Cholesteryl ester storage disease: A rare and possibly treatable cause of premature vascular disease and cirrhosis

Journal of Clinical Pathology

Volumn 66, Issue 11, 2013, Pages 918-923

  Reynolds, Tim ^a  

^a UNIVERSITY OF WOLVERHAMPTON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACID LIPASE; COLESTYRAMINE; EZETIMIBE; HIGH DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN; MEVINOLIN; SEBELIPASE ALFA; SIMVASTATIN;

ARTICLE; BIOCHEMISTRY; BONE MARROW TRANSPLANTATION; CELL TRANSPLANTATION; CHOLESTEROL ESTER STORAGE DISEASE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; ECHOGRAPHY; ENZYME ACTIVITY; ENZYME REPLACEMENT; EXON; GENE MUTATION; GENETIC ASSOCIATION; HEMATOPOIETIC CELL; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; LIPID STORAGE; LIVER CIRRHOSIS; LIVER TRANSPLANTATION; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PATIENT SAFETY; PHASE 1 CLINICAL TRIAL (TOPIC); PHASE 2 CLINICAL TRIAL (TOPIC); PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; RARE DISEASE; WOLMAN DISEASE;

ATHEROSCLEROSIS; ENZYMES; INHERITED PATHOLOGY; LIPIDS; LIVER DISEASE;

ANIMALS; ATHEROSCLEROSIS; CHOLESTEROL ESTER STORAGE DISEASE; CHOLESTEROL ESTERS; DRIED BLOOD SPOT TESTING; DYSLIPIDEMIAS; ENZYME INHIBITORS; HUMANS; INFANT; LIVER CIRRHOSIS; LYSOSOMES; METABOLIC NETWORKS AND PATHWAYS; MUTATION; RARE DISEASES; STEROL ESTERASE; VASCULAR DISEASES; WOLMAN DISEASE;

EID: 84888297205     PISSN: 00219746     EISSN: 14724146     Source Type: Journal    
DOI: 10.1136/jclinpath-2012-201302     Document Type: Article

References (79)

