Skip to main content
SpringerLink
Log in

Cholesterol Ester Storage Disease (CESD) Diagnosed in an Asymptomatic Adult

  • Case Report
  • Published:
Digestive Diseases and Sciences Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3

References

  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

    Google Scholar 

  2. Aslanidis C, Ries S, Fehringer P, Buchler C, Klima H, Schmitz G (1996) Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity. Genomics 33(1):85–93

    Article  PubMed  CAS  Google Scholar 

  3. Pagani F, Pariyarath R, Garcia R, Stuani C, Burlina AB, Ruotolo G, Rabusin M, Baralle FE (1998) New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. J Lipid Res 39:1382–1388

    PubMed  CAS  Google Scholar 

  4. Goldstein JL, Dana SE, Faust JR, Beaudet AL, Brown MS (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

    PubMed  CAS  Google Scholar 

  5. Cummings MH, Watts GF (1995) Increased hepatic secretion of very-low- density lipoprotein apolipoprotein B-100 in cholesteryl ester storage disease. Clin Chem 41(1):111–114

    PubMed  CAS  Google Scholar 

  6. Kostner GM, Hadorn B, Roscher A, Zechner R (1985) Plasma lipids and lipoproteins of a patient with cholesteryl ester storage disease. J Inherit Metab Dis 8(1):9–12

    Article  PubMed  CAS  Google Scholar 

  7. D’Agostino D, Bay L, Gallo G, Chamoles N (1998) Cholesterol ester storage disease: Clinical, biochemical, and pathological studies of four new cases. J Pediatr Gastroenterol Nutr 7:446–450

    Google Scholar 

  8. Lohse P, Maas S, Sewell AC, van Diggelen OP, Seidel D (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

    PubMed  CAS  Google Scholar 

  9. Klima H, Ullrich K, Aslanidis C, Fehringer P, Lackner KJ, Schmitz G (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

    Article  PubMed  CAS  Google Scholar 

  10. Seedorf U, Wiebusch H, Muntoni S, Christensen N C, Skovby F, Nickel V, Roskos M, Funke H, Ose L, Assmann G (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

    CAS  Google Scholar 

  11. Muntoni S, Wiebusch H, Funke H, Ros E, Seedorf U, Assmann G (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

    Article  PubMed  CAS  Google Scholar 

  12. Ameis D, Brockmann G, Knoblich R, Merkel M, Ostlund RE Jr, Yang JW, Coates PM, Cortner JA, Feinman SV, Greten H (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

    PubMed  CAS  Google Scholar 

  13. Pagani F, Zagato L, Merati G, Paone G, Gridelli B, Maier JA (1994) A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease. Hum Mol Genet 3(9):1605–1609

    Article  PubMed  CAS  Google Scholar 

  14. Elleder M, Chlumska A, Hyanek J, Pouptova H, Ledvinova J, Maas S, Lohse P (2000) Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer. J Hepatol 32(3):528–534

    Article  PubMed  CAS  Google Scholar 

  15. Gasche C, Aslanidis C, Kain R, Exner M, Helbich T, Dejaco C, Schmitz G, Ferenci P (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

    Article  PubMed  CAS  Google Scholar 

  16. Tarantino MD, McNamara DJ, Grandstrom P, Ellefson RD, Unger EC, Udall JN Jr (1991) Lovastatin therapy for cholesterol ester storage disease in two sisters. J Pediatr 118:131–135

    Article  PubMed  CAS  Google Scholar 

  17. Ginsberg HN, Le NA, Short P, Ramakrishna R, Desnick RJ (1987) Suppression of apolipoprotein B production during treatment of cholesterol ester storage disease with lovastatin. J Clin Invest 80:1692–1697

    Article  PubMed  CAS  Google Scholar 

  18. Glueck CJ, Lichtenstein P, Tracy T, Speirs J (1992) Safety and efficacy of treatment of pediatric cholesteryl ester storage disease with lovastatin. Pediatr Res 32:559–565

    Article  PubMed  CAS  Google Scholar 

  19. Rassoul F, Richter V, Lohse P, Naumann A, Purschwitz K, Keller E (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

    PubMed  CAS  Google Scholar 

  20. Leone L, Ippoliti PF, Antonicelli R (1991) Use of simvastatin plus cholestyramine in the treatment of lysosomal acid lipase deficiency. J Pediatr 119:1008–1009

    PubMed  CAS  Google Scholar 

  21. McCoy E, Yokoyama S (1991) Treatment of cholesteryl ester storage disease with combined cholestyramine and lovastatin. Ann N Y Acad Sci 623:453–454

    Article  PubMed  CAS  Google Scholar 

  22. Tadiboyina VT, Liu DM, Miskie BA, Wang J, Hegele RA (2005) Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease. Lipids Health Dis 4:26

