The Mainz Severity Score Index (MSSI): development and validation of a system for scoring the signs and symptoms of Fabry disease.

Abstract

UNLABELLED:

Fabry disease is a rare lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme alpha-galactosidase A. The resultant storage of undegraded glycolipids leads to the progressive development of potentially life-threatening manifestations affecting multiple organ systems in the body. This paper describes the development of the Mainz Severity Score Index (MSSI), a scoring system for patients with Fabry disease.

CONCLUSION:

The MSSI score has been proven to be representative in patients with 'classic' Fabry disease and may be useful for monitoring clinical improvement in patients receiving enzyme replacement therapy.

• Authors: Michael Beck
• Journal: Acta paediatrica (Oslo, Norway : 1992). Supplement (Acta Paediatr Suppl) Vol. 95 Issue 451 Pg. 43-6 (Apr 2006) ISSN: 0803-5326 [Print] Norway
• PMID: 16720464 (Publication Type: Journal Article)

Topics

• Comorbidity
• Fabry Disease (diagnosis, drug therapy, epidemiology)
• Female
• Humans
• Male
• Severity of Illness Index