Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey).
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.
Hoffmann
B
B
Department for General Pediatrics, University Children's Hospital, Heinrich Heine University Düsseldorf, Moorenstr. 5, D-40225 Düsseldorf, Germany. hoffmann@med.uni-duesseldorf.de
Garcia de Lorenzo
A
A
Mehta
A
A
Beck
M
M
Widmer
U
U
Ricci
R
R
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*
D007527:Isoenzymes; D011994:Recombinant Proteins; C000627036:agalsidase alfa; D000519:alpha-Galactosidase
J Clin Neurophysiol. 2002 Dec;19(6):575-86
12488789
Z Kardiol. 2002 Oct;91(10):786-95
12395219
Acta Paediatr Suppl. 2002;91(439):15-20
12572837
Acta Paediatr Suppl. 2002;91(439):43-7
12572842
Acta Paediatr Suppl. 2002;91(439):107-12
12572852
Transplantation. 2003 Jul 15;76(1):176-82
12865806
J Med Genet. 2003 Aug;40(8):e103
12920095
Hum Mutat. 2003 Sep;22(3):258
12938095
J Inherit Metab Dis. 2003;26(4):413-4
12971431
Spine J. 2001 Mar-Apr;1(2):95-101
14588388
Muscle Nerve. 2003 Dec;28(6):703-10
14639584
Am J Kidney Dis. 2003 Dec;42(6):1239-47
14655196
J Inherit Metab Dis. 2003;26(7):617-27
14707510
Pain Med. 2003 Dec;4(4):305-7
14750905
Drugs. 2003;63 Spec No 2:47-50
14758790
Pain Med. 2004 Mar;5 Suppl 1:S9-S27
14996227
Eur J Clin Invest. 2004 Mar;34(3):236-42
15025684
J Pain. 2004 Mar;5(2):133-7
15042521
Med Care. 1989 Mar;27(3 Suppl):S148-56
2646487
Ann Acad Med Singapore. 1994 Mar;23(2):129-38
8080219
Public Health Rep. 1994 Sep-Oct;109(5):665-72
7938388
Soc Sci Med. 1994 Dec;39(11):1537-44
7817218
Crit Care Med. 1996 Oct;24(10):1769
8874318
Pain. 1997 Aug;72(1-2):235-43
9272808
Qual Life Res. 1998 Feb;7(2):115-20
9523492
JAMA. 1999 Jan 20;281(3):249-54
9918480
Nature. 1961 Apr 22;190:372-3
13764598
JAMA. 2000 Dec 6;284(21):2771-5
11105184
Lancet. 2001 Jan 13;357(9250):138-40
11197415
Med Care. 2001 Mar;39(3):217-27
11242317
JAMA. 2001 Jun 6;285(21):2743-9
11386930
Pharmacoeconomics. 2001;19(8):855-63
11596837
Contrib Nephrol. 2001;(136):245-50
11688388
J Med Genet. 2001 Nov;38(11):750-60
11694547
J Inherit Metab Dis. 2001;24 Suppl 2:15-7; discussion 11-2
11758674
J Inherit Metab Dis. 2001;24 Suppl 2:71-4; discussion 65
11758682
Qual Life Res. 2001;10(6):479-86
11789549
J Inherit Metab Dis. 2001 Dec;24(7):715-24
11804208
Value Health. 2002 Jan-Feb;5(1):14-25
11873379
Medicine (Baltimore). 2002 Mar;81(2):122-38
11889412
Qual Life Res. 2002 Mar;11(2):127-33
12018736
J Am Soc Nephrol. 2002 Jun;13 Suppl 2:S144-6
12068027
J Am Soc Nephrol. 2002 Jun;13 Suppl 2:S147-9
12068028
Qual Life Res. 2002 Jun;11(4):317-27
12086117
Z Kardiol. 2002 Dec;91(12):992-1002
12490989