    Article  PubMed  Google Scholar 

  23. Bisceglie AM, Ishak KG, Rabin L, Hoeg JM (1990) Cholesteryl ester storage disease: hepatopathology and effects of therapy with lovastatin. Hepatology 11:764–772

    Article  PubMed  Google Scholar 

  24. Du H, Heur M, Witte DP, Ameis D, Grabowski GA (2002) Lysosomal acid lipase deficiency: correction of lipid storage by adenovirus-mediated gene transfer in mice. Hum Gene Ther 13(11):1361–1372

    Article  PubMed  CAS  Google Scholar 

  25. Poznansky MJ, Hutchison SK, Davis PJ (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

    PubMed  CAS  Google Scholar 

  26. Leone L, Ippoliti PF, Antonicelli R, Balli F, Gridelli B (1995) Treatment and liver transplantation for cholesterol ester storage disease. J Pediatr 127(3):509–510

    Article  PubMed  CAS  Google Scholar 

  27. Arterburn JN, Lee WM, Wood RP, Shaw BW, Markin RS (1991) Orthotopic liver transplantation for cholesteryl ester storage disease. J Clin Gastroenterol 13(4):482–485

    PubMed  CAS  Google Scholar 

  28. Ferry GD, Whisennand HH, Finegold MJ, Alpert E, Glombicki A (1991) Liver transplantation for cholesteryl ester storage disease. J Pediatr Gastroenterol Nutr 12(3):376–378

    Article  PubMed  CAS  Google Scholar 

  29. Muntoni S, Wiebusch H, Jansen-Rust M, Rust S, Seedorf U, Schulte H, Berger K, Funke H, Assmann G (2007) Prevalence of cholesteryl ester storage disease. Arterioscler Thromb Vasc Biol 27(8):1866–1868

    Article  PubMed  CAS  Google Scholar 

  30. Sloan HR, Fredrickson DS (1972) Enzyme deficiency in cholesterol ester storage disease. J Clin Invest 51:1923–1926

    Article  PubMed  CAS  Google Scholar 

  31. Dincsoy HP, Rolfes DB, McGraw CA, Schubert WK (1984) Cholesterol ester storage disease and mesenteric lipodystrophy. Am J Clin Pathol 81(2): 263–269

    PubMed  CAS  Google Scholar 

  32. Besley GT, Broadhead DM, Lawlor E, McCann SR, Dempsey JD, Drury MI, Crowe J (1984) Cholesterol ester storage disease in an adult presenting with sea-blue histiocytosis. Clin Genet 26(3):195–203

    PubMed  CAS  Google Scholar 

  33. Elleder M, Ledvinova J, Cieslar P, Kuhn R (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

    Article  CAS  Google Scholar 

  34. Pagani F, Garcia R, Pariyarath R, Stuani C, Gridelli B, Paone G, Baralle FE (1996) Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease. Hum Mol Genet 5(10):1611–1617

    Article  PubMed  CAS  Google Scholar 

  35. Iverson SA, Cairns SR, Ward CP, Fensom AH (1997) Asymptomatic cholesteryl ester storage disease in an adult controlled with simvastatin. Ann Clin Biochem 34(Pt 4):433–436

    PubMed  Google Scholar 

  36. Anderson RA, Bryson GM, Parks JS (1999) Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. Mol Genet Metab 68(3):333–345

    Article  PubMed  CAS  Google Scholar 

  37. vom Dahl S, Harzer K, Rolfs A, Albrecht B, Niederau C, Vogt C, van Weely S, Aerts J, Muller G, Haussinger D (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

    Article  PubMed  CAS  Google Scholar 

  38. Drebber U, Andersen M, Kasper HU, Lohse P, Stolte M, Dienes HP (2005) Severe chronic diarrhea and weight loss in cholesteryl ester storage disease: a case report. World J Gastroenterol 11(15):2364–2366

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Medicine, John H. Stroger Jr. Hospital of Cook County, Rush University, 1901 W Harrison St, Chicago, IL, 60612, USA

    Hemant Chatrath

  2. Division of Gastroenterology, Emory University, Atlanta, GA, USA

    Steven Keilin

  3. Division of Gastroenterology, John H. Stroger Jr. Hospital of Cook County, Rush University, Chicago, IL, 60612, USA

    Bashar M. Attar

Authors
  1. Hemant Chatrath
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Steven Keilin
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Bashar M. Attar
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Bashar M. Attar.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Chatrath, H., Keilin, S. & Attar, B.M. Cholesterol Ester Storage Disease (CESD) Diagnosed in an Asymptomatic Adult . Dig Dis Sci 54, 168–173 (2009). https://doi.org/10.1007/s10620-008-0310-2

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10620-008-0310-2

Keywords

Search

Navigation