Pseudoachalasia as First Manifestation of a Malignancy

Abstract

Pseudoachalasia is a condition in which symptoms, radiologic, endoscopic, and manometric findings mimick idiopathic achalasia. About 4% of patients with a typical constellation for idiopathic achalasia will turn out to have pseudoachalasia, posing a major diagnostic challenge. A large spectrum of underlying causes of pseudoachalasia has been described. However, in about 70% of affected patients, this condition is caused by a malignancy (mostly adenocarcinoma of the esophagogastric junction or cardia). We describe a 16-year-old high school student referred for management of achalasia who turned out to have pseudoachalasia due to adenocarcinoma of the cardia. He was cured with preoperative chemotherapy followed by radical surgery. Therapy of pseudoachalasia secondary to neoplasia is directed against the tumor or may be palliative to keep the lumen open. Other causes of pseudoachalasia include esophageal motility disturbances as a paraneoplastic phenomenon (e.g., with small cell lung cancer), post fundoplication or post bariatric surgery, in association with a thoracic aortic aneurysm, or with sarcoidosis or amyloidosis. Therapy is directed accordingly to eliminate or correct the underlying cause.

Clinical-Pathological Conference Series from the Medical University of Graz

“…In view of all of the above, I do not think that this patient's presentation speaks for the diagnosis of achalasia. In rare cases, achalasia may be mimicked by cancer (pseudoachalasia), which we have recently described in a very young patient [44]. However, the long history of dysphagia without symptom progression speaks against this diagnosis.…”

The Mechanisms for the Association of Cancer and Esophageal Dysmotility Disorders

“…This is the main mechanism by which adenocarcinoma of the gastroesophageal junction leads to pseudoachalasia. Fabian et al [82] reported pseudoachalasia as the first manifestation of a cardia adenocarcinoma in a patient that presented typical signs of achalasia at endoscopy, manometry, and the barium swallow test.…”

“…Most of the patients with neuronal paraneoplastic pseudoachalasia express serum autoantibodies, and the most common is the antineuronal nuclear antibody type-1 (ANNA-1; or Anti-Hu) [85]. Anti-acetylcholine and anti-neural calcium channel antibodies may be present in some patients as well [82,86]. Previous in vitro studies showed that these antibodies bind to neuronal antigens.…”

Jackhammer Esophagus

“…Malignancy is rarely associated with esophageal motility disorders, but when it occurs, it is more commonly linked to achalasia and associated primarily with adenocarcinoma of the cardia. 49,50 Cancer has also been occasionally reported in association with distal esophageal spasm (DES). 51 Recently, JE was added to the list of motility disorders that are associated with malignancy and systemic diseases.…”