Background: Fabry disease is a rare X-linked lysosomal storage disorder characterised 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 on the first analysis of FOS data.
Design: Baseline data on clinical manifestations and causes of death in a cohort of 1453 patients (699 male, 754 female) from 19 countries worldwide were analysed. Causes of death of affected relatives were analysed separately.
Results: The most frequently reported signs and symptoms of Fabry disease were neurological. Cardiac, ocular, gastrointestinal, dermatological, auditory and renal manifestations were also common. The principal causes of death among 181 affected relatives of patients in FOS (most of whom had died before 2001) were renal failure in males (42%) and cerebrovascular disease in females (25%). In contrast, of the 42 patients enrolled in FOS whose deaths were reported between 2001 and 2007, cardiac disease was the main cause of death in both male (34%) and female (57%) patients.
Conclusion: These data suggest that the importance of renal disease as a cause of death in patients with Fabry disease is decreasing while the importance of cardiac disease is increasing. This pattern probably reflects improvements in the management of renal disease in patients with Fabry disease.
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▸ An appendix is available online only at http://jmg.bmj.com/content/vol46/issue8
Funding: Data collection and analysis in FOS are supported by Shire Human Genetic Therapies (HGT), Danderyd, Sweden. The sponsor had no role in the interpretation of data or writing of the report.
Competing interests: AM received speaker fees, research funds and funding for symposium attendance from Shire HGT; JTRC received funding for symposium attendance from Shire HGT; RG received speaker fees and funding for symposium attendance from Shire HGT; PE received speaker fees, funding for symposium attendance and unrestricted educational grants from Shire HGT; AL and GSP received speaker fees, travel grants and research support from both Shire HGT and Genzyme; MB received speaker fees, funding for symposium attendance and unrestricted scientific grants from Shire HGT, Genzyme and Biomarin. Honoraria were not paid in relation to FOS data entry or for the writing of this report.