4 research outputs found
Fabry disease: a review of current management strategies
Fabry disease is an X-linked inherited condition due to the absence or reduction
of alpha-galactosidase activity in lysosomes, that results in accumulation of
globotriaosylceramide (Gb3) and related neutral glycosphingolipids.
Manifestations of Fabry disease include serious and progressive impairment of
renal and cardiac function. In addition, patients experience pain,
gastrointestinal disturbance, transient ischaemic attacks and strokes. Additional
effects on the skin, eyes, ears, lungs and bones are often seen. The first
symptoms of classic Fabry disease usually appear in childhood. Despite being
X-linked, females can suffer the same severity of symptoms as males, and life
expectancy is reduced in both females and males. Enzyme replacement therapy (ERT)
can stabilize the progression of the disease. The rarity of the classic form of
Fabry disease, however, means that there is a need to improve the knowledge and
understanding that the majority of physicians have concerning Fabry disease, in
order to avoid misdiagnosis and/or delayed diagnosis. This review aims to raise
awareness of the signs and symptoms of Fabry disease; to provide a general
diagnostic algorithm and to give an overview of the effects of ERT and
concomitant treatments. We highlight a need to develop comprehensive
international guidelines to optimize ERT and adjunctive therapy in patients with
Fabry disease, including females and children