Fabry disease exhibiting recurrent stroke and persistent inflammation.
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.
Kikumoto
Yoko
Y
Department of Medicine and Clinical Science, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences.
Kai
Yasufumi
Y
Morinaga
Hiroshi
H
Iga-Murahashi
Mutsunori
M
Matsuyama
Mikitaro
M
Sasaki
Takashi
T
Maruyama
Hiroki
H
Shimotori
Masaaki
M
Makino
Hirofumi
H
Sugiyama
Hitoshi
H
Okayama
Akihiko
A
D000328:Adult; D015415:Biomarkers; D002097:C-Reactive Protein / Q000032:analysis; D002544:Cerebral Infarction / Q000209:etiology*; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D005334:Fever / Q000209:etiology; D006801:Humans; D007249:Inflammation / Q000097:blood / Q000209:etiology*; D008297:Male; D020125:Mutation, Missense; D011994:Recombinant Proteins / Q000627:therapeutic use; D012008:Recurrence; D015356:Retinal Artery Occlusion / Q000209:etiology; D012164:Retinal Diseases / Q000209:etiology; D055815:Young Adult; D000519:alpha-Galactosidase / Q000235:genetics / Q000627:therapeutic use
D015415:Biomarkers; D011994:Recombinant Proteins; D002097:C-Reactive Protein; D000519:alpha-Galactosidase