Lysosomal acid lipase deficiency: Diagnosis and treatment of Wolman and Cholesteryl Ester Storage Diseases

Pediatric Endocrinology Reviews

Volumn 12, Issue , 2014, Pages 125-132

  Porto, Anthony F ^a,b  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b YALE NEW HAVEN HOSPITAL   (United States)

Author keywords

(HAFLD); CESD; Fatty liver; LIPA gene; Lysosomal Acid Lipase (LAL) deficiency; Non Alcoholic Fatty Liver Disease; Wolman

Indexed keywords

ACID LIPASE; ALBUMIN; ANTILIPEMIC AGENT; APOLIPOPROTEIN; APOLIPOPROTEIN C2; CAROTENE; CORTICOSTEROID; CORTICOTROPIN; CREATINE; LYSOSOMAL ACID LIPASE; UNCLASSIFIED DRUG; URIC ACID; CHOLESTEROL ESTERASE; HYPOCHOLESTEROLEMIC AGENT; LIPA PROTEIN, HUMAN;

ARTICLE; ATHEROSCLEROSIS; BONE MARROW TRANSPLANTATION; CALCIFICATION; CHOLESTEROL ESTER STORAGE DISEASE; COMPUTER ASSISTED TOMOGRAPHY; DIARRHEA; DYSLIPIDEMIA; ENZYME REPLACEMENT; HEPATOMEGALY; HUMAN; HYPERTRANSAMINASEMIA; LEUKOCYTE; LIVER VENOOCCLUSIVE DISEASE; MALABSORPTION; NONALCOHOLIC FATTY LIVER; NUCLEAR MAGNETIC RESONANCE IMAGING; OBESITY; PARENTERAL NUTRITION; SPLENOMEGALY; WOLMAN DISEASE; GENETICS; REVIEW; TREATMENT OUTCOME;

ANTICHOLESTEREMIC AGENTS; BONE MARROW TRANSPLANTATION; CHOLESTEROL ESTER STORAGE DISEASE; ENZYME REPLACEMENT THERAPY; HUMANS; STEROL ESTERASE; TREATMENT OUTCOME; WOLMAN DISEASE;

EID: 84908259782     PISSN: 15654753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (59)

