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Triple A syndrome: a case report.

Piyush Manoria1

  • 1Assistant Professor, Department of Gastroenterology, Bhopal Memorial Hospital and Research Centre, Bhopal, India.

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PubMed
Summary
This summary is machine-generated.

Triple A syndrome, a rare disorder causing alacrimia, achalasia, and adrenal failure, was diagnosed in a 24-year-old woman. Early detection of this condition is crucial for reducing patient morbidity and mortality.

Keywords:
Alacrimiaachalasiaadrenal insufficiency

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Area of Science:

  • Endocrinology
  • Genetics
  • Gastroenterology

Background:

  • Triple A syndrome, also known as Allgrove syndrome, is a rare autosomal recessive disorder.
  • It is characterized by the triad of alacrimia (dry eyes), achalasia (esophageal motility disorder), and adrenal insufficiency.
  • First described in 1978, approximately 100 cases have been documented globally.

Observation:

  • This case report details a 24-year-old female patient presenting with dysphagia (difficulty swallowing).
  • The patient's symptoms prompted a comprehensive evaluation for potential underlying conditions.
  • Diagnostic investigations ultimately led to the identification of Triple A syndrome.

Findings:

  • The patient was diagnosed with Triple A syndrome, confirming the presence of alacrimia, achalasia, and adrenal failure.
  • This diagnosis highlights the importance of considering rare genetic disorders in patients with complex symptoms.
  • The case underscores the challenges in diagnosing Triple A syndrome due to its varied presentation.

Implications:

  • A high index of suspicion is essential for diagnosing Triple A syndrome.
  • Early and accurate diagnosis can significantly improve patient outcomes by enabling timely management.
  • Prompt treatment can mitigate the long-term morbidity and mortality associated with untreated adrenal insufficiency and achalasia.