title: The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK.
abstract: BACKGROUND
  Mucopolysaccharidosis type I (MPS I) is a rare lysosomal storage disease subdivided into three phenotypes of increasing severity: Scheie, Hurler-Scheie and Hurler. To gauge the effectiveness of treatments and to determine the load likely to fall on health-care systems, it is necessary to understand the prevalence and natural progression of the disease especially with regard to life-expectancy. In general such data on the natural history of lysosomal storage diseases is sparse.
  
  
  METHODS
  Analysis of prevalence and patient survival in MPS I disease using a unique longitudinal data set initiated and maintained over a period of more than 20 years by the Society for Mucopolysaccharide Diseases (UK).
  
  
  RESULTS
  The birth prevalence of MPS I in England and Wales over the period 1981 to 2003 was 1.07/100,000 births and within +/- 5% of estimates reported in several studies that examined reasonably large populations. The median survival for MPS I patients (including all phenotypes irrespective of various treatments) was found by Kaplan-Meier analysis to be 11.6 years. This result was driven by the relatively poor survival of patients with the Hurler phenotype who, irrespective of any treatments received, had a median survival of 8.7 years; when censoring for receipt of bone marrow transplant (BMT) was implemented median survival of Hurler patients was diminished to 6.8 years. The difference between these survival curves was statistically significant by log rank test and can be attributed to beneficial effects of BMT and or selection of patients with superior prognosis for intervention with BMT. Survival curves for Hurler patients who received and did not receive BMT were very different. Probability of survival at 2 year after BMT was ~68% and was similar to this after 5 years (66%) and ten years (64%); the mean age of Hurler patients at receipt of BMT was 1.33 years (range 0.1 to 3 years). Follow up was insufficient to determine median survival of the milder phenotypes however, unsurprisingly, this was clearly superior to that for Hurler patients.
  
  
  CONCLUSIONS
  The birth prevalence of MPS I in England and Wales is 1.07/100,000 and the median survival for MPS I patients is 11.6 years.
authors.affiliation: Department of Public Health and Epidemiology, University of Birmingham, Birmingham, UK. d.j.moore@bham.ac.uk
authors.forename: David
authors.initials: D
authors.lastname: Moore
authors.forename: Martin J
authors.initials: MJ
authors.lastname: Connock
authors.forename: Ed
authors.initials: E
authors.lastname: Wraith
authors.forename: Christine
authors.initials: C
authors.lastname: Lavery
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003710:Demography; D004739:England / Q000453:epidemiology; D006801:Humans; D053208:Kaplan-Meier Estimate; D008059:Mucopolysaccharidosis I / Q000453:epidemiology* / Q000401:mortality* / Q000503:physiopathology; D010641:Phenotype; D015995:Prevalence; D012042:Registries; D012955:Societies, Medical; D014852:Wales / Q000453:epidemiology
references.citation: J Inherit Metab Dis. 2005;28(6):1011-7
references.pmid: 16435194
references.citation: Arch Intern Med. 2006 Oct 9;166(18):1938-42
references.pmid: 17030825
references.citation: Bone Marrow Transplant. 2007 Aug;40(3):225-33
references.pmid: 17529997
references.citation: Am J Med Genet A. 2003 Dec 15;123A(3):310-3
references.pmid: 14608657
references.citation: BMJ. 2005 Oct 29;331(7523):1016-9
references.pmid: 16254305
references.citation: J Med Genet. 1998 May;35(5):366-70
references.pmid: 9610798
references.citation: Hum Genet. 1999 Jul-Aug;105(1-2):151-6
references.pmid: 10480370
references.citation: Health Technol Assess. 2006 Jul;10(24):iii-iv, ix-136
references.pmid: 16796930
references.citation: BMJ. 2005 Oct 29;331(7523):1019-21
references.pmid: 16254306
references.citation: Hum Genet. 1990 Aug;85(3):389-90
references.pmid: 2118475
references.citation: Mol Genet Metab. 2007 May;91(1):37-47
references.pmid: 17336562
references.citation: Pediatrics. 2007 Jul;120(1):e37-46
references.pmid: 17606547
references.citation: Hum Genet. 1997 Dec;101(3):355-8
references.pmid: 9439667
references.citation: N Engl J Med. 1971 Jan 28;284(4):221-2
references.pmid: 4250044
references.citation: JAMA. 1999 Jan 20;281(3):249-54
references.pmid: 9918480