BACKGROUND: Fabry disease (FD) is a rare X-linked lysosomal storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of various organs. DESIGN: Being X-chromosomal-linked, most studies in the past have focused on involvement in male patients. However, it has been elucidated recently that female patients can present typical organ involvement and thus need to be treated, respectively. CONCLUSIONS: This review wants to give a systematical overview of the typical organ involvement in female patients with FD. Moreover, therapy recommendations especially for female patients are discussed.
BACKGROUND:Fabry disease (FD) is a rare X-linked lysosomal storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of various organs. DESIGN: Being X-chromosomal-linked, most studies in the past have focused on involvement in male patients. However, it has been elucidated recently that female patients can present typical organ involvement and thus need to be treated, respectively. CONCLUSIONS: This review wants to give a systematical overview of the typical organ involvement in female patients with FD. Moreover, therapy recommendations especially for female patients are discussed.
Authors: Derralynn A Hughes; Patricio Aguiar; Patrick B Deegan; Fatih Ezgu; Andrea Frustaci; Olivier Lidove; Aleš Linhart; Jean-Claude Lubanda; James C Moon; Kathleen Nicholls; Dau-Ming Niu; Albina Nowak; Uma Ramaswami; Ricardo Reisin; Paula Rozenfeld; Raphael Schiffmann; Einar Svarstad; Mark Thomas; Roser Torra; Bojan Vujkovac; David G Warnock; Michael L West; Jack Johnson; Mark J Rolfe; Sandro Feriozzi Journal: BMJ Open Date: 2020-10-10 Impact factor: 2.692