1. Fasano T, Pisciotta L, Bocchi L, et al. Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease. Mol Genet Metab 2012;105:450-6.
2. Ben-Haroush A, Yogev Y, Levit O, et al. Isolated fetal ascites caused by Wolman disease. Ultrasound Obstet Gynecol 2003;21:297-8.
3. Ozmen MN, Aygun N, Kilic I, et al. Wolman's disease: ultrasonographic and computed tomographic findings. Pediatr Radiol 1992;22:541-2.
4. Aslanidis C, Reis S, Fehringer P, et al. Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity. Genomics 1996;33:85-93.
5. Saito S, Ohno K, Suzuki T, et al. Structural bases of Wolman disease and cholesteryl ester storage disease. Mol Genet Metab 2012;105:244-8.
6. Bowden KL, Bilbey NJ, Bilawchuk LM, et al. Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease. J Biol Chem 2011;286:30624-35.
7. Fitoussi G, Negre-Salvayre A, Pieraggit M-T, et al. New pathogenetic hypothesis for Wolman disease: possible role of oxidized low-density lipoproteins in adrenal necrosis and calcification. Biochem J 1994;301:267-73.
8. Du H, Heur M, Duanmu M, et al. Lysosomal acid lipase-deficient mice: depletion of white and brown fat, severe hepatosplenomegaly, and shortened life span. J Lipid Res 2001;42:489-500.
9. Du H, Duanmu M, Witte DP. Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage. Hum Mol Gen 1998;7:1347-54.
10. Muntoni S, Wiebusch H, Jansen-Rust M, et al. Prevalence of Cholesteryl Ester Storage Disease. ATVB 2007;27:1866-8.
11. Weiler C, Freudenberg F, Muller-Hocker J. Cholesterol ester storage disease: a rare disease or a rare diagnosis? [German] 〈 Cholesterinesterspeicherkrankheit; Eine seltene, weil zu selten diagnostizierte Krankheit?〉. Pathologe 2009;30:65-9.
12. Valles-Ayoub Y, Esfandiarifard S, No D, et al. Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry. Genet Test Mol Biomarkers 2011;15:395-8.
13. Anderson RA, Sando GN. Cloning and expression of cDNA encoding human lysosomal acid lipase/cholesteryl ester hydrolase. Similarities to gastric and lingual lipases. J Biol Chem 1991;266:22479-84.
14. Du H, Witte DP, Grabowski GA. Tissue and cellular specific expression of murine lysosomal acid lipase mRNA and protein. J Lipid Res 1996;37:937-49.
15. Anderson RA, Byrum RS, Coatest PM, et al. Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. Proc Natl Acad Sci USA 1994;91:2718-22.
16. Lohse P, Maas S, Lohse P, et al. Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease. J Lipid Res 2000;41:23-31.
17. Drebber U, Andersoen M, Kasper HU, et al. Severe chronic diarrhea and weight loss in cholesteryl ester storage disease: a case report. World J Gastroenterol 2005;11:2364-6.
18. Elleder M, Chlumska A, Hayanek J, et al. Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis and liver cancer. J Hepatol 2000;32:528-34.
19. Seedorf U, Wiebusch H, Muntoni S, et al. A novel variant of lysosomal acid lipase (Leu336→Pro) associated with acid lipase deficiency and cholesterol ester storage disease. ATVB 1995;15:773-8.
20. Pagani F, Pariyarath R, Garcia R, et al. New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. J Lipid Res 1998;39:1382-8.
21. Klima H, Ullrich K, Aslanidis C, et al. 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 1993;2:2713-18.
22. Pisciotta L, Fresa R, Bellochio A, et al. Cholesteryl ester storage disease due to novel mutations in the LIPA gene. Mol Genet Metab 2009;97:143-8.
23. vom Dahl S, Harzer K, Rolfs A, et al. Hepatosplenic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anaemia, mesenteric lipodystrophy, increased plasma chitotriosidase and a homozygous acid lipase - 1 exon 8 splice junction mutation. J Hepatol 1999;31:741.6.
24. Dalgic B, Sari S, Gunduz M, et al. Cholesteryl ester storage disease in a young child presenting as isolated hepatomegaly treated with Simvastatin. Turk J Paed 2006;48:148-51.
25. Gasche C, Aslanidis C, Kain R, et al. A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild phenotype and improvement on lovastatin. J Hepatol 1997;27:744-50.
26. Pagani F, Garcia R, Pariyarath R, et al. Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease. Hum Mol Gen 1996;5:1611-17.
27. Ries S, Aslanidis C, Fehringer P, et al. A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred. J Lipid Res 1996;37:1761-5.
28. Muntoni S, Wiebusch H, Funke H, et al. 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. Hum Gen 1995;95:491-4.
29. Zschenker O, Jung N, Rethmeier J, et al. Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease. J Lipid Res 2001;42:1033-40.
30. Roytta M, Fagerlund AS, Salmi TT, et al. Wolman disease: morphological, clinical and genetic studies on the first Scandinavian cases. Clin Genet 1992;42:1-7.
31. Kikuchi M, Igarishi K, Noro T, et al. Evaluation of jejunal function in Wolman's disease. J Pediatr Gastroenterol Nutr 1991;12:65-9.
32. Castro M, Rosati P, Boldrini R, et al. Wolman's disease diagnosed by intestinal biopsy. Italian J Gastroenterol Hepatol 1999;31:610-12.
33. Boldrini R, Devito R, Filocarno M, et al. Wolman disease and cholesterol ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy. Pathol Res Pract 2004;200:231-40.
34. Desai PK, Astrin KH, Thung SN, et al. Cholesteryl ester storage disease: pathologic changes in an affected fetus. Am J Med Genet 1987;26:689-98.
35. Kuriwaki K, Yoshida H. Morphological characteristics of lipid accumulation in liver-constituting cells of acid lipase deficiency rats (Wolman's disease model rats). Pathol Int 1999;49:291-7.
36. Tylki-Szymanska A, Rujner J, Lugowska A, et al. Clinical biochemical and histological analysis of seven patients with cholesteryl ester storage disease. Acta Paediatr Jpn 1997;39:643-6.
37. Di Bisceglie AM, Ishak KG, Rabin L, et al. Cholesteryl ester storage disease: hepatopathology and effects of therapy with lovastatin. Hepatology 1990;11:764-72.
38. Elleder M, Chlumska A, Ledvinova J, et al. Testis - a novel storage site in human cholesteryl ester storage disease. Autopsy report of an adult case with a longstanding subclinical course complicated by accelerated atherosclerosis and liver carcinoma. Virchows Arch 2000;436:82-7.
39. Todoroki T, Matsumoto K, Watanabe K, et al. Accumulated lipids, aberrant fatty acid composition and defective cholesterol ester hydrolase activity in cholesterol ester storage disease. Ann Clin Biochem 2000;37:187-93.
40. Ozman MN, Aygun N, Kilic I, et al. Wolman's disease: ultrasonographic and computed tomographic findings. Ped Radiol 1992;22:541-2.
41. Storm W, Wendel U, Sprenkamp M, et al. [Wolman's disease in an infant]. [German] 〈Wolmansche Erkrankung bei einem Saugling〉. Monatsschrift Kinderheilkunde 1990;138:88-90.
42. Nchimi A, Rausin L, Khamis J. Ultrasound appearance of bowel wall in Wolman's disease. Pediatr Radiol 2003;33:284-5.
43. Fulcher AS, Narla LD, Hingsbergen EA. Pediatric case of the day: Wolman disease. Radiographics 1998;18:533-5.
44. Elleder M, Ledvinova J, Cieslar P, et al. 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 1990;416:357-65.
45. Kuriyama M, Yoshida H, Suzuki M, et al. Lysosomal acid lipase deficiency in rats: lipid analyses and lipase activities in liver and spleen. J Lipid Res 1990;31:1605-12.
46. Redonnet-Vernhet I, Chatelut M, Basile JP, et al. Cholesteryl ester storage disease: relationship between molecular defects and in situ activity of lysosomal acid lipase. Biochem Mol Med 1997;62:42-9.
47. Bona G, Gallina MR, Dolfin G, et al. Prenatal diagnosis of heterozygosis in a pregnancy at risk for Wolman's disease at the 8th week of gestation. Panminerva Medica 1989;31:180-2.
48. van Diggelen OP, von Koskull H, Ammala P, et al. First trimester diagnosis of Wolman's disease. Prenatal Diagn 1988;8:661-3.
49. Negre A, Dagan A, Gatt S. Pyrene-methyl lauryl ester, a new fluorescent substrate for lipases: use for diagnosis of acid lipase deficiency in Wolman's and cholesteryl ester storage diseases. Enzyme 1989;42:110-17.
50. Negre-Salvayre A, Dagan A, Gatt S, et al. Use of pyrenemethyl laurate for fluorescence-based determination of lipase activity in intact living lymphoblastoid cells and for the diagnosis of acid lipase deficiency. Biochem J 1993;294:885-91.
51. Hamilton J, Jones I, Srivastava R, et al. A new method for the measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2. Clin Chim Acta 2012;413:1207-10.
52. Levy R, Ostlund RE, Schonfeld G, et al. Cholesteryl ester storage disease: complex molecular effects of chronic lovastatin therapy. J Lipid Res 1992;33:1005-15.
53. Tadiboyina VT, Liu DM, Miskie BA, et al. Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease. Lipids Health Dis 2005;4:26.
