Modern insights into the pathophysiology and treatment of pseudoachalasia.

BACKGROUND: Secondary achalasia or pseudoachalasia is a clinical presentation undistinguishable from achalasia in terms of symptoms, manometric, and radiographic findings, but associated with different and identifiable underlying causes. METHODS: A literature review was conducted on the PubMed database restricting results to the English language. Key terms used were "achalasia-like" with 63 results, "secondary achalasia" with 69 results, and "pseudoachalasia" with 141 results. References of the retrieved papers were also manually reviewed. RESULTS: Etiology, diagnosis, and treatment were reviewed. CONCLUSIONS: Pseudoachalasia is a rare disease. Most available evidence regarding this condition is based on case reports or small retrospective series. There are different causes but all culminating in outflow obstruction. Clinical presentation and image and functional tests overlap with primary achalasia or are inaccurate, thus the identification of secondary achalasia can be delayed. Inadequate diagnosis leads to futile therapies and could worsen prognosis, especially in neoplastic disease. Routine screening is not justifiable; good clinical judgment still remains the best tool. Therapy should be aimed at etiology. Even though Heller's myotomy brings the best results in non-malignant cases, good clinical judgment still remains the best tool as well.

Pseudoachalasia: a diagnostic challenge. When to consider and how to manage?

Pseudoachalasia accounts for up to 4% of patients who present with achalasia-like picture and most often relates to occult malignancy at the cardia or gastroesophageal junction. Thus, any delay in diagnosis might lead to more advanced disease and less chance for curative therapy, not to mention the risk of serious complications resulting from the treatment of supposed achalasia instead of the true underlying cause. The entity should be suspected in patients with advanced age of onset, a shorter duration of symptoms, profound weight loss and difficulty in passing the gastroesophageal junction on endoscopy. The diagnosis of pseudoachalasia can be challenging as upper endoscopy with biopsy might be false negative in 25% of cases and lesions cannot always be detected on computerized tomography scan. Endoscopic ultrasound and guided biopsy play an increasingly important role in the workup of this condition. Treatment of pseudoachalasia depends on the underlying cause. The aim of this review is to highlight the clinicopathological features that distinguish pseudoachalasia from achalasia and the most appropriate diagnostic workup as well as the subsequent management for this condition.

Case report: an aortic aneurysm as cause of pseudoachalasia.

BACKGROUND: Pseudoachalasia is a rare disorder which has clinical, radiographic, and manometric findings that are often indistinguishable from primary achalasia. It is usually associated with malignancy. Few reports describe vascular compression as a cause of pseudoachalasia. CASE PRESENTATION: Here we present a case of a 84-year-old woman with anorexia, dysphagia and unintentional weight loss initially diagnosed as achalasia. Upon further investigation a rare cause of pseudoachalasia due to vascular compression of the esophagus was found. It could have been overlooked due to the fact that the initial work-out with a barium swallow, manometry and endoscopy was suggestive for primary achalasia. CONCLUSION: Particularly in older patients with a manometric diagnosis of achalasia, additional investigation to rule out pseudoachalasia is warranted. Although malignant involvement of the esophagus is the most common cause of pseudoachalasia, benign origins have also been described.

Pseudoachalasia: a systematic review of the literature.

Pseudoachalasia, also known as secondary achalasia, is a clinical condition mimicking idiopathic achalasia but most commonly caused by malignant tumors of gastroesophageal junction (GEJ). Our aim was to systematically review and present all available data on demographics, clinical features, and diagnostic modalities involved in patients with pseudoachalasia. A systematic search of literature published during the period 1978-2019 was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines (end-of-search date: June 25th, 2019). Two independent reviewers extracted data with regards of study design, interventions, participants, and outcomes. Thirty-five studies met our inclusion criteria and were selected in the present review. Overall, 140 patients with pseudoachalasia were identified, of whom 83 were males. Mean patient age was 60.13 years and the mean weight loss was 13.91 kg. A total of 33 (23.6%) patients were wrongly 'treated' at first for achalasia. The most common presenting symptoms were dysphagia, food regurgitation, and weight loss. The median time from symptoms' onset to hospital admission was 5 months. Most common etiology was gastric cancer (19%). Diagnostic modalities included manometry, barium esophagram, endoscopy, and computed tomography (CT). Pseudoachalasia is a serious medical condition that is difficult to be distinguished from primary achalasia. Clinical feature assessment along with the correct interpretation of diagnostic tests is nowadays essential steps to differentiate pseudoachalasia from idiopathic achalasia.

Pseudoachalasia as First Manifestation of a Malignancy.

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.

Gastrointestinal Motility Issues in Cancer Patients.

PURPOSE OF REVIEW: This paper seeks to highlight GI motility disorders that are frequently present in patients with a malignancy. GI dysmotility can occur due to the cancer itself or as a consequence of medical and surgical treatments. Often, symptoms are nonspecific and the diagnosis requires a high index of suspicion. The goal of the paper is to review the common motility problems seen in patients with cancer, their clinical manifestations, and options for management. RECENT FINDINGS: Studies show that newer endoscopy techniques such as endoscopic mucosal dissection can cause esophageal dysmotility. Opioid-induced constipation is frequently encountered in patients with cancer. Motility disorders in cancer patient can lead to clinical morbidity, poor quality of life, and malnutrition. Newer diagnostic tests and medical and surgical treatments may be helpful in improving the diagnosis and management of these disorders.

Abnormal performance of peroral endoscopic myotomy (POEM): a case misdiagnosed as achalasia of cardia.

BACKGROUND: Pseudoachalasia