Impact of enzyme replacement therapy on clinical manifestations in females with Fabry disease.

ABSTRACT:

Background

The aim of our multicenter study was to investigate the implementation of the European Fabry guidelines on therapeutic recommendations in female patients with Fabry disease (FD) and to analyze the impact of enzyme replacement therapy (ERT) in treated and untreated females.

Results

Data from 3 consecutive visits of 159 female FD patients from 6 Fabry centers were retrospectively analyzed. According to their treatment, patients were separated in 3 groups (untreated, n = 71; newly ERT-treated, n = 47; long-term ERT-treated, n = 41). Clinical presentation and laboratory data, including plasma globotriaosylsphingosine (lyso-Gb₃) levels were assessed. The observation time ranged from 49 to 62 months. ∼90% of female patients treated with ERT presented with at

SUBMITTER: Lenders M 

PROVIDER: S-EPMC11673826 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature