RW, Jessup WK, Law A, Provost P, Fruchart JC, et al. Use of bacterial expression cloning to localize the epitopes for a series of monoclonal antibodies against apolipoprotein B100. J Biol Chem 1990; 265:553-568.
13. Serfaty L, Andreani T, Giral P, Carbonell N, Chazouillères O, Poupon R. Hepatitis C virus induced hypobetalipoproteinemia: a possible mechanism for steatosis in chronic hepatitis C. J Hepatol 2001; 34:428-434.
14. Asselah T, Rubbia-Brandt L, Marcellin P, Negro F. Steatosis in chronic hepatitis C: why does it really matter? Gut 2006; 55:123-130.
15. Charlton M, Sreekumar R, Rasmussen D, Lindor K, Nair KS. Apolipoprotein synthesis in nonaloholic steatohepatitis. Hepatology 2002; 35:898-904.
16. Srivastava RA, Toth L, Srivastava N, Hinsdale ME, Maeda N, Cefalu AB, et al. Regulation of the apolipoprotein B in heterozygous hypobetalipoproteinemic knock-out mice expressing truncated apoB, B81. Low production and enhanced clearance of apoB cause low levels of apoB. Mol Cell Biochem 1999; 202:37-46.
17. Sankatsing RR, Fouchier SW, de Haan S, Hutten BA, de Groot E, Kastelein JJ, Stroes ES. Hepatic and cardiovascular consequences of familial hypobetalipoproteinemia. Arterioscler Thromb Vasc Biol 2005; 25:1979-1984.
18. Merry DE, Kobayashi Y, Bailey CK, Taye AA, Fischbeck KH. Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy. Hum Mol Genet 1998; 7:693-701.