Universität zu Köln

Lenders, Malte, Hennermann, Julia B., Kurschat, Christine, Rolfs, Arndt, Canaan-Kuehl, Sima, Sommer, Claudia, Ueceyler, Nurcan, Kampmann, Christoph, Karabul, Nesrin, Giese, Anne-Katrin, Duning, Thomas, Stypmann, Joerg, Kraemer, Johannes, Weidemann, Frank, Brand, Stefan-Martin, Wanner, Christoph and Brand, Eva (2016). Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease. Orphanet J. Rare Dis., 11. LONDON: BMC. ISSN 1750-1172

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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-naive 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-naive females seem to be a marker of disease burden, since patients showed comparable incidences of organ manifestations even if they were similar to 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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Lenders, Malte UNSPECIFIED UNSPECIFIED UNSPECIFIED Hennermann, Julia B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kurschat, Christine UNSPECIFIED UNSPECIFIED UNSPECIFIED Rolfs, Arndt UNSPECIFIED UNSPECIFIED UNSPECIFIED Canaan-Kuehl, Sima UNSPECIFIED UNSPECIFIED UNSPECIFIED Sommer, Claudia UNSPECIFIED UNSPECIFIED UNSPECIFIED Ueceyler, Nurcan UNSPECIFIED UNSPECIFIED UNSPECIFIED Kampmann, Christoph UNSPECIFIED UNSPECIFIED UNSPECIFIED Karabul, Nesrin UNSPECIFIED UNSPECIFIED UNSPECIFIED Giese, Anne-Katrin UNSPECIFIED UNSPECIFIED UNSPECIFIED Duning, Thomas UNSPECIFIED UNSPECIFIED UNSPECIFIED Stypmann, Joerg UNSPECIFIED UNSPECIFIED UNSPECIFIED Kraemer, Johannes UNSPECIFIED UNSPECIFIED UNSPECIFIED Weidemann, Frank UNSPECIFIED UNSPECIFIED UNSPECIFIED Brand, Stefan-Martin UNSPECIFIED UNSPECIFIED UNSPECIFIED Wanner, Christoph UNSPECIFIED UNSPECIFIED UNSPECIFIED Brand, Eva UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-271980
DOI:	10.1186/s13023-016-0473-4
Journal or Publication Title:	Orphanet J. Rare Dis.
Volume:	11
Date:	2016
Publisher:	BMC
Place of Publication:	LONDON
ISSN:	1750-1172
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language ENZYME-REPLACEMENT THERAPY; AGALSIDASE-BETA THERAPY; ALPHA-GALACTOSIDASE; DOSE REDUCTION; CARDIOMYOPATHY; MANAGEMENT; EFFICACY; SAFETY; RECOMMENDATIONS; GUIDELINES Multiple languages Genetics & Heredity; Medicine, Research & Experimental Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/27198