title: Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.
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.
authors.affiliation: Internal Medicine D, Department of Nephrology, Hypertension and Rheumatology, University Hospital Muenster, Albert-Schweitzer-Campus 1, D-48149, Muenster, Germany.
authors.forename: Malte
authors.initials: M
authors.lastname: Lenders
authors.affiliation: Villa Metabolica, Department for Pediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany.
authors.forename: Julia B
authors.initials: JB
authors.lastname: Hennermann
authors.affiliation: Department II of Internal Medicine and center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.
authors.forename: Christine
authors.initials: C
authors.lastname: Kurschat
authors.affiliation: Albrecht-Kossel-Institute for Neuroregeneration, University of Rostock, Rostock, Germany.
authors.forename: Arndt
authors.initials: A
authors.lastname: Rolfs
authors.affiliation: Department of Medicine, Division of Nephrology, University Hospital Charité, Campus Virchow-Klinikum, Berlin, Germany.
authors.forename: Sima
authors.initials: S
authors.lastname: Canaan-Kühl
authors.affiliation: Department of Neurology, University of Wuerzburg, Wuerzburg, Germany.|Department of Medicine, Divisions of Cardiology and Nephrology, Comprehensive Heart Failure Center, Fabry Center for Interdisciplinary Therapy (FAZIT), University of Wuerzburg, Wuerzburg, Germany.
authors.forename: Claudia
authors.initials: C
authors.lastname: Sommer
authors.affiliation: Department of Neurology, University of Wuerzburg, Wuerzburg, Germany.|Department of Medicine, Divisions of Cardiology and Nephrology, Comprehensive Heart Failure Center, Fabry Center for Interdisciplinary Therapy (FAZIT), University of Wuerzburg, Wuerzburg, Germany.
authors.forename: Nurcan
authors.initials: N
authors.lastname: Üçeyler
authors.affiliation: Villa Metabolica, Department for Pediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany.
authors.forename: Christoph
authors.initials: C
authors.lastname: Kampmann
authors.affiliation: Villa Metabolica, Department for Pediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany.|Department of Neuropediatrics and Inborn Metabolic Disorders, Centre for Rare Diseases, University Children's Hospital, St. Josefs-Hospital, Bochum, Germany.
authors.forename: Nesrin
authors.initials: N
authors.lastname: Karabul
authors.affiliation: Albrecht-Kossel-Institute for Neuroregeneration, University of Rostock, Rostock, Germany.
authors.forename: Anne-Katrin
authors.initials: AK
authors.lastname: Giese
authors.affiliation: Department of Neurology, University Hospital Muenster, Muenster, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Duning
authors.affiliation: Department of Cardiovascular Medicine, Division of Cardiology, University Hospital Muenster, Muenster, Germany.
authors.forename: Jörg
authors.initials: J
authors.lastname: Stypmann
authors.affiliation: Department of Medicine, Divisions of Cardiology and Nephrology, Comprehensive Heart Failure Center, Fabry Center for Interdisciplinary Therapy (FAZIT), University of Wuerzburg, Wuerzburg, Germany.|Department of Pediatrics and Adolescence Medicine, University of Ulm, Ulm, Germany.
authors.forename: Johannes
authors.initials: J
authors.lastname: Krämer
authors.affiliation: Department of Medicine, Divisions of Cardiology and Nephrology, Comprehensive Heart Failure Center, Fabry Center for Interdisciplinary Therapy (FAZIT), University of Wuerzburg, Wuerzburg, Germany.|Katharinen-Hospital Unna, Unna, Germany.
authors.forename: Frank
authors.initials: F
authors.lastname: Weidemann
authors.affiliation: Institute of Sports Medicine, Molecular Genetics of Cardiovascular Disease, University Hospital Muenster, Muenster, Germany.
authors.forename: Stefan-Martin
authors.initials: SM
authors.lastname: Brand
authors.affiliation: Department of Medicine, Divisions of Cardiology and Nephrology, Comprehensive Heart Failure Center, Fabry Center for Interdisciplinary Therapy (FAZIT), University of Wuerzburg, Wuerzburg, Germany.
authors.forename: Christoph
authors.initials: C
authors.lastname: Wanner
authors.affiliation: Internal Medicine D, Department of Nephrology, Hypertension and Rheumatology, University Hospital Muenster, Albert-Schweitzer-Campus 1, D-48149, Muenster, Germany. Eva.Brand@ukmuenster.de.
authors.forename: Eva
authors.initials: E
authors.lastname: Brand
mesh_terms: D000328:Adult; D000368:Aged; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000097:blood* / Q000188:drug therapy* / Q000473:pathology; D005260:Female; D006017:Glycolipids / Q000097:blood; D006801:Humans; D008875:Middle Aged; D012189:Retrospective Studies; D013107:Sphingolipids / Q000097:blood
chemical_list: D006017:Glycolipids; D013107:Sphingolipids; C063288:globotriaosyl lysosphingolipid
keywords: Enzyme replacement therapy; Fabry disease; Females; Guidelines; Lyso-Gb3