A patient with esophageal achalasia and common variable immunodeficiency: A Case report and review of the literature

  • David Avelar Rodríguez Instituto Nacional de Pediatría
  • Erick Manuel Toro Monjaraz Instituto Nacional de Pediatría
  • Rubén Peña Vélez Instituto Nacional de Pediatría
  • Marco Antonio Yamazaki Nakashimada Instituto Nacional de Pediatría
  • Jaime Alfonso Ramírez Mayans Instituto Nacional de Pediatría

Resumen

BACKGROUND: Esophageal achalasia is characterized by defective esophageal peristalsis and insufficient relaxation of the lower esophageal sphincter secondary to degeneration of the myenteric plexus. The exact pathophysiological mechanism through which the myenteric plexus is damaged is not fully understood, but increasing evidence suggests that autoimmunity may play a role. Patients with primary immunodeficiencies often develop autoimmunity, and recent studies have shown an increased prevalence of autoimmune diseases in patients with esophageal achalasia.

CLINICAL CASE: We present the case of an 18-year-old female with a history of common variable immunodeficiency and a high degree of autoimmunity (alopecia, vitiligo and autoimmune thyroiditis), who presented with rapidly progressive dysphagia, chest pain, and food regurgitation. A barium swallow and a high-resolution esophageal manometry were performed, and she was diagnosed with type III esophageal achalasia, the least common subtype (10%).


CONCLUSION: Patients with primary immunodeficiencies often develop autoimmunity and may be at increased risk of developing esophageal achalasia. Further research is warranted in order to elucidate the role of autoimmunity in esophageal achalasia.

 

Publicado
2019-05-08
Cómo citar
Avelar Rodríguez, D., Toro Monjaraz, E., Peña Vélez, R., Yamazaki Nakashimada, M., & Ramírez Mayans, J. (2019). A patient with esophageal achalasia and common variable immunodeficiency: A Case report and review of the literature. Acta Pediátrica De México, 40(3), 143-147. https://doi.org/10.18233/APM40No3pp143-1471810
Sección
Caso clínico de interés especial