Fabry disease phenotyping in women from the complete Romanian cohort – time for early diagnostic awareness

Abstract

Fabry disease (FD) is an X-linked rare disorder caused by mutations in the GLA gene. Women with FD have been less enrolled in studies and less treated compared with men. The aim of the present study is to describe the complete phenotype of the women cohort with FD diagnosed and evaluated in Romania and compare it to the male population.

Keywords

• fabry disease
• women
• heart failure
• enzyme replacement therapy
• gender