University of Virginia Health System Charlottesville, Virginia
Nisa Desai, MD1, Andrew Copland, MD2, Jeanetta Frye, MD3, Dennis Kumral, MD4; 1University of Virginia Health System, Charlottesville, VA; 2University of Virginia Digestive Health Center, Charlottesville, VA; 3University of Virginia Digestive Health Center, Crozet, VA; 4University of Virginia, Charlottesville, VA
Introduction: Achalasia is a primary motility disorder caused by loss of inhibitory esophageal neurons leading to impaired relaxation of the lower esophageal sphincter (LES). Pseudoachalasia often mimics achalasia with its clinical, radiographic, and manometric findings, but does not involve primary denervation. It may be associated with neoplastic infiltration of esophageal myenteric plexus or, in rare cases, a paraneoplastic syndrome. Type 1 antineuronal nuclear antibody (ANNA-1), associated with small cell lung cancer (SCLC), has been implicated in paraneoplastic pseudoachalasia.
Methods: 75 yo F with SCLC complicated by anti-ANNA-1 paraneoplastic syndrome presented with 2 years of progressive solid and liquid dysphagia. SCLC was diagnosed 7 years prior, with peripheral neuropathy, positive ANNA-1 antibody, and a lung mass and achieved remission with chemotherapy and radiation 6 years prior. EGD was unrevealing, barium swallow showed extensive esophageal dysmotility, and esophageal high-resolution manometry (HRM) demonstrated panesophageal pressurization (PEP) consistent with type 2 achalasia. Lost to follow up, her dysphagia worsened. Repeat EGD had retained food debris in esophagus and esophageal HRM again demonstrated PEP (Figure 1). Anti-ANNA-1 titer was markedly positive at 1:3840. PET scans did not show cancer recurrence. EGD with LES botox injection (100units divided into 4 quadrants) improved dysphagia within 2 months with Eckardt Score down from 6 to 2. She will begin therapy with cyclophosphamide. Discussion: Pseudoachalasia is difficult to diagnose from primary achalasia. Both conditions show incomplete relaxation of LES on esophageal HRM. Neoplastic infiltration is the most common cause of pseudoachalasia. ANNA-1 antibodies are also implicated in paraneoplastic pseudoachalasia. Treating the underlying cause of pseudoachalasia may yield limited success. Despite remission from malignancy, patients can have ongoing paraneoplastic gastrointestinal dysmotility due to immune-mediated destruction of myenteric neuronal elements. Acetylcholine receptor antagonists or immune-mediated therapy are thought to be beneficial. This case highlights that EGD with LES-botox therapy may improve LES relaxation in pseudoachalasia prior to initiation of immune-mediated treatments.
Manometry with pan-esophageal pressurization
Disclosures: Nisa Desai indicated no relevant financial relationships. Andrew Copland indicated no relevant financial relationships. Jeanetta Frye indicated no relevant financial relationships. Dennis Kumral indicated no relevant financial relationships.