Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease. Issue 1 (December 2016)

• Record Type: Journal Article
• Authors: Lenders, Malte; Hennermann, Julia; Kurschat, Christine; Rolfs, Arndt; Canaan-Kühl, Sima; Sommer, Claudia; Üçeyler, Nurcan; Kampmann, Christoph; Karabul, Nesrin; Giese, Anne-Katrin; Duning, Thomas; Stypmann, Jörg; Krämer, Johannes; Weidemann, Frank; Brand, Stefan-Martin; Wanner, Christoph; Brand, Eva
• Is Part Of: Orphanet journal of rare diseases. Volume 11:Issue 1(2016)
• Page Start: 1
• Page End: 11
• Publication Date: 2016-12
• Subjects: Fabry disease -- Females -- Lyso-Gb3 -- Enzyme replacement therapy -- Guidelines; Rare diseases -- Periodicals; Genetic disorders -- Periodicals; Orphan drugs -- Periodicals; 616
• DOI: 10.1186/s13023-016-0473-4
• Languages: English
• ISSNs: 1750-1172

Abstract

Abstract Background The aim of the present study was to assess manifestations of and applied treatment concepts for females with Fabry disease (FD) according to the current European Fabry Guidelines. Methods Between 10/2008 and 12/2014, data from the most recent visit of 261 adult female FD patients from six German Fabry centers were retrospectively analyzed. Clinical presentation and laboratory data, including plasma lyso-Gb3 levels were assessed. Results Fifty-five percent of females were on enzyme replacement therapy (ERT), according to recent European FD guidelines. Thirty-three percent of females were untreated although criteria for ERT initiation were fulfilled. In general, the presence of left ventricular hypertrophy (LVH) seemed to impact more on ERT initiation than impaired renal function. In ERT-naïve females RAAS blockers were more often prescribed if LVH was present rather than albuminuria. Affected females with missense mutations showed a similar disease burden compared to females with nonsense mutations. Elevated plasma lyso-Gb3 levels in ERT-naïve females seem to be a marker of disease burden, since patients showed comparable incidences of organ manifestations even if they were ~8 years younger than females with normal lyso-Gb3 levels. Conclusion The treatment of the majority of females with FD in Germany is in line with the current European FD guidelines. However, a relevant number of females remain untreated despite organ involvement, necessitating a careful reevaluation of these females.