Natural course of Fabry disease: changing pattern of causes of death in FOS – the Fabry Outcome Survey

Atul Mehta (1) , Joe T R Clarke (2) , Roberto Giugliani (3) , Perry Elliott (4) , Ales Linhart (5) , Michael Beck (6) , Gere Sunder-Plassman (7)

1 Royal Free Hospital [London, UK]
2 Hospital for Sick Children, Toronto
3 HCPA - Hospital de Clínicas de Porto Alegre
4 The Heart Hospital [London]
5 UK - Univerzita Karlova [Praha, Česká republika] = Charles University [Prague, Czech Republic]
6 University of Mainz
7 Medizinische Universität Wien = Medical University of Vienna

Fabry disease is a rare X-linked lysosomal storage disorder characterized by severe multisystemic involvement that leads to major organ failure and premature death in affected men and women. Over the past 7 years, the Fabry Outcome Survey (FOS) has collected data on the natural history of Fabry disease and the long-term efficacy and safety of enzyme replacement therapy. This paper provides an update since the first analysis of FOS data.

Mots clés: Lipid disorders; Metabolic disorders; Genetic epidemiology

Atul Mehta, Joe T R Clarke, Roberto Giugliani, Perry Elliott, Ales Linhart, et al.. Natural course of Fabry disease: changing pattern of causes of death in FOS – the Fabry Outcome Survey. Journal of Medical Genetics, 2009, 46 (8), pp.548. ⟨10.1136/jmg.2008.065904⟩. ⟨hal-00552689⟩