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dc.contributor.authorReisin, Ricardo
dc.contributor.authorPerrin, Amandine
dc.contributor.authorGarcía Pavía, Pablo
dc.description.abstractABSTRACT Background: The high variability in clinical manifestations of Fabry disease can lead to delays between symptom onset and correct diagnosis, and between correct diagnosis and initiation of enzyme replacement therapy. We investigated whether these delays have improved in recent years. Methods: Data were analyzed from the Fabry Outcome Survey (FOS; Shire; extracted August 2013) for “index patients”, defined as the first patient diagnosed with Fabry disease from a family with several or no additional members registered in FOS. Results: Periods analyzed: 2001–2006 versus 2007–2013, in patients overall and from Europe versus the rest of the world (ROW). Overall, 598 patients were diagnosed within the study periods. Median age (95% CI) at symptom onset in 2001–2006 and 2007–2013 was 7.0 (5.0–11.0) and 9.0 (6.0–11.0) in children, and 21.0 (15.0–28.0) and 31.0 (26.0–35.0) in adults, respectively. Overall, the delay in diagnosis did not improve, despite showing a trend towards earlier diagnosis in adults (median 14.0 [95% CI 9.0–20.0] vs. 10.5 [8.0–13.0] years) and children (5.0 [1.0–9.0] vs. 4.0 [0.0–8.0] years). In contrast, the delay in treatment onset significantly decreased from 2001–2006 to 2007–2013 in children (4.3 [2.0–7.0] vs. 1.0 [0.8–1.4] year; p < 0.001) and adults (2.1 [1.3–3.2] vs. 0.9 [0.8–1.1] years; p < 0.001). Geographically, the delay in treatment onset significantly decreased in the ROW among children (5.3 [4.2–8.0] vs. 1.0 [0.8–1.4] year; p < 0.001) and adults (5.4 [4.8–6.0] vs. 1.1 [0.9–1.1] year; p < 0.001), but it did not change in Europe. Conclusion: We found that the delay in diagnosis has not improved substantially whereas the delay in treatment onset has improved in recent
dc.publisherThe International Journal of Clinical Practicespa
dc.rightsAtribución-NoComercial-SinDerivadas 3.0 España*
dc.titleTime delays in the diagnosis and treatment of Fabry diseasespa
dc.description.extent519 KBspa

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