54. NIHR Portfolio. The Utility of ALT, and HDL for Identifying Lysosomal Acid Lipase Deficiency. http://public.ukcrn.org.uk/search/StudyDetail.aspx? StudyID=13245 (accessed 7 Mar 2013).
55. Tolar J, Petryk A, Khan K, et al. Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease. Bone Marrow Transplant 2009;43:21-7.
56. Stein J, Garty BZ, Dror Y, et al. Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation. Eur J Pediatr 2007;166:663-6.
57. Krivit W, Peters C, Dusenbery K, et al. Wolman disease successfully treated by bone marrow transplantation. Bone Marrow Transplant 2000;26:567-70.
58. Glueck CJ, Lichtenstein P, Tracy T, et al. Safety and efficacy of treatment of pediatric cholesteryl ester storage disease with lovastatin. Pediatr Res 1992;32:559-65.
59. Rassoul F, Richter V, Lohse P, et al. Long-term administration of the HMG-CoA reductase inhibitor lovastatin in two patients with cholesteryl ester storage disease. Int J Clin Pharm Ther 2001;39:199-204.
60. Tarantino MD, McNamara DJ, Granstrom P, et al. Lovastatin therapy for cholesterol ester storage disease in two sisters. J Pediatr 1991;118:131-5.
61. Iverson SA, Cairns SR, Ward CP, et al. Asymptomatic cholesteryl ester storage disease in an adult controlled with simvastatin. Ann Clin Biochem 1997;34:433-6.
62. Leone L, Ippoliti PF, Antonicelli R. Use of simvastatin plus cholestyramine in the treatment of lysosomal acid lipase deficiency. J Pediatr 1991;119:1008-9.
63. McCoy E, Yokoyama S. Treatment of cholesteryl ester storage disease with combined cholestyramine and lovastatin. Ann N Y Acad Sci 1991;623:453-4.
64. Ferry GD, Whisennand HH, Finegold MJ, et al. Liver transplantation for cholesteryl ester storage disease. J Pediatr Gastroenterol Nutr 1991;12:376-8.
65. Arterburn JN, Lee WM, Wood RP, et al. Orthotopic liver transplantation for cholesteryl ester storage disease. J Clin Gastroenterol 1991;13:482-5.
66. Du H, Heur M, Witte DP, et al. Lysosomal acid lipase deficiency: correction of lipid storage by adenovirus-mediated gene transfer in mice. Hum Gene Ther 2002;13:1361-72.
67. Tietge UJ, Sun G, Czarnecki S, et al. Phenotypic correction of lipid storage and growth arrest in Wolman disease fibroblasts by gene transfer of lysosomal acid lipase. Hum Gene Ther 2001;12:279-89.
68. Poznansky MJ, Hutchison SK, Davis PJ. Enzyme replacement therapy in fibroblasts from a patient with cholesteryl ester storage disease. FASEB J 1989;3:152-6.
69. Reitman ML, Kornfeld S. Lysosomal enzyme targeting. N-Acetyl glucosaminyl phosphotransferase selectively phosphorylates native lysosomal enzymes. J Biol Chem 1981;256:11977-80.
70. Höning S, Sosa M, Hille-Rehfeld A, et al. The 46-kDa mannose 6-phosphate receptor contains multiple binding sites for clathrin adaptors. J Biol Chem 1997;272:19884-90.
71. Waguri S, Dewitte F, Le Borgne R, et al. Visualization of TGN to endosome trafficking through fluorescently labeled MPR and AP-1 in living cells. Mol Biol Cell 2003;14:142-55.
72. Du H, Levine M, Ganesa C, et al. The role of mannosylated enzyme and the mannose receptor in enzyme replacement therapy. Am J Hum Gen 2005;77:1061-74.
73. Du H, Schiavi S, Levine M, et al. Enzyme therapy for lysosomal acid lipase deficiency in the mouse. Hum Mol Gen 2001;10:1639-48.
74. Du H, Cameron TL, Garger SJ, et al. Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice. J Lipid Res 2008;49:1646-57.
75. Clinical Trials. Gov: Field studies of LAL replacement. http://www.clinicaltrials.gov/ct2/results?term=synageva (accessed 7 Mar 2013).
76. Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human α-galactosidase A - A replacement therapy in Fabry's disease. NEJM 2001;345:9-16.
77. Schiffman R, Kopp JB, Austin HA, et al. Enzyme replacement therapy in Fabry disease: a randomised controlled trial. JAMA 2001;285:2743-9.
78. Deegan P, Hughes D, Mehta A, et al. UK National Guideline for Adult Gaucher Disease, April 2005. http://www.dh.gov.uk/prod-consum-dh/groups/dh- digitalassets/@dh/@en/documents/digitalasset/dh-4118409.pdf (accessed 7 Mar 2013).
79. Balwani M, Breen C, Enns GM, et al. Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryly ester storage disease. Hepatology 2013, published on line. http://onlinelibrary.wiley. com/doi/10.1002/hep.26289/pdf (accessed 22 Apr 2013).