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

Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease

Malte Lenders, PhD 1 Prof. Julia B. Hennermann, MD 2 Christine Elisabeth Kurschat, MD 3 Prof. Arndt Rolfs, MD 4 Sima Canaan-Kühl, MD 5 Prof. Claudia Sommer, MD 6 Prof. Nurcan Üçeyler, MD 6 Christopf Kampmann, MD PhD 2 Nesrin Karabul, MD 2, 7 Anne Katrin Giese, MD 4 Prof. Thomas Duning, MD 1 Prof. Jörg Stypmann, MD 1 Johannes Krämer, MD 6, 8 Frank Weidemann, MD 6, 9 Prof. Stefan-Martin Brand, MD PhD 1 Christoph Wanner, MD 6 Prof. Eva Brand, MD PhD 1
1 University Hospital Muenster 2 University of Mainz 3 University of Cologne 4 University of Rostock 5 Charité-University, Berlin 6 University of Wuerzburg 7 University Children Hospital St. Josef Hospital Bochum 8 University of Ulm 9 Katharinen-Hospital Unna
June 29, 2016

Lenders et al. Orphanet J Rare Dis. 2016 Jun 29

Abstract:

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. 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.

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.

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.