1. Miller WL, Bose HS. Early steps in steroidogenesis: intracellular cholesterol trafficking. Journal of Lipid Research. 2011; 52: 2111
2. Abramov A, Schorr S, Wolman M. Generalized xanthomatosis with calcified adrenals. Amer J Dis Child. 1956; 91: 282
3. Crocker AC, Vawter GF, Neuhauser EBD, Rosowsky A. Wolman's disease: three new patients with a recently described lipidosis. Pediatrics. 1965; 35: 627
4. Konno T, Fujii M, Watanuki T, Koizumi. K. Wolman's disease; the first case in Japan. Tohoku J. Exp. Med. 1966; 90: 375
5. Wolman M, Sterk W, Gatt S, Frenkel M. Primary familial xanthomatosis with involvement and calcification of the adrenals. Pediatrics. 1961; 28: 742
6. Marshall WC, Ockenden BG, Fosbrooke AS, Cumings JN. Wolman's Disease: A Rare Lipidosis with Adrenal Calcification. Arch Dis Childh. 1969; 44: 331.
7. Fredrickson, DS. Newly Recognized disorders of cholesterol metabolism. Presented at the American College of Physicians Meeting, Denver, Colorado, April 1-5, 1963
8. Schiff L, Schubert WK, McAdams AJ. Hepatic Cholesterol Ester Storage Disase, A Familial Disorder. American Journal of Medicine. 1968; 44: 538
9. Goldstein JL, Dana SE, Faust JR, Beaudet AL, Brown MS. 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. Journal of Biological Chemistry. 1975; 250: 8487
10. Aslanidis C, Klima H, Lackner KJ, Schmitz G. Short Communication: Genomic Organization of the Human Lysosomal Acid Lipase Gene (LIPA). Genomics. 1994; 20: 329
11. Aslandis C, Ries S, Fehringer P, Buchler C, Klima H, Schmitz G. Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity. Genomics 1996; 33: 85-93
12. Lohse P, Masss S, Lohse P. Compound heterozygosity for a Wolman mutation is frequent among patients with cholesterol ester storage disease. J Lipid Res 2000; 41: 23-31
13. Hooper AJ, Tran HA, Formby MR Burnett JR. A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease. Clinica ChimicaActa. 2008; 398:152
14. Pagani F, Pariyarath, Garcia R. New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. Journal of Lipid Research. 1998; 39:1382
15. Redonnet-Vernhet I, Chatelut M, Basile JP, Salvayre R, Levade T. Cholesteryl Ester Storage Disease: Relationship between Molecular Defects and in Situ Activity of Lysosomal Acid Lipase. Biochemical and Molecular Medicine. 1997; 62, 42
16. Du H, Sheriff S, Bezerra J, Leonova T, Grabowski GA. Molecular and Enzymatic Analyses of Lysosomal Acid Lipase in Cholesteryl Ester Storage Disease. Molecular Genetics and Metabolism. 1998; 64: 126-134
17. Hoeg LM, Demosky SJ, Pescovitz OH, Brewer HB Jr. Cholesteryl Ester Storage Disease and Wolman Disease: Phenotypic Variants of Lysosomal Acid Cholesteryl Ester Hydrolase Deficiency. Am J Hum Genet. 1984; 36:1190-1203.
18. Fowler SD, Brown WJ. Lysosomal acid lipase. In Lipases. B. Borgstrom and H. L. Brockman, editors. Elsevier, New York. 1984; 329-364
19. Brown MS, Sobhani MK, Brunschede GY, Goldstein JL. J. Biol Chem. 1976; 251:3277-3286
20. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalance of lysosomal storage disorders. JAMA 1999;281:249-254
21. Valles-Ayoub Y, Esfandiarifard S, No D, Sinai P, Khokher Z, Kohan M, Kahen T, Darvish D. Wolman disease (LIPA p. G87V) genotype frequency in people of Iranian-Jewish ancestry. Genet Test Mol Biomarkers. 2011; 15(6):395-8
22. Fujiyama J, Sakuraba H, Kuriyama M, Fujita T, Nagata K, Nakagawa H, Osame M. A New mutation (LIPA Tyr22X) of Lysomal Acid Lipase Gene in a Japanese Patient with Wolman Disease. Human Mutation. 1996; 8:377-380.
23. Ries S, Aslandis C, Fehringer P. A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred. Journal of Lipid Research. 1996; 37:1761-65
24. Kikuchi M, Igarashi K, Nora T, Igarashi Y, Hirooka M, Tada K. Evaluation of jejunal function in Wolman's disease. JPGN. 1991:12(1 ):65-69.
25. Muntoni S, Wiebusch H, Jansen-Rust, M, Rust S, Seedorf U, Schulte H, Berger K, Funke H, Assmann G. Prevalance of Cholesteryl Ester Storage Disease. Arterioscler Thromb Vase Biol. 2007;27:1866-1868
26. Grabowski GA, Charnas LW, Du H. Lysosomal Acid Lipase Deficiencies: The Wolman Disease/Cholesteryl Ester Storage Disease Spectrum. The Metabolic and Molecular Bases of Inherited Disease. New York, McGraw-Hill. 2012.
27. Zhang B, Porto, AF. Cholesterol Ester Storage Disease: Protean Presentations of Lysosomal Acid Lipase Deficiency. JPGN. 2013;56: 682-685
28. Michels W, Driscoll DJ, Ferry GD, Duff DF, Beaudet AL. Pulmonary vascular obstruction associated with cholesteryl ester storage disease. J. Pediatr. 1979; 94: 621-623
29. Haller W, Sharif K, Millar AJ, Brown RM, McKiernan PJ. Gallbladder dysfunction in cholesterol ester storage disease. J Pediatr Gastroenterol Nutr. 2010; 50:555-558
30. Dincsoy HP, Rolfes DB, McGraw CA, Schubert WK. Cholesterol ester storage disease and mesenteric lipodystrophy. Am J Clin Pathol. 1984; 81:263-9.
31. Hulkova H, Elleder H. Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens. Histopathology. 2012; 60:1107-1113
32. Rutkowski J, Burt AD, Leavitt M, Hu, W, Cantry D, Quinn AG. Co-Localization of Macrophage Aggregation And Fibrosis In A Rat Model of Lysosomal Acid Lipase (LAL) Deficiency and the Effects of Enzyme Replacement With SBC-102. Abstract presented at LDN World 2013
