Cholesterol ester storage disease (CESD) diagnosed in an asymptomatic adult

Digestive Diseases and Sciences

Volumn 54, Issue 1, 2009, Pages 168-173

  Chatrath, Hemant ^a   Keilin, Steven ^b   Attar, Bashar M ^c  

^a RUSH MEDICAL COLLEGE   (United States)

^b EMORY UNIVERSITY   (United States)

^c RUSH UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MEVINOLIN; RECOMBINANT ALPHA2A INTERFERON; RIBAVIRIN;

ABDOMINAL RADIOGRAPHY; ADULT; ARTICLE; CASE REPORT; CHOLESTEROL ESTER STORAGE DISEASE; FIBROBLAST CULTURE; HEPATITIS C; HEPATOMEGALY; HUMAN; HUMAN TISSUE; HYPERCHOLESTEROLEMIA; LABORATORY TEST; LIVER BIOPSY; LIVER FUNCTION TEST; MALE; PHYSICAL EXAMINATION; PRIORITY JOURNAL;

ADULT; BIOPSY; CHOLESTEROL ESTER STORAGE DISEASE; CHOLESTEROL, HDL; DIAGNOSIS, DIFFERENTIAL; HUMANS; INCIDENTAL FINDINGS; LIVER; MALE;

EID: 58149277097     PISSN: 01632116     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10620-008-0310-2     Document Type: Article

References (38)

