title: Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey).
abstract: BACKGROUND
  Fabry disease is an X linked lysosomal storage disease caused by deficiency of the lysosomal enzyme alpha-galactosidase A. This leads to accumulation of globotriaosylceramide in nearly all tissues, including the blood vessels, kidney, myocardium, and nervous system. Symptoms often begin in childhood and include acroparaesthesia, with burning or tingling pain that spreads from the extremities to more proximal sites.
  
  
  OBJECTIVE
  This study set out to evaluate pain and its influence on quality of life in patients with Fabry disease receiving enzyme replacement therapy (ERT) with agalsidase alfa.
  
  
  METHODS
  Data were obtained from the Fabry Outcome Survey. Pain was measured using the Brief Pain Inventory (BPI), and health-related quality of life (HRQoL) was documented with the European Quality of Life Questionnaire (EQ-5D).
  
  
  RESULTS
  The mean (SD) score for "pain at its worst" on the BPI prior to ERT was 5.1 (2.7). One year after commencement of ERT, this had improved by 0.5, and improved by a further 0.6 after 2 years (p<0.05). Similar statistically significant improvements were seen for "pain on average" and "pain now" after 2 years of ERT. The mean HRQoL utility score prior to ERT was 0.66 (0.32). After 12 months of treatment with agalsidase alfa, this had improved to 0.74 (0.26; p<0.05); this improvement was maintained after 2 years.
  
  
  CONCLUSIONS
  ERT with agalsidase alfa significantly reduces pain and improves quality of life in patients with Fabry disease.
authors.affiliation: Department for General Pediatrics, University Children's Hospital, Heinrich Heine University Düsseldorf, Moorenstr. 5, D-40225 Düsseldorf, Germany. hoffmann@med.uni-duesseldorf.de
authors.forename: B
authors.initials: B
authors.lastname: Hoffmann
authors.forename: A
authors.initials: A
authors.lastname: Garcia de Lorenzo
authors.forename: A
authors.initials: A
authors.lastname: Mehta
authors.forename: M
authors.initials: M
authors.lastname: Beck
authors.forename: U
authors.initials: U
authors.lastname: Widmer
authors.forename: R
authors.initials: R
authors.lastname: Ricci
mesh_terms: D016208:Databases, Factual; D000795:Fabry Disease / Q000175:diagnosis / Q000188:drug therapy*; D005260:Female; D006801:Humans; D007527:Isoenzymes / Q000627:therapeutic use; D008137:Longitudinal Studies; D008297:Male; D010146:Pain / Q000188:drug therapy; D010147:Pain Measurement; D011788:Quality of Life; D011994:Recombinant Proteins; D016896:Treatment Outcome; D000519:alpha-Galactosidase / Q000235:genetics / Q000627:therapeutic use*
chemical_list: D007527:Isoenzymes; D011994:Recombinant Proteins; C000627036:agalsidase alfa; D000519:alpha-Galactosidase
references.citation: J Clin Neurophysiol. 2002 Dec;19(6):575-86
references.pmid: 12488789
references.citation: Z Kardiol. 2002 Oct;91(10):786-95
references.pmid: 12395219
references.citation: Acta Paediatr Suppl. 2002;91(439):15-20
references.pmid: 12572837
references.citation: Acta Paediatr Suppl. 2002;91(439):43-7
references.pmid: 12572842
references.citation: Acta Paediatr Suppl. 2002;91(439):107-12
references.pmid: 12572852
references.citation: Transplantation. 2003 Jul 15;76(1):176-82
references.pmid: 12865806
references.citation: J Med Genet. 2003 Aug;40(8):e103
references.pmid: 12920095
references.citation: Hum Mutat. 2003 Sep;22(3):258
references.pmid: 12938095
references.citation: J Inherit Metab Dis. 2003;26(4):413-4
references.pmid: 12971431
references.citation: Spine J. 2001 Mar-Apr;1(2):95-101
references.pmid: 14588388
references.citation: Muscle Nerve. 2003 Dec;28(6):703-10
references.pmid: 14639584
references.citation: Am J Kidney Dis. 2003 Dec;42(6):1239-47
references.pmid: 14655196
references.citation: J Inherit Metab Dis. 2003;26(7):617-27
references.pmid: 14707510
references.citation: Pain Med. 2003 Dec;4(4):305-7
references.pmid: 14750905
references.citation: Drugs. 2003;63 Spec No 2:47-50
references.pmid: 14758790
references.citation: Pain Med. 2004 Mar;5 Suppl 1:S9-S27
references.pmid: 14996227
references.citation: Eur J Clin Invest. 2004 Mar;34(3):236-42
references.pmid: 15025684
references.citation: J Pain. 2004 Mar;5(2):133-7
references.pmid: 15042521
references.citation: Med Care. 1989 Mar;27(3 Suppl):S148-56
references.pmid: 2646487
references.citation: Ann Acad Med Singapore. 1994 Mar;23(2):129-38
references.pmid: 8080219
references.citation: Public Health Rep. 1994 Sep-Oct;109(5):665-72
references.pmid: 7938388
references.citation: Soc Sci Med. 1994 Dec;39(11):1537-44
references.pmid: 7817218
references.citation: Crit Care Med. 1996 Oct;24(10):1769
references.pmid: 8874318
references.citation: Pain. 1997 Aug;72(1-2):235-43
references.pmid: 9272808
references.citation: Qual Life Res. 1998 Feb;7(2):115-20
references.pmid: 9523492
references.citation: JAMA. 1999 Jan 20;281(3):249-54
references.pmid: 9918480
references.citation: Nature. 1961 Apr 22;190:372-3
references.pmid: 13764598
references.citation: JAMA. 2000 Dec 6;284(21):2771-5
references.pmid: 11105184
references.citation: Lancet. 2001 Jan 13;357(9250):138-40
references.pmid: 11197415
references.citation: Med Care. 2001 Mar;39(3):217-27
references.pmid: 11242317
references.citation: JAMA. 2001 Jun 6;285(21):2743-9
references.pmid: 11386930
references.citation: Pharmacoeconomics. 2001;19(8):855-63
references.pmid: 11596837
references.citation: Contrib Nephrol. 2001;(136):245-50
references.pmid: 11688388
references.citation: J Med Genet. 2001 Nov;38(11):750-60
references.pmid: 11694547
references.citation: J Inherit Metab Dis. 2001;24 Suppl 2:15-7; discussion 11-2
references.pmid: 11758674
references.citation: J Inherit Metab Dis. 2001;24 Suppl 2:71-4; discussion 65
references.pmid: 11758682
references.citation: Qual Life Res. 2001;10(6):479-86
references.pmid: 11789549
references.citation: J Inherit Metab Dis. 2001 Dec;24(7):715-24
references.pmid: 11804208
references.citation: Value Health. 2002 Jan-Feb;5(1):14-25
references.pmid: 11873379
references.citation: Medicine (Baltimore). 2002 Mar;81(2):122-38
references.pmid: 11889412
references.citation: Qual Life Res. 2002 Mar;11(2):127-33
references.pmid: 12018736
references.citation: J Am Soc Nephrol. 2002 Jun;13 Suppl 2:S144-6
references.pmid: 12068027
references.citation: J Am Soc Nephrol. 2002 Jun;13 Suppl 2:S147-9
references.pmid: 12068028
references.citation: Qual Life Res. 2002 Jun;11(4):317-27
references.pmid: 12086117
references.citation: Z Kardiol. 2002 Dec;91(12):992-1002
references.pmid: 12490989