title: Case of presymptomatic aceruloplasminemia treated with deferasirox.
abstract: 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.
authors.affiliation: Department of Gastroenterology, Fukushima Rosai Hospital, Iwaki, Japan; The Third Department of Internal Medicine, University of Occupational and Environmental Health, Kitakyushu, Japan.
authors.forename: Mayumi
authors.initials: M
authors.lastname: Tai
authors.forename: Nobuo
authors.initials: N
authors.lastname: Matsuhashi
authors.forename: Osamu
authors.initials: O
authors.lastname: Ichii
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Suzuki
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Ejiri
authors.forename: Satoshi
authors.initials: S
authors.lastname: Kono
authors.forename: Tatsuhiro
authors.initials: T
authors.lastname: Terada
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Miyajima
authors.forename: Masaru
authors.initials: M
authors.lastname: Harada
keywords: aceruloplasminemia; copper; deferasirox; iron