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Articles

Gaucher disease epidemiology and natural history: a comprehensive review of the literature

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References

  • Rosenbloom BE, Weinreb NJ. Gaucher disease: a comprehensive review. Crit Rev Oncog. 2013;18(3):163–175.
  • Mistry PK, Liu J, Yang M, et al. Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proc Natl Acad Sci USA. 2010;107(45):19473–19478.
  • Charrow J, Andersson HC, Kaplan P, et al. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med. 2000;160(18):2835–2843.
  • Horowitz M, Pasmanik-Chor M, Borochowitz Z, et al. Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population. Hum Mutat. 1998;12(4):240–244.
  • Meikle PJ, Hopwood JJ, Clague AE, et al. Prevalence of lysosomal storage disorders. JAMA. 1999;281(3):249–254.
  • Mistry PK, Cappellini MD, Lukina E, et al. A reappraisal of Gaucher disease-diagnosis and disease management algorithms. Am J Hematol. 2011;86(1):110–115.
  • Cappellini MD. A rare condition in haematological practice – Gaucher disease. Eur Oncol Haematol. 2015;11(1):15–20.
  • Mistry PK, Weinthal JA, Weinreb NJ. Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion. Clin Adv Hematol Oncol. 2012;10(6 Suppl. 8):1–16.
  • Burrow TA, Barnes S, Grabowski GA. Prevalence and management of Gaucher disease. Pediatric Health Med Ther. 2011;2:59–73.
  • Charrow J, Dulisse B, Grabowski GA, et al. The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease. Clin Genet. 2007;71(3):205–211.
  • Grabowski GA, Golembo M, Shaaltiel Y. Taliglucerase alfa: an enzyme replacement therapy using plant cell expression technology. Mol Genet Metab. 2014;112(1):1–8.
  • Hughes DA, Gonzalez DE, Lukina EA, et al. Velaglucerase alfa (VPRIV) enzyme replacement therapy in patients with Gaucher disease: long-term data from phase III clinical trials. Am J Hematol. 2015;90(7):584–591.
  • Kamath RS, Lukina E, Watman N, et al. Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat. Skeletal Radiol. 2014;43(10):1353–1360.
  • Lukina E, Watman N, Dragosky M, et al. Eliglustat, an investigational oral therapy for Gaucher disease type 1: phase 2 trial results after 4 years of treatment. Blood Cells Mol Dis. 2014;53(4):274–276.
  • Shemesh E, Deroma L, Bembi B, et al. Enzyme replacement and substrate reduction therapy for Gaucher disease. Cochrane Database Syst Rev. 2015;3:1–57.
  • Weinreb N, Taylor J, Cox T, et al. A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase. Am J Hematol. 2008;83(12):890–895.
  • Wenstrup RJ, Kacena KA, Kaplan P, et al. Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease. J Bone Miner Res. 2007;22(1):119–126.
  • Erikson A, Åström M, Mansson JE. Enzyme infusion therapy of the Norrbottnian (type 3) Gaucher disease. Neuropediatrics. 1995;26(4):203–208.
  • Schiffmann R, Fitzgibbon EJ, Harris C, et al. Randomized, controlled trial of miglustat in Gaucher’s disease type 3. Ann Neurol. 2008;64(5):514–522.
  • Sechi A, Deroma L, Dardis A, et al. Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients. Mol Genet Metab. 2014;113(3):213–218.
  • Mistry PK, Sadan S, Yang R, et al. Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention. Am J Hematol. 2007;82(8):697–701.
  • Thomas AS, Mehta AB, Hughes DA. Diagnosing Gaucher disease: an on-going need for increased awareness amongst haematologists. Blood Cells Mol Dis. 2013;50(3):212–217.
  • Stirnemann J, Vigan M, Hamroun D, et al. The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients. Orphanet J Rare Dis. 2012;7:77.
  • Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969–1996. Pediatrics. 2000;105(1):e10.
  • Dionisi-Vici C, Rizzo C, Burlina AB, et al. Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. J Pediatr. 2002;140(3):321–329.
  • Hopkins PV, Campbell C, Klug T, et al. Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri. J Pediatr. 2015;166(1):172–177.
  • Hult M, Darin N, von Döbeln U, et al. Epidemiology of lysosomal storage diseases in Sweden. Acta Paediatr. 2014;103(12):1258–1263.
  • Mechtler TP, Stary S, Metz TF, et al. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet. 2012;379(9813):335–341.
  • Owada M, Yoshikatsu Y, Teruo K. Incidence and outcome of patients with Gaucher disease. Pediatr Int. 2000;104(7):717–722.
  • Ozkara HA, Topcu M. Sphingolipidoses in Turkey. Brain Dev. 2004;26(6):363–366.
  • Talbaoui H, Puech JP, Dahri S, et al. Epidemiological study of lysosomal storage diseases in Morocco: experience of central laboratory of biochemistry in Rabat. J Inherit Metab Dis. 2013;2013(36(Suppl. 2)):S298–555.
  • Zuckerman S, Lahad A, Shmueli A, et al. Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases. JAMA. 2007;298(11):1281–1290.
  • Brady RO. Glucosylceramide lipidosis: Gaucher’s disease. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, editors. The metabolic basis of inherited disease. 4th ed. New York, NY: McGraw-Hill; 1978. p. 731–746.
  • Kadali S, Kolusu A, Gummadi MR, et al. The relative frequency of lysosomal storage disorders: a medical genetics referral laboratory’s experience from India. J Child Neurol. 2014;29(10):1377–1382.
  • Giraldo P, Alfonso P, Irun P, et al. Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula. Orphanet J Rare Dis. 2012;7:17.
  • Giraldo P, Pocovi M, Perez-Calvo J, et al. Report of the Spanish Gaucher's disease registry: clinical and genetic characteristics. Haematologica. 2000;85(8):792–799.
  • Pinto R, Caseiro C, Lemos M, et al. Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet. 2004;12(2):87–92.
  • Poorthuis BJ, Wevers RA, Kleijer WJ, et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet. 1999;105(1–2):151–156.
  • Poupetova H, Ledvinova J, Berna L, et al. The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. J Inherit Metab Dis. 2010;33(4):387–396.
  • Zimran A, Gelbart T, Westwood B, et al. High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. Am J Hum Genet. 1991;49(4):855–859.
  • Balwani M, Fuerstman L, Kornreich R, et al. Type 1 Gaucher disease: significant disease manifestations in “asymptomatic” homozygotes. Arch Intern Med. 2010;170(16):1463–1469.
  • Beutler E, Nguyen NJ, Henneberger MW, et al. Gaucher disease: gene frequencies in the Ashkenazi Jewish population. Am J Hum Genet. 1993;52(1):85–88.
  • Orenstein M, Barbouth D, Bodamer OA, et al. Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes. Orphanet J Rare Dis. 2014;9:45.
  • Essabar L, Meskini T, Lamalmi N, et al. Gaucher’s disease: report of 11 cases with review of literature. Pan Afr Med J. 2015;20:18.
  • Talbaoui H, Dahri S, Benhammou B, et al. Biological study of pediatric forms of Gaucher disease in Moroccan patients. J Inherit Metab Dis. 2014;37(1):2.
  • Weinreb NJ, Lee RE. Causes of death due to hematological and non-hematological cancers in 57 US patients with type 1 Gaucher Disease who were never treated with enzyme replacement therapy. Crit Rev Oncog. 2013;18(3):177–195.
  • Piran S, Roberts A, Patterson MA, et al. The clinical course of untreated Gaucher disease in 22 patients over 10 years: hematological and skeletal manifestations. Blood Cells Mol Dis. 2009;43(3):289–293.
  • Tanphaichitr VS, Suvatte V, Mahasandana C, et al. Gaucher’s disease; thirty-two years experience at Siriraj Hospital. Southeast Asian J Trop Med Public Health. 1999;30(Suppl. 2):143–147.
  • Weinreb N, Barbouth D, Adkins C, et al. Causes of death (COD) in 184 patients with type 1 Gaucher disease (GD1) from the United States who were never treated with enzyme replacement therapy (ERT). Mol Genet Metab. 2012;105(2):S64.
  • Barczykowski AL, Foss AH, Duffner PK, et al. Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases. Am J Med Genet A. 2012;158A(11):2835–2842.
  • Brautbar A, Abrahamov A, Hadas-Halpern I, et al. Gaucher disease in Arab patients at an Israeli referral clinic. Isr Med Assoc J. 2008;10(8–9):600–602.
  • de Fost M, Vom Dahl S, Weverling GJ, et al. Increased incidence of cancer in adult Gaucher disease in Western Europe. Blood Cells Mol Dis. 2006;36(1):53–58.
  • Fairley C, Zimran A, Phillips M, et al. Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry. J Inherit Metab Dis. 2008;31(6):738–744.
  • Giraldo P, Alfonso P, Atutxa K, et al. Real-world clinical experience with long-term miglustat maintenance therapy in type 1 Gaucher disease: the ZAGAL project. Haematologica. 2009;94(12):1771–1775.
  • Grigorescu-Sido P, Drugan C, Alkhzouz C, et al. Baseline characteristics and outcome in Romanian patients with Gaucher disease type 1. Eur J Intern Med. 2010;21(2):104–113.
  • Ida H, Rennert OM, Ito T, et al. Type 1 Gaucher disease: phenotypic expression and natural history in Japanese patients. Blood Cells Mol Dis 1998;24(1):73–81.
  • Kauli R, Zaizov R, Lazar L, et al. Delayed growth and puberty in patients with Gaucher disease type 1: natural history and effect of splenectomy and/or enzyme replacement therapy. Isr Med Assoc J. 2000;2(2):158–163.
  • Lee NC, Chien YH, Wong SL, et al. Outcome of early-treated type III Gaucher disease patients. Blood Cells Mol Dis. 2014;53(3):105–109.
  • Maaswinkel-Mooij P, Hollak C, van Eysden-Plaisier M, et al. The natural course of Gaucher disease in The Netherlands: implications for monitoring of disease manifestations. J Inherit Metab Dis. 2000;23(1):77–82.
  • Motta I, Filocamo M, Poggiali E, et al. A multicentre observational study for early diagnosis of Gaucher disease in patients with splenomegaly and/or thrombocytopenia. Blood. 2013;122(21):4712.
  • Packman W, Crosbie TW, Behnken M, et al. Living with Gaucher disease: emotional health, psychosocial needs and concerns of individuals with Gaucher disease. Am J Med Genet A. 2010;152A(8):2002–2010.
  • Sobreira E, Pires RF, Cizmarik M, et al. Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world. Mol Genet Metab. 2007;90(1):81–86.
  • Weinreb N, Barranger J, Packman S, et al. Imiglucerase (Cerezyme®) improves quality of life in patients with skeletal manifestations of Gaucher disease. Clin Genet. 2007;71(6):576–588.
  • Weinreb NJ, Deegan P, Kacena KA, et al. Life expectancy in Gaucher disease type 1. Am J Hematol. 2008;83(12):896–900.
  • Weinreb NJ, Goldblatt J, Villalobos J, et al. Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment. J Inherit Metab Dis. 2013;36(3):543–553.
  • Woodfield MJ, Woodfield DG, Winship IM. Clinical and molecular aspects of Gaucher disease in New Zealand. N Z Med J. 1997;110(1050):316–319.
  • Weinreb N, Finegold D, Feingold E, et al. Evaluation of disease burden and response to treatment in adults with type 1 Gaucher disease using a validated disease severity scoring system (DS3). Orphanet J Rare Dis. 2015;10(1):163.
  • InterfaithFamily. Jewish Intermarriage Statistics. 2011; [cited 2016 May 22]. Available from: http://www.interfaithfamily.com/news_and_opinion/synagogues_and_the_jewish_community/Jewish_Intermarriage_Statistics.shtml
  • Damiano AM, Pastores GM, Ware JE Jr. The health-related quality of life of adults with Gaucher's disease receiving enzyme replacement therapy: results from a retrospective study. Qual Life Res. 1998;7(5):373–386.
  • Giraldo P, Solano V, Perez-Calvo JI, et al. Quality of life related to type 1 Gaucher disease: Spanish experience. Qual Life Res. 2005;14(2):453–461.
  • Hayes RP, Grinzaid KA, Duffey EB, et al. The impact of Gaucher disease and its treatment on quality of life. Qual Life Res. 1998;7(6):521–534.
  • Masek BJ, Sims KB, Bove CM, et al. Quality of life assessment in adults with type 1 Gaucher disease. Qual Life Res. 1999;8(3):263–268.
  • Wyatt K, Henley W, Anderson L, et al. The effectiveness and cost-effectiveness of enzyme and substrate replacement therapies: a longitudinal cohort study of people with lysosomal storage disorders. Health Technol Assess. 2012;16(39):1–543.

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