Title |
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease
|
---|---|
Published in |
Orphanet Journal of Rare Diseases, June 2016
|
DOI | 10.1186/s13023-016-0473-4 |
Pubmed ID | |
Authors |
Malte Lenders, Julia B. Hennermann, Christine Kurschat, Arndt Rolfs, Sima Canaan-Kühl, Claudia Sommer, Nurcan Üçeyler, Christoph Kampmann, Nesrin Karabul, Anne-Katrin Giese, Thomas Duning, Jörg Stypmann, Johannes Krämer, Frank Weidemann, Stefan-Martin Brand, Christoph Wanner, Eva Brand |
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. 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. 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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 20% |
United Kingdom | 1 | 20% |
Unknown | 3 | 60% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 3 | 60% |
Scientists | 1 | 20% |
Science communicators (journalists, bloggers, editors) | 1 | 20% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 49 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 8 | 16% |
Student > Bachelor | 6 | 12% |
Other | 4 | 8% |
Student > Postgraduate | 4 | 8% |
Student > Master | 4 | 8% |
Other | 9 | 18% |
Unknown | 14 | 29% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 16 | 33% |
Biochemistry, Genetics and Molecular Biology | 6 | 12% |
Pharmacology, Toxicology and Pharmaceutical Science | 4 | 8% |
Nursing and Health Professions | 2 | 4% |
Agricultural and Biological Sciences | 1 | 2% |
Other | 6 | 12% |
Unknown | 14 | 29% |