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

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 im

SUBMITTER: Lenders M 

PROVIDER: S-EPMC4928260 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature