title: A case of adult type 1 Gaucher disease complicated by temporal intestinal hemorrhage.
abstract: A 21-year-old man with a history of sudden rectal hemorrhage was referred to our hospital. Examination disclosed thrombocytopenia and hepatosplenomegaly. A liver biopsy specimen demonstrated Gaucher cells in Glisson's capsule. Additional investigations revealed a low level of leukocyte β-glucosidase activity and common mutations of the glucocerebrosidase gene, L444P/D409H. We diagnosed the patient with Gaucher disease type 1. He underwent enzyme replacement therapy. Thrombocytopenia and hepatosplenomegaly improved at a rate of approximately 50 and 20%, respectively, within 6 months. This case suggests that we must pay attention to adult Gaucher disease as a differential diagnosis for cryptogenic thrombocytopenia.
authors.affiliation: Department of Gastroenterology, Faculty of Medicine, Yamagata University, Yamagata ; Department of Biochemistry and Molecular Biology, Graduate School of Medical Science, Yamagata University, Yamagata.
authors.forename: Junitsu
authors.initials: J
authors.lastname: Ito
authors.forename: Takafumi
authors.initials: T
authors.lastname: Saito
authors.forename: Chikahiko
authors.initials: C
authors.lastname: Numakura
authors.forename: Akiko
authors.initials: A
authors.lastname: Iwaba
authors.forename: Shinpei
authors.initials: S
authors.lastname: Sugahara
authors.forename: Rika
authors.initials: R
authors.lastname: Ishii
authors.forename: Chikako
authors.initials: C
authors.lastname: Sato
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Haga
authors.forename: Kazuo
authors.initials: K
authors.lastname: Okumoto
authors.forename: Yuko
authors.initials: Y
authors.lastname: Nishise
authors.forename: Hisayoshi
authors.initials: H
authors.lastname: Watanabe
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Ida
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Hayasaka
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Togashi
authors.forename: Sumio
authors.initials: S
authors.lastname: Kawata
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Ueno
keywords: Gaucher disease type 1; L444P/D409H; Rectal hemorrhage; Thrombocytopenia
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