Case of presymptomatic aceruloplasminemia treated with deferasirox

Aceruloplasminemia is an autosomal recessive disease characterized by an abnormal iron metabolism. The absence of ferroxidase activity caused by mutation of ceruloplasmin leads to iron overload in the brain, liver and other organs. We report a 35‐year‐old man who was diagnosed with aceruloplasminemi...

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Bibliographic Details
Published inHepatology research Vol. 44; no. 12; pp. 1253 - 1258
Main Authors Tai, Mayumi, Matsuhashi, Nobuo, Ichii, Osamu, Suzuki, Tomohiro, Ejiri, Yutaka, Kono, Satoshi, Terada, Tatsuhiro, Miyajima, Hiroaki, Harada, Masaru
Format Journal Article
LanguageEnglish
Published Netherlands 01.11.2014
Subjects
aceruloplasminemia
copper
deferasirox
iron
copper
iron
deferasirox
aceruloplasminemia
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Summary:Aceruloplasminemia is an autosomal recessive disease characterized by an abnormal iron metabolism. The absence of ferroxidase activity caused by mutation of ceruloplasmin leads to iron overload in the brain, liver and other organs. We report a 35‐year‐old man who was diagnosed with aceruloplasminemia without neurological manifestation despite the accumulation of iron in the brain and liver. To prevent the development of neurodegenerative disorder related to iron toxicity, iron depletion therapy was performed. Iron chelator deferasirox was effective in reducing serum ferritin level and to prevent the progression of the disease.
ISSN:1386-6346
1872-034X
DOI:10.1111/hepr.12292