Esophageal manometry in familial amyloid polyneuropathy.

The motility of the esophagus was studied by esophageal manometry in eight patients with familial amyloid polyneuropathy. All eight patients had an abnormality of the lower esophageal sphincter. Seven of eight had a borderline or decreased lower esophageal sphincter pressure and the other patient had a non-relaxing lower esophageal sphincter pressure. Six of eight patients had abnormalities of the body of the esophagus consisting of either simultaneous or decreased amplitude of contractions involving the smooth or striated muscle or both. In addition, seven of eight patients had diarrhea and six of these seven patients had evidence for steatorrhea. The manometric abnormalities observed were consistent with deposition of amyloid in smooth and striated muscle as well as in the enteric nervous system. Esophageal manometry appears to be a sensitive technique to determine if the gastrointestinal tract is involved in familial amyloid polyneuropathy.