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Chronic esophagitis in two sisters.

K Schulze-Delrieu, S Anuras

    Digestive Diseases and Sciences
    |December 1, 1983
    PubMed
    Summary
    This summary is machine-generated.

    Gastroesophageal reflux disease (GERD) and esophagitis can manifest early in families with a shared genetic defect. This suggests a hereditary component influencing esophageal health from adolescence.

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    Area of Science:

    • Gastroenterology
    • Genetics
    • Esophageal Diseases

    Background:

    • Gastroesophageal reflux and gastric stasis can lead to severe esophageal conditions.
    • Familial clustering of hiatal hernias and Barrett's esophagus suggests a genetic predisposition.

    Observation:

    • Two sisters presented with early-onset gastroesophageal reflux, gastric stasis, severe erosive esophagitis, and epithelial hyperplasia before age 35.
    • Both sisters had hiatal hernias and impaired esophageal motor function; one also had a peptic stricture, the other a gastric bezoar.
    • Seven additional family members across three generations reported severe, lifelong reflux symptoms.

    Findings:

    • The familial occurrence of severe, early-onset esophagitis and related complications suggests a shared genetic defect.

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  • Esophageal motor dysfunction and hiatal hernias appear to be inherited traits in this family.
  • The findings indicate a potential genetic link between GERD, hiatal hernias, and esophageal pathology.

    • Implications:

    • This family's condition may represent a novel genetic disorder affecting esophageal function and integrity.
    • Early identification of at-risk family members could allow for timely interventions to prevent severe esophageal damage.
    • Further research into the genetic basis of familial GERD and associated esophageal diseases is warranted.