Dynamic changes of lipid profile in Romanian patients with Gaucher disease type 1 under enzyme replacement therapy: A prospective study

Journal of Inherited Metabolic Disease

Volumn 36, Issue 3, 2013, Pages 555-563

  Zimmermann, Anca ^a   Grigorescu Sido, Paula ^b   Rossmann, Heidi ^a   Lackner, Karl J ^a   Drugan, Cristina ^c   Al Khzouz, Camelia ^b   Bucerzan, Simona ^b   Naşcu, Ioana ^b   Zimmermann, Tim ^a   Leucuţa, Daniel ^c   Weber, Matthias M ^a  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

^b Radiology and Central Laboratory   (Romania)

^c IULIU HATIEGANU UNIVERSITY OF MEDICINE AND PHARMACY   (Romania)

Author keywords

[No Author keywords available]

Indexed keywords

CHITOTRIOSIDASE; HEMOGLOBIN; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; IMIGLUCERASE; INTERMEDIATE LOW DENSITY LIPOPROTEIN; LARGE BUOYANT LOW DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; SMALL DENSE LOW DENSITY LIPOPROTEIN; TRIACYLGLYCEROL; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CHOLESTEROL BLOOD LEVEL; CLINICAL ARTICLE; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DISEASE SEVERITY; DYSLIPIDEMIA; ENZYME REPLACEMENT; FEMALE; FOLLOW UP; GAUCHER DISEASE; HEPATOMEGALY; HUMAN; LDL HDL RATIO; MALE; METABOLIC PARAMETERS; PROSPECTIVE STUDY; ROMANIA; SCORING SYSTEM; SEVERITY SCORE INDEX; SPLENOMEGALY; THROMBOCYTE COUNT;

ADOLESCENT; ADULT; ENZYME REPLACEMENT THERAPY; FEMALE; FOLLOW-UP STUDIES; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; LIPID METABOLISM; LIPIDS; MALE; MIDDLE AGED; PROSPECTIVE STUDIES; ROMANIA; YOUNG ADULT;

EID: 84877758386     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9529-3     Document Type: Article

References (42)

