title: Endoscopic Findings of Small-Bowel Lesions in Familial Amyloid Polyneuropathy: A Case Report.
abstract: Familial amyloid polyneuropathy (FAP) is an autosomal dominant disease associated with the mutations in the transthyretin gene. To date, the endoscopic findings of the small-bowel lesions of FAP have never been described. We report a rare case of FAP with gastrointestinal involvement. A 71-year-old woman complaining of refractory diarrhea for 1 year was referred to our institution. She had sensory disturbance, movement disorder due to muscle weakness, and autonomic nervous system disorders including orthostatic hypotension and dysuria. Her eldest sister had cardiac amyloidosis. Small-bowel radiography and retrograde double-balloon endoscopy (DBE) revealed that fine granular protrusions were diffusely observed both in the jejunum and ileum. Histologic examination of the biopsy specimens obtained from the small bowel revealed perivascular amyloid deposits mainly in the muscularis mucosae and submucosa, which were immunoreactive with transthyretin antibodies. Analysis of the genomic DNA showed a heterozygous Gly47Val mutation in the transthyretin gene. Thus a diagnosis of FAP was established. Diffuse fine granular protrusions in the jejunum and the ileum visualized by small-bowel radiography and DBE may be characteristic of FAP. Multiple biopsies from the gastrointestinal mucosa are recommended for the definitive histologic diagnosis of FAP.
authors.affiliation: From the Division of Gastroenterology, Department of Internal Medicine (KA, SY, SN, KK, TM); the Division of Molecular Diagnostic Pathology, Department of Pathology; School of Medicine, Iwate Medical University, Morioka (ME, KI, TS); and Department of Neurology, Graduate School of Medical Sciences, Kumamoto University (MU, TY, YA), Honjo, Kumamoto, Japan.
authors.forename: Kensuke
authors.initials: K
authors.lastname: Asakura
authors.forename: Shunichi
authors.initials: S
authors.lastname: Yanai
authors.forename: Shotaro
authors.initials: S
authors.lastname: Nakamura
authors.forename: Keisuke
authors.initials: K
authors.lastname: Kawaski
authors.forename: Makoto
authors.initials: M
authors.lastname: Eizuka
authors.forename: Kazuyuki
authors.initials: K
authors.lastname: Ishida
authors.forename: Tamotsu
authors.initials: T
authors.lastname: Sugai
authors.forename: Mitsuharu
authors.initials: M
authors.lastname: Ueda
authors.forename: Taro
authors.initials: T
authors.lastname: Yamashita
authors.forename: Yukio
authors.initials: Y
authors.lastname: Ando
authors.forename: Takayuki
authors.initials: T
authors.lastname: Matsumoto
mesh_terms: D000368:Aged; D000682:Amyloid / Q000032:analysis; D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D001706:Biopsy / Q000379:methods; D003937:Diagnosis, Differential; D003967:Diarrhea / Q000473:pathology / Q000503:physiopathology; D016099:Endoscopy, Gastrointestinal / Q000379:methods; D005260:Female; D006801:Humans; D007082:Ileum / Q000000981:diagnostic imaging / Q000473:pathology*; D007583:Jejunum / Q000000981:diagnostic imaging / Q000473:pathology*; D009154:Mutation; D011228:Prealbumin / Q000235:genetics; D011859:Radiography
chemical_list: D000682:Amyloid; D011228:Prealbumin