1. Assmann G, Seedorf U (2001) Acid lipase deficiency: Wolman disease and cholesterol ester storage disease. In: Sciver CR, Beuadet LA, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3551-3572
2. C Aslanidis S Ries P Fehringer C Buchler H Klima G Schmitz 1996 Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity Genomics 33 1 85 93
3. F Pagani R Pariyarath R Garcia C Stuani AB Burlina G Ruotolo M Rabusin FE Baralle 1998 New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease J Lipid Res 39 1382 1388
4. JL Goldstein SE Dana JR Faust AL Beaudet MS Brown 1975 Role of lysosomal acid lipase in the metabolism of plasma low density lipoprotein: observations in cultured fibroblasts from a patient with cholesteryl ester storage disease J Biol Chem 250 8487 8495
5. MH Cummings GF Watts 1995 Increased hepatic secretion of very-low- density lipoprotein apolipoprotein B-100 in cholesteryl ester storage disease Clin Chem 41 1 111 114
6. GM Kostner B Hadorn A Roscher R Zechner 1985 Plasma lipids and lipoproteins of a patient with cholesteryl ester storage disease J Inherit Metab Dis 8 1 9 12
7. D D'Agostino L Bay G Gallo N Chamoles 1998 Cholesterol ester storage disease: Clinical, biochemical, and pathological studies of four new cases J Pediatr Gastroenterol Nutr 7 446 450
8. P Lohse S Maas AC Sewell OP van Diggelen D Seidel 1999 Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease J Lipid Res 40 221 228
9. H Klima K Ullrich C Aslanidis P Fehringer KJ Lackner G Schmitz 1993 A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease J Clin Invest 92 6 2713 2718
10. U Seedorf H Wiebusch S Muntoni N C Christensen F Skovby V Nickel M Roskos H Funke L Ose G Assmann 1995 A novel variant of lysosomal acid lipase (Leu336->Pro) associated with acid lipase deficiency and cholesterol ester storage disease Arteriosclerosis, Thrombosis & Vascular Biology 15 6 773 778
11. S Muntoni H Wiebusch H Funke E Ros U Seedorf G Assmann 1995 Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD) Hum Genet 95 491 494
12. D Ameis G Brockmann R Knoblich M Merkel RE Ostlund Jr JW Yang PM Coates JA Cortner SV Feinman H Greten 1995 A 5' splice-region mutation and a dinucleotide deletion in the lysosomal acid lipase gene in two patients with cholesteryl ester storage disease J Lipid Res 36 2 241 250
13. F Pagani L Zagato G Merati G Paone B Gridelli JA Maier 1994 A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease Hum Mol Genet 3 9 1605 1609
14. M Elleder A Chlumska J Hyanek H Pouptova J Ledvinova S Maas P Lohse 2000 Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer J Hepatol 32 3 528 534
15. C Gasche C Aslanidis R Kain M Exner T Helbich C Dejaco G Schmitz P Ferenci 1997 A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild phenotype and improvement on lovastatin J Hepatol 27 4 744 750
16. MD Tarantino DJ McNamara P Grandstrom RD Ellefson EC Unger JN Udall Jr 1991 Lovastatin therapy for cholesterol ester storage disease in two sisters J Pediatr 118 131 135
17. HN Ginsberg NA Le P Short R Ramakrishna RJ Desnick 1987 Suppression of apolipoprotein B production during treatment of cholesterol ester storage disease with lovastatin J Clin Invest 80 1692 1697
18. CJ Glueck P Lichtenstein T Tracy J Speirs 1992 Safety and efficacy of treatment of pediatric cholesteryl ester storage disease with lovastatin Pediatr Res 32 559 565
19. F Rassoul V Richter P Lohse A Naumann K Purschwitz E Keller 2001 Long- term administration of the 3hydroxy3methylglutaryl (HMG)-coenzymeA (CoA) reductase inhibitor lovastatin in two patients with cholesteryl ester storage disease Int J Clin Pharmacol Ther 39 5 199 204
20. L Leone PF Ippoliti R Antonicelli 1991 Use of simvastatin plus cholestyramine in the treatment of lysosomal acid lipase deficiency J Pediatr 119 1008 1009
21. E McCoy S Yokoyama 1991 Treatment of cholesteryl ester storage disease with combined cholestyramine and lovastatin Ann N Y Acad Sci 623 453 454
22. VT Tadiboyina DM Liu BA Miskie J Wang RA Hegele 2005 Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease Lipids Health Dis 4 26
23. AM Bisceglie KG Ishak L Rabin JM Hoeg 1990 Cholesteryl ester storage disease: hepatopathology and effects of therapy with lovastatin Hepatology 11 764 772
24. H Du M Heur DP Witte D Ameis GA Grabowski 2002 Lysosomal acid lipase deficiency: correction of lipid storage by adenovirus-mediated gene transfer in mice Hum Gene Ther 13 11 1361 1372
25. MJ Poznansky SK Hutchison PJ Davis 1989 Enzyme replacement therapy in fibroblasts from a patient with cholesteryl ester storage disease. [Case Reports. Journal Article. Research Support, Non-U.S. Gov't] FASEB J 3 2 152 156
26. L Leone PF Ippoliti R Antonicelli F Balli B Gridelli 1995 Treatment and liver transplantation for cholesterol ester storage disease J Pediatr 127 3 509 510
27. JN Arterburn WM Lee RP Wood BW Shaw RS Markin 1991 Orthotopic liver transplantation for cholesteryl ester storage disease J Clin Gastroenterol 13 4 482 485
28. GD Ferry HH Whisennand MJ Finegold E Alpert A Glombicki 1991 Liver transplantation for cholesteryl ester storage disease J Pediatr Gastroenterol Nutr 12 3 376 378
29. S Muntoni H Wiebusch M Jansen-Rust S Rust U Seedorf H Schulte K Berger H Funke G Assmann 2007 Prevalence of cholesteryl ester storage disease Arterioscler Thromb Vasc Biol 27 8 1866 1868
30. HR Sloan DS Fredrickson 1972 Enzyme deficiency in cholesterol ester storage disease J Clin Invest 51 1923 1926
31. HP Dincsoy DB Rolfes CA McGraw WK Schubert 1984 Cholesterol ester storage disease and mesenteric lipodystrophy Am J Clin Pathol 81 2 263 269
32. GT Besley DM Broadhead E Lawlor SR McCann JD Dempsey MI Drury J Crowe 1984 Cholesterol ester storage disease in an adult presenting with sea-blue histiocytosis Clin Genet 26 3 195 203
33. M Elleder J Ledvinova P Cieslar R Kuhn 1990 Subclinical course of cholesterol ester storage disease (CESD) diagnosed in adulthood. Report on two cases with remarks on the nature of the liver storage process Virchows Archiv-A, Pathol Anat Histopathol 416 4 357 365
34. F Pagani R Garcia R Pariyarath C Stuani B Gridelli G Paone FE Baralle 1996 Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease Hum Mol Genet 5 10 1611 1617
35. SA Iverson SR Cairns CP Ward AH Fensom 1997 Asymptomatic cholesteryl ester storage disease in an adult controlled with simvastatin Ann Clin Biochem 34 Pt 4 433 436
36. RA Anderson GM Bryson JS Parks 1999 Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease Mol Genet Metab 68 3 333 345
37. S vom Dahl K Harzer A Rolfs B Albrecht C Niederau C Vogt S van Weely J Aerts G Muller D Haussinger 1999 Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase -1 exon 8 splice junction mutation J Hepatol 31 4 741 746
38. U Drebber M Andersen HU Kasper P Lohse M Stolte HP Dienes 2005 Severe chronic diarrhea and weight loss in cholesteryl ester storage disease: a case report World J Gastroenterol 11 15 2364 2366