Mechanism of Constipation in Familial Amyloid Polyneuropathy: a Case Report

Takashi Ito; Ryuji Sakakibara; Shoichi Ito; Tomoyuki Uchiyama; Zhi Liu; Tatsuya Yamamoto; Taketo Yamaguchi; Takeo Odaka; Morihiro Higashi; Takamichi Hattori

doi:10.2169/internalmedicine.45.1570

CASE REPORTS

Mechanism of Constipation in Familial Amyloid Polyneuropathy: a Case Report

Takashi Ito, Ryuji Sakakibara, Shoichi Ito, Tomoyuki Uchiyama, Zhi Liu, Tatsuya Yamamoto, Taketo Yamaguchi, Takeo Odaka, Morihiro Higashi, Takamichi Hattori

Author information

Takashi Ito
Department of Neurology, Chiba University
Ryuji Sakakibara
Department of Neurology, Chiba University
Shoichi Ito
Department of Neurology, Chiba University
Tomoyuki Uchiyama
Department of Neurology, Chiba University
Zhi Liu
Department of Neurology, Chiba University
Tatsuya Yamamoto
Department of Neurology, Chiba University
Taketo Yamaguchi
Department of Gastroenterology, Chiba University
Takeo Odaka
Department of Gastroenterology, Chiba University
Morihiro Higashi
Department of Molecular and Tumor Pathology, Chiba University
Takamichi Hattori
Department of Neurology, Chiba University

Keywords: familial amyloid polyneuropathy, transthyretin, functional gut dysfunction, enteric neuropathy, autonomic dysfunction

JOURNAL OPEN ACCESS

2006 Volume 45 Issue 20 Pages 1173-1175

DOI https://doi.org/10.2169/internalmedicine.45.1570

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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.

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