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[Management of Fabry disease].

Authors
  • Constantin, Tamás
  • Székely, Annamária
  • Ponyi, Andrea
  • Gulácsy, Vera
  • Ambrus, Csaba
  • Kádár, Krisztina
  • Vastagh, Ildikó
  • Dajnoki, Angéla
  • Tóth, Beáta
  • Bokrétás, Gergely
  • Müller, Veronika
  • Katona, Mária
  • Medvecz, Márta
  • Fiedler, Orsolya
  • Széchey, Rita
  • Varga, Edit
  • Rudas, Gábor
  • Kertész, Attila
  • Molnár, Sándor
  • Kárpáti, Sarolta
  • And 10 more
Type
Published Article
Journal
Orvosi hetilap
Publication Date
Aug 01, 2010
Volume
151
Issue
31
Pages
1243–1251
Identifiers
DOI: 10.1556/OH.2010.28796
PMID: 20656661
Source
Medline
License
Unknown

Abstract

Fabry disease is a rare, X-linked lysosomal storage disorder that leads to accumulation of globotriaosylceramide in different tissues of the body. The disease is progressive and the first symptoms usually present in childhood. Consequences of the disease are disability and premature death. The disease in females could be as severe as in males although women may be asymptomatic. The possibility of enzyme replacement therapy has made it necessary to elaborate a comprehensive guideline for the diagnosis and treatment follow-up. The guideline has been summarized by a Hungarian multi-disciplinary working group consisting of physicians who are involved in diagnosis and care of Fabry patients. Previous clinical studies, published articles, and recently established international treatment guidelines were reviewed by the group.

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