Mechanism of constipation in familial amyloid polyneuropathy: a case report.
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.
Ito
Takashi
T
Department of Neurology, Chiba University.
Sakakibara
Ryuji
R
Ito
Shoichi
S
Uchiyama
Tomoyuki
T
Liu
Zhi
Z
Yamamoto
Tatsuya
T
Yamaguchi
Taketo
T
Odaka
Takeo
T
Higashi
Morihiro
M
Hattori
Takamichi
T
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
D000682:Amyloid; D011228:Prealbumin; C041120:amyloid prealbumin