Fabry disease: a review of current management strategies

Claudio Feliciani, A Mehta, M Beck, F Eyskens, I Kantola, U Ramaswami, A Rolfs, A Rivera, S Waldek, Dp Germain

Risultato della ricerca: Contributo in rivistaArticolo in rivista

125 Citazioni (Scopus)

Abstract

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.
Lingua originaleEnglish
pagine (da-a)641-659
Numero di pagine19
RivistaQJM-AN INTERNATIONAL JOURNAL OF MEDICINE
Volume103
DOI
Stato di pubblicazionePubblicato - 2010
Pubblicato esternamente

Keywords

  • Child
  • Clinical Trials as Topic
  • Disease Progression
  • Enzyme Replacement Therapy
  • Fabry Disease
  • Female
  • Humans
  • Male
  • Sex Factors
  • Treatment Outcome

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