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