Sororal occurrence of diffuse esophageal spasm

Area of Science:

• Gastroenterology
• Esophageal Motility Disorders

Background:

• Diffuse esophageal spasm (DES) is a primary esophageal motility disorder characterized by abnormal, uncoordinated esophageal contractions.
• While the etiology of DES remains largely unknown, genetic factors are increasingly suspected in its pathogenesis.

Observation:

• This case report describes two sisters exhibiting classical clinical symptoms, characteristic radiological findings, and definitive manometric evidence of diffuse esophageal spasm.
• The patients presented with dysphagia and chest pain, common symptoms associated with esophageal motility dysfunction.

Findings:

• The diagnosis of diffuse esophageal spasm was confirmed in both sisters through high-resolution esophageal manometry, revealing simultaneous and repetitive esophageal contractions.
• Radiological imaging further supported the diagnosis by showing characteristic esophageal morphologies.

Implications:

• This is the first documented instance of familial occurrence of diffuse esophageal spasm.
• The findings suggest a potential genetic predisposition or hereditary component in the development of diffuse esophageal spasm, warranting further investigation into genetic factors.