title: Mechanism of constipation in familial amyloid polyneuropathy: a case report.
abstract: Previously no functional study has been available for the mechanism of constipation in familial amyloid polyneuropathy (FAP). We performed a gut function test in a 78-year-old woman with transthyretin-type FAP who had severe constipation. The gut function test showed a prolonged colonic transit time, a low anal pressure at rest and upon squeezing, loss of the spontaneous phasic rectal contractions, and weak abdominal strain. All these abnormalities suggested a peripheral autonomic dysfunction, corresponding to the enteric neuropathy that was confirmed upon autopsy.
authors.affiliation: Department of Neurology, Chiba University.
authors.forename: Takashi
authors.initials: T
authors.lastname: Ito
authors.forename: Ryuji
authors.initials: R
authors.lastname: Sakakibara
authors.forename: Shoichi
authors.initials: S
authors.lastname: Ito
authors.forename: Tomoyuki
authors.initials: T
authors.lastname: Uchiyama
authors.forename: Zhi
authors.initials: Z
authors.lastname: Liu
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Yamamoto
authors.forename: Taketo
authors.initials: T
authors.lastname: Yamaguchi
authors.forename: Takeo
authors.initials: T
authors.lastname: Odaka
authors.forename: Morihiro
authors.initials: M
authors.lastname: Higashi
authors.forename: Takamichi
authors.initials: T
authors.lastname: Hattori
mesh_terms: D000368:Aged; D000682:Amyloid / Q000235:genetics; D028227:Amyloid Neuropathies, Familial / Q000150:complications* / Q000503:physiopathology; D001341:Autonomic Nervous System / Q000503:physiopathology*; D003248:Constipation / Q000209:etiology* / Q000503:physiopathology; D003672:Defecation; D017615:Enteric Nervous System / Q000503:physiopathology*; D017809:Fatal Outcome; D005260:Female; D005772:Gastrointestinal Transit; D006333:Heart Failure / Q000209:etiology; D006801:Humans; D007422:Intestines / Q000294:innervation / Q000503:physiopathology; D009119:Muscle Contraction; D009130:Muscle, Smooth / Q000503:physiopathology; D011228:Prealbumin / Q000235:genetics; D011312:Pressure; D018667:Tilt-Table Test
chemical_list: D000682:Amyloid; D011228:Prealbumin; C041120:amyloid prealbumin