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Achalasia in siblings

C J Stoddard, A G Johnson

The British Journal of Surgery

|February 1, 1982

Summary

This summary is machine-generated.

Familial achalasia, a rare esophageal motility disorder, occurred in two brothers treated with esophagomyotomy. Genetic factors may play a role in achalasia etiology, as unaffected siblings and parents were studied.

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Area of Science:

Gastroenterology
Clinical Genetics
Esophageal Disorders

Background:

Achalasia is a rare esophageal motility disorder characterized by impaired relaxation of the lower esophageal sphincter and absent peristalsis.
The etiology of achalasia is largely unknown, with most cases considered idiopathic.

Observation:

This report details the occurrence of achalasia in two brothers.
Both affected brothers underwent successful esophagomyotomy for their condition.
Genetic analysis was performed on the affected siblings and their parents and two unaffected siblings.

Findings:

No evidence of esophageal motor dysfunction was found in the parents or unaffected siblings.
The familial occurrence suggests a potential genetic predisposition in achalasia.

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Implications:

The findings suggest that genetic factors may be important in the etiology of achalasia.
Further research into the genetic basis of achalasia is warranted.
This case highlights the importance of considering familial aggregation in rare diseases.