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Oesophageal dysfunction in familial amyloidosis with polyneuropathy
1Department of Clinical Physiology, University of Umeå, Sweden.
Clinical Physiology (Oxford, England)
|January 1, 1993
Summary
Familial amyloid polyneuropathy (FAP) patients exhibit significant esophageal motility issues due to autonomic denervation, not amyloid stiffness. Drug responses highlight impaired vagal nerve function in these patients.
Area of Science:
- Gastroenterology
- Neurology
- Genetics
Background:
- Familial amyloid polyneuropathy (FAP) is a progressive, often fatal, genetic disorder.
- Esophageal dysmotility is a common but understudied complication of FAP.
- Autonomic dysfunction, particularly vagal denervation, is implicated in FAP pathophysiology.
Purpose of the Study:
- To investigate esophageal motility in patients with FAP.
- To assess the impact of amyloid deposition on esophageal distensibility.
- To evaluate the effects of specific drugs on esophageal function in FAP.
Main Methods:
- Esophageal manometry was performed on 16 FAP patients and 14 healthy controls.
- Oesophageal distensibility was measured using balloon inflation.
- Pharmacological testing with neostigmine and scopolamine-terbutaline was conducted.
Main Results:
- FAP patients showed severe (6/16) or moderate (10/16) esophageal dysmotility.
- Neostigmine response was blunted in FAP patients compared to controls.
- Scopolamine-terbutaline significantly impaired esophageal motility in both groups.
- Esophageal distensibility was similar between FAP patients and controls.
Conclusions:
- Esophageal dysfunction in FAP is likely due to autonomic denervation, not increased stiffness from amyloid deposits.
- The findings suggest a predominantly vagal neuropathy affecting esophageal motility.
- Pharmacological responses provide further evidence of impaired autonomic control in FAP patients.