Imaging features of Fabry disease

Olivier Lidove, Isabelle Klein, Jean Daniel Lelièvre, Philippa Lavallée, Jean Michel Serfaty, Emmanuel Dupuis, Thomas Papo, Jean Pierre Laissy

Research output: Contribution to journalArticlepeer-review

Abstract

OBJECTIVE. Our objective was to describe the various imaging patterns of Fabry disease, including cerebrovascular, renal, cardiac, and other organ involvement. Fabry disease, an X-linked inborn error of glycosphingolipid catabolism resulting from a deficient activity of the hydrolase α-galactosidase A, displays more complications in men than in heterozygous women. CONCLUSION. It is up to radiologists to evoke the diagnosis, help practitioners in treating patients early with enzyme replacement therapy, and monitor its efficacy.

Original languageEnglish (US)
Pages (from-to)1184-1191
Number of pages8
JournalAmerican Journal of Roentgenology
Volume186
Issue number4
DOIs
StatePublished - Apr 2006
Externally publishedYes

Keywords

  • Brain
  • Cardiovascular disease
  • Fabry disease
  • Genetics
  • Renal disease

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology

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