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Mol Genet Metab. 2018 Feb;123(2):154-158. doi: 10.1016/j.ymgme.2017.10.001. Epub 2017 Oct 5.

The utility of the FIPI score in predicting long-term clinical outcomes in patients with Fabry disease receiving enzyme replacement therapy with agalsidase alfa.

Author information

1
University College London Medical School, London, United Kingdom.
2
Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust, University College London, London, United Kingdom.
3
Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust, University College London, London, United Kingdom. Electronic address: rmgvdah@ucl.ac.uk.

Abstract

Fabry disease is a rare X-linked lysosomal storage disorder in which there is deficiency of alpha galactosidase A. Enzyme replacement therapy (ERT) is commercially available and has been demonstrated to improve cardiac and renal outcomes. Predictive scores, such as the Fabry International Prognostic Index (FIPI), have been developed to stratify disease severity; however, these have not been validated to predict outcomes in patients receiving ERT. We show that the FIPI score at baseline can predict outcomes in a group of patients on long-term ERT.

KEYWORDS:

Agalsidase alfa; Alpha galactosidase A; Enzyme replacement therapy; Fabry disease; Long-term effectiveness

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