33. Brown Wj, Warfel J, Greenspan P. Use of Nile red stain in the detection of cholesteryl ester accumulation in acid lipase-deficient fibroblasts. Arch Pathol Lab Med. 1988; 112: 295-297
34. Ozmen MN, Aygun N, Kilic I, Kuran L, Yalcin B, Besim A. Wolman's disease: utrasonographic and computed tomographic findings. Pediatr Radiol. 1992; 22:541-2
35. Nchimi A, Rausin L, Khamis J. Ultrasound appearance of bowel wall in Wolman's disease. Pediatr Radiol. 2003; 33:284-5
36. Hill SC, Hoeg JM, Dwyer AJucich JJ, Doppman JL. CT findings in acid lipase deficiency: wolman disease and cholesteryl ester storage disease. J Comput Assist Tomogr. 1983; 7:815-818
37. Du H, Dardzinski BJ, 0' Brien KJ, Donnelly LF. MRI of Fat Distrubution in a Mouse Model of Lysosomal Acid Lipase Deficiency. American Journal of Radiology. 2005; 184:658-662
38. Thelwall PE, Smith FE, Leavitt MC, Canty D, Hu W, Hollingsworth KG, Thoma C, Trenell Ml, Taylor R, Rutkowski JV, Blamire AM, Quinn AG. Cholesteryl Ester Accumulation in Lysosomal Acid Lipase Deficiency: Non-invasive Identification and Treatment Monitoring by Magnetic Resonance. J. Hepatol. 2013; 59: 543-549
39. Anderson RA, Bryson GM, Parks JS. Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. Mol Genet Metab. 1999;68:333-345
40. Tylki-Szymahska A, Rujner J, Lugowska A, Sawnor-Korszynska D, Wozniewicz B, Czarnowska E. Clinical, Biochemical and histological analysis of seven patients with cholesteryl ester storage disease. Acta PaediatrJpn.1997;39:643-646
41. Lysosomal Acid Lipase Analysis. Baylor College of Medicine, Medical Genetics Laboratories. Available at https://www.bcm.edu/geneticlabs/test-detail.cfm?testcode=4504&show=1. Accessed September 10, 2013
42. Hamilton J, Jones I, Srivastava R, Galloway P. A new method for the measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2. Clinica Chimica Acta. 2012; 413:1207-1210
43. Pisciotta L, Fresa R, Bellocchio A, Pino E, Guido V, Cantafora A, DiRocco M, Calandra S, Bertolini S. Cholesteryl ester storage disease (CESD) due to novel mutations in the LIPA gene. Mol Genet Metab. 2009;97:143-148
44. Vom Dahl S, Harzer K, Rolfs A, Albrecht B, Niederau C, Vogt C, van Weely S, Aerts J, Muller G, Hassinger D. 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 muttion. J Hepatol. 1999; 31(4): 741-746
45. Tolar J, Petryk A, Khan K. Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease. Bone Marrow Transplantation. 2009; 43: 21-27
46. Krivit W, Freese D, Chan KW, Kulkarni R. Wolman's disease: a review of treatment with bone marrow transplantation and considerations for the future. Bone Marrow Transplantation. 1992; 10:97-101
47. Krivit W, Peters C, Dusenbery K, Ben-Yoseph Y, Ramsay NK, Wagner JE, Anderson R. Wolman disease successfully treated by bone marrow transplantation. Bone Marrow Transplantation. 2000; 20:567-570
48. Gramatges MM, Dvorak CC, Reguta DP, Enns GM, Weinberg K, Agarwal R. Letter to the Editor: Pathological evidence of Wolman's disease following hematopoietic stem cell transplantation despite correction of lysosomal acid lipase activity. Bone Marrow Transplantation. 2009; 44: 449-450
49. Stein J, Garty BZ, Dror Y, Fenig E, Zeigler M, Yaniv I. Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation. Eur J Pediatr. 2007; 166: 663-666
50. Tadiboyina VT, Liu DM, Miskie BA, Wang J, Hegele RA. Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease. Lipids Health Dis. 2005;Oct 28;4:26
51. Yokoyama S, McCoy E. Long-term treatment of a homozygous cholesteryl ester storage disease with combined cholestyramine and lovastatin. J Inherit Metab Dis. 1992; 15: 291-292
52. Pagani F, Garcia R, Pariyarath R, Stuani C, Gridelli B, Paone G, Baralle FE. Expression of lysosomal acid lipase mutatnts detected in three patients with cholesteryl ester storage disease. Hum Mol Genet.1996;5(10):1611-1617
53. Pagani F, Pariyarath R, Garcia R, Stuani C. Burlina AB, Ruotolo G, Rabusin M, Baralle FE. New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. J Lipid Res.1998; 39:1382-1388
54. Ferry GD, Whisennand HH, Finegold MJ, Alpert E, Glombicki A. Liver Transplantation for cholesteryl ester storage disease. JPGN. 1991; 12:376-8.
55. Arterburn JN, Lee WN, Wood RP, Shaw BW, Markin RS. Orthotopic liver transplantation for cholesteryl ester storage disease. J Clin Gastroenterol. 1991; 13:482-485
56. Poznansky MJ, Hutchison SK, Davis PJ. Enzyme replacement therapy in fibroblasts from a patient with cholesteryl ester storage disease. FASEB. 1989; 3:152-156
57. Du H, Schiavi S, Levine M, Mishra J, Heur M, Grabowski GA. Enzyme therapy for lysosomal acid lipase deficiency in the mouse. Human Molecular Genetics. 2001; 10:1639-1648
58. Du H, Cameron TL, Garger SJ, Poque GP, Hamm LA, White E, Hanley KM, Grabowski GA. Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice. Journal of Lipid Research. 2008; 49:1646-1657
59. Balwani M, Breen C, Enns GM, Deegan PB, Honzik T, Jones S, Kane JP, Malinova V, Sharma R, Stock EO, Valayannopoulos V, Wraith JE, Burg J, Eckert S, Schneider E, Quinn AG. Clinical Effect and Safety Profile of Recombinant Human Lysosomal Acid Lipase in Patients with Cholesteryl Ester Storage Disease. Hepatology. 2013; 58: 950-957