1. Alfonso PP, Cenarro A, Perez-Calvo JI, Puzo J, Giralt M, Giraldo P, Pocovi M (2003) Effect of enzyme replacement therapy on lipid profile in patients with Gaucher's disease. Med Clin (Barc) 120(17):641-646
2. Andersson H, Kaplan P, Kacena K, Yec J (2008) Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1. Pediatrics 122:1182-1190
3. Austin MA, King MC, Vranizan KM, Krauss RM (1990) Atherogenic lipoprotein phenotype. A proposed genetic marker for coronary heart disease risk. Circulation 82:495-506
4. Barnevaeld RA, Keijzer W, Tegelaers FP, Ginns EI, Geurts van Kessel A, Brady RO et al (1983) Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q23 of chromosome 1 using monoclonal antibodies. Hum Genet 64:227-23
5. Beutler E, Grabowski G (2001) Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Vaile D (eds) The metabolic and molecular bases of lnherited disease. Mc. Graw-Hill, New York, pp 3635-68
6. Beutler E, Gelbart T, West C (1990) The facile detection of the nt 1226 mutation of glucocerebrosidase dose by mismatched PCR. Clin Chim Acta 194(2-3):161-166
7. Beutler E, Gelbart T, Kuhl W, Sorhe J, West C (1991) Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state. Proc Natl Acad Sci USA 88:10544-547
8. Cenarro A, Pocovi M, Giraldo P, Garcia-Otin AL, Ordovas JM (1999) Plasma lipoprotein responses to enzyme-replacement in Gaucher's disease. Lancet 353:642-643
9. Chapman MJ, Goldstein S, Lagrange D, Laplaud PM (1981) A density gradient ultracentrifugal procedure for the isolation of the major lipoprotein classes from human serum. J Lipid Res 22:339-358
10. Cohen II, Yaniv I, Baris H (2010) Diagnosis of severe type 1 Gaucher's disease before irreversible damage occurs: is HDL cholesterol the answer? Brit J Haematol 150:108-127
11. Dahl N, Lagerström M, Erikson A, Pettersson U (1990) Simplified detection of Nci mutation in Gaucher disease. Lancet 335:1589-90
12. de Fost M, Langeveld M, Franssen R, Hutten BA, Groener JEM, de Groot E et al (2009) Low HDL cholesterol levels in type 1 Gaucher disease do not lead to an increased risk of cardiovascular disease. Atherosclerosis 204:267-272
13. Di Rocco M, Giona F, Carubbi F, Linari S, Minichilli F, Brady RO et al (2008) A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease. Haematologica 93(8):1211-18
14. Drugan C, Procopciuc L, Jebeleanu G, Grigorescu-Sido P, Dussau J, Poenaru L et al (2002) Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations. Eur J Hum Genet 10:511-515
15. Eichner JE, Dunn ST, Perveen G, Thompson DM, Stewart KE, Stroehla BC (2002) Apolipoprotein E polymorphism and cardiovascular disease: a HuGE review. Am J Epidemiol 155(6):487-495
16. Expert panel on Detection, Evaluation and Treatment of High Blood Cholesterol in Adults. Executive summary of the third report on the National Cholesterol Education Program (NCEP) (1994) Expert panel on Detection, Evaluation and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel II) Circ J Am Heart (formerly Circulation) 89:1333-1445
17. Expert panel on Detection, Evaluation and Treatment of High Blood Cholesterol in Adults. Executive summary of the third report on the National Cholesterol Education Program (NCEP) (2001) Expert panel on Detection, Evaluation and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III) JAMA 285:2486-2497
18. Geiss HC, Bremer S, Barrett PHR, Otto C, Parhofer KG (2004) In vivo metabolism of LDL subfractions in patients with homozygous FH on statin therapy: rebound analysis of LDL subfractions after LDL apheresis. J Lipid Res 45:1459-67
19. Ginsberg H, Grabowski GA, Gibson JC, Fagerstrom R, Goldblatt J, Gilbert HS, Desnick RJ (1984) Reduced plasma concentrations of total, low density lipoprotein and high density lipoprotein cholesterol in patients with Gaucher type 1 disease. Clin Genet 2:109-116
20. Giraldo P, Pocovi M, Perez-Calvo JI, Rusio-Felix D, Giralt M (2000) On the behalf of Spanish Gaucher's Disease Registry. Haematologica 85:792-799
21. Grigorescu-Sido P, Drugan C, Al Khzouz C, Zimmermann A, Coldea C, Deneş C et al (2010) Baseline characteristics and outcome in Romanian patients with Gaucher disease type 1. Eur J of Internal Med 21:104-113
22. Hixson JE, Vernier DT (1990) Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with Hhal. J Lip Res 31(3):545-548
23. Hollak CE, van Weely S, van Oers MH, Aerts JM (1994) Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest 93(3):1288-92
24. I.C.G.G: Gaucher Registry. Annual Report 2008. www.registrynxt. com
25. Lamarche B, Tchernof A, Moorjani S, Chantin B, Dagenais GR, Lupien PJ, Despres JP (1997) Small dense low-density lipoprotein particles as a predictor of the risk of ischemic heart disease in men. Circulation 95:69-75
26. Le NA, Gibson JC, Rubinstein A, Grabowski GA, Ginsberg HN (1988) Abnormalities in lipoprotein metabolism in Gaucher type 1 disease. Metabolism 37(3):240-245
27. Lorberboym M, Vallabhajosula S, Lipszyc H, Pastores G (1997) Scintigraphic evaluation of Tc-99m-low-density lipoprotein (LDL) distribution in patients with Gaucher disease. Clin Genet 52(1):7-11
28. Mehta A (2006) Epidemiology and natural history of Gaucher's disease. Eur J Int Med 17(Suppl):S2-5
29. Meikle PJ, Fuller M, Hopwood JJ (2007) Epidemiology and screening policy. In: Futerman AM, Zimran A (eds) Gaucher disease. CRC Press, Taylor and Francis Group, FI, pp 321-340
30. Nigon F, Lesnik P, Rouis M, Chapman MJ (1991) Discrete subspecies of human low density lipoproteins are heterogenous in their interaction with the cellular LDL receptor. J Lipid Res 32:1741-1753
31. Patlas M, Hadas-Halpern I, Abrahamov A, Zimran A, Elstein D (2002) Repeat abdominal ultrasound evaluation of 100 patients with type 1 Gaucher disease treated with enzyme replacement therapy for up to 7 years. Hematol J 3:17-20
32. Peters SP, Coyle P, Glew RH (1976) Differenciation of beta-glucocerebrosidase from beta-glucosidase in human tissues using sodium taurocholate. Arch Biochem Biophys 175:569-582
33. Pocovi M, Cenarro A, Civeira F, Torralba MA, Perez-Calvo JI, Mozas P et al (1998) Beta-glucocerebrosidase gene locus as a link for Gaucher's disease and familial hypo-alpha-lipoproteinemia. Lancet 351(9120):1919-1923
34. Puzo J, Alfonso P, Irun P, Gervas J, Pocovi M, Giraldo P (2010) Changes in the atherogenic profile of patients with type 1 Gaucher disease after miglustat therapy. Atherosclerosis 209(2):515-519
35. Sims KB, Pastores GM, Weinreb NJ, Barranger J, Rosenbloom BE, Packman S et al (2008) Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study. Clin Genet 73(5):430-440
36. Stein P, Yang R, Liu J, Pastores GM, Mistry PK (2011) Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity. J Inherit Metab Dis 34:429-437
37. Stirnemann J, Caubel I, Belmatoug N (2004) La maladie de Gaucher. Encyclopedie Orphanet; http://www.orpha.net/data/patho/FR/fr-gaucher.pdf: 1-5
38. Taddei TH (2010) High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease. J Inherit Metab Dis 33(3):291-300
39. Tershakovek AM, Rader DJ (2004) Disorders of lipoprotein metabolism and transport. In: Behrman RE, Kliegman RM, Jenson HB (eds) Nelson textbook of pediatrics, 17th edn. Saunders, Philadelphia, p 448
40. Vakkilainen J, Steiner G, Ansquer JC, Aaubin F, Rattier S, Foucher C et al (2003) Relationships between LDL lipoprotein particle size, plasma lipoproteins and progression of coronary artery disease. Circulation 107:1733-1737
41. von Eckardstein A, Nofer J, Assmann G (2001) High density lipoproteins and arteriosclerosis. Role of cholesterol efflux and reverse cholesterol transport. Arterioscler Thromb Vasc Biol 21:13-27
42. Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P et al (2002) Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med 113:112-119