Fabry disease exhibiting recurrent stroke and persistent inflammation

Intern Med. 2010;49(20):2247-52. doi: 10.2169/internalmedicine.49.3724. Epub 2010 Oct 15.

Abstract

We describe two cases of Fabry disease in non-blood-related Japanese men, manifesting recurrent stroke even after the start of enzyme replacement therapy. Both exhibited chronic inflammation and ocular involvement with elevated levels of serum C reactive protein prior to the onset of stroke. We, therefore, suggest the association among persistent inflammation, ocular involvement and recurrent stroke in a certain subset of Fabry disease patients. Both cases received enzyme replacement therapy with no improvement in inflammatory signs or laboratory data. These cases suggest that Fabry disease should be considered in young patients with cryptogenic stroke or CNS manifestations and fever of unknown origin.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Biomarkers
  • C-Reactive Protein / analysis
  • Cerebral Infarction / etiology*
  • Enzyme Replacement Therapy
  • Fabry Disease / complications*
  • Fabry Disease / drug therapy
  • Fabry Disease / genetics
  • Fever / etiology
  • Humans
  • Inflammation / blood
  • Inflammation / etiology*
  • Male
  • Mutation, Missense
  • Recombinant Proteins / therapeutic use
  • Recurrence
  • Retinal Artery Occlusion / etiology
  • Retinal Diseases / etiology
  • Young Adult
  • alpha-Galactosidase / genetics
  • alpha-Galactosidase / therapeutic use

Substances

  • Biomarkers
  • Recombinant Proteins
  • C-Reactive Protein
  • alpha-Galactosidase