Mechanism of constipation in familial amyloid polyneuropathy: a case report

Intern Med. 2006;45(20):1173-5. doi: 10.2169/internalmedicine.45.1570. Epub 2006 Nov 15.

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.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Amyloid / genetics
  • Amyloid Neuropathies, Familial / complications*
  • Amyloid Neuropathies, Familial / physiopathology
  • Autonomic Nervous System / physiopathology*
  • Constipation / etiology*
  • Constipation / physiopathology
  • Defecation
  • Enteric Nervous System / physiopathology*
  • Fatal Outcome
  • Female
  • Gastrointestinal Transit
  • Heart Failure / etiology
  • Humans
  • Intestines / innervation
  • Intestines / physiopathology
  • Muscle Contraction
  • Muscle, Smooth / physiopathology
  • Prealbumin / genetics
  • Pressure
  • Tilt-Table Test

Substances

  • Amyloid
  • Prealbumin
  • amyloid prealbumin