The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy

Anderson–Fabry disease (AFD) is an X‐linked disorder caused by deficient activity of the lysosomal enzyme α‐galactosidase A. The availability of enzyme replacement therapy (ERT) for this debilitating condition has led to the need for a convenient and sensitive instrument to monitor clinical effects...

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Bibliographic Details
Published in:Clinical genetics 2004-04, Vol.65 (4), p.299-307
Main Authors: Whybra, C, Kampmann, C, Krummenauer, F, Ries, M, Mengel, E, Miebach, E, Baehner, F, Kim, K, Bajbouj, M, Schwarting, A, Gal, A, Beck, M
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
alpha-Galactosidase - therapeutic use
Anderson-Fabry disease
Biological and medical sciences
Case-Control Studies
Child
Child, Preschool
Disease Management
Drug Monitoring
enzyme replacement therapy
Errors of metabolism
Fabry Disease - diagnosis
Fabry Disease - drug therapy
Female
Heterozygote
Humans
Infant
Isoenzymes - therapeutic use
Lipids (lysosomal enzyme disorders, storage diseases)
Mainz Severity Score Index
Male
Medical sciences
Metabolic diseases
Middle Aged
Phenotype
Severity of Illness Index
Sex Factors
Treatment Outcome
α-galactosidase A
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Summary:Anderson–Fabry disease (AFD) is an X‐linked disorder caused by deficient activity of the lysosomal enzyme α‐galactosidase A. The availability of enzyme replacement therapy (ERT) for this debilitating condition has led to the need for a convenient and sensitive instrument to monitor clinical effects in an individual patient. This study aimed to develop a scoring system – the Mainz Severity Score Index (MSSI) – to measure the severity of AFD and to monitor the clinical course of the disease in response to ERT. Thirty‐nine patients (24 males and 15 females) with AFD were assessed using the MSSI immediately before and 1 year after commencing agalsidase alfa ERT. Control data were obtained from 23 patients in whom AFD was excluded. The MSSI of patients with AFD was significantly higher than that of patients with other severe debilitating diseases. The MSSI indicated that, although more men than women had symptoms classified as severe, overall, the median total severity scores were not significantly different between male and female patients. One year of ERT with agalsidase alfa led, in all patients, to a significant (p 
ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.2004.00219.x