A rare case of multiple myeloma initially presenting with pseudoachalasia

Abstract

Pseudoachalasia is a rare clinical entity with clinical, radiographic, and manometric features often indistinguishable from achalasia. Primary adenocarcinomas arising at the gastroesophageal junction or a tumor of the distal esophagus are the most frequent causes of pseudoachalasia. Rarely, processes other than esophagogastric cancers including chronic idiopathic intestinal pseudo-obstruction, amyloidosis, sarcoidosis, Chagas' disease, vagotomy, antireflux surgery, pancreatic pseudocysts, von Recklinghausen's neuroinomatosis, gastrointestinal stromal tumor, and other malignancies and rare genetic syndromes, may lead to the development of pseudoachalasia. Secondary achalasia is extremely rare, with less than 100 cases reported in the literature so far. Gastrointestinal manifestations in primary or secondary amyloidosis include abdominal pain, diarrhea, constipation, malabsorption, obstruction, motility disturbance, intestinal infarction, perforation, and hemorrhage; however, gastrointestinal tract involvement is asymptomatic in most instances. We present here a rare case of multiple myeloma initially presenting with dysphagia because of esophageal amyloidosis and manometric findings typical of achalasia.

Pseudoachalasia as First Manifestation of a Malignancy

“…Invasion may have played a role in a case of urothelial carcinoma spreading to the peritoneum and pillars of the diaphragm [52] and expansion to the esophagus has also been reported in a case of cholangiocarcinoma [53]. Besides this association, pseudoachalasia has also been reported as a manifestation of such malignancies as pancreatic cancer [31,51], pleural mesothelioma [54], lung cancer [55], multiple myeloma [35], and metastatic breast and cervical carcinoma [56,57]. Paraneoplastic pseudoachalasia [58] is rare, but recently its incidence has been increasing [51].…”

“…A large spectrum of underlying causes has been reported, including thoracic aortic aneurysm [30], rheumatoid arthritis [31], previous Nissen fundoplication [32], bariatric surgery and adjustable gastric band placement [33,34], amyloidosis [35,36], sarcoidosis [37], systemic mastocytosis [38], intestinal pseudoobstruction [39], and Chagas disease [40]. In Fabry disease, the accumulation of lysosomal Gb₃ (globotriaosylceramide) leads to neuronal and vascular dysfunction that may also cause pseudoachalasia [41].…”

Duration of symptoms and manometric parameters offer clues to diagnosis of pseudoachalasia

“…Primary or secondary cancer accounts for approximately 70% of cases, with esophageal and gastric cancer being the most common. Other neoplastic processes implicated include leiomyomatosis, pancreatic carcinoma, multiple myeloma, small cell lung cancer, mesothelioma, and breast cancer 3‐11 …”

“…2 While primary achalasia is idiopathic in nature, a number of disorders can manifest similar symptoms and manometric findings, termed pseudoachalasia. 3,4 Various pathophysiologic processes including malignant obstruction at the distal esophagus or cardia; obstruction from tight fundoplication, laparoscopically placed gastric bands, paraesophageal hernia, and paraneoplastic effects of distant malignancy [3][4][5][6][7][8][9][10][11] can contribute to pseudoachalasia. Primary or secondary cancer accounts for approximately 70% of cases, with esophageal and gastric cancer being the most common.…”

“…Other neoplastic processes implicated include leiomyomatosis, pancreatic carcinoma, multiple myeloma, small cell lung cancer, mesothelioma, and breast cancer. [3][4][5][6][7][8][9][10][11] High-resolution manometry (HRM) is performed when esophagogastroduodenoscopy (EGD) or/and barium esophagram is unrevealing in a patient with obstructive esophageal symptoms 12 and has emerged as a technique with higher sensitivity for detection of motor abnormalities compared to conventional manometry. 13,14 Esophageal outflow obstruction, the hallmark finding in achalasia spectrum disorders, can be identified when the integrated relaxation pressure (IRP) is above the upper limit of normal on esophageal HRM, as defined by the Chicago Classification version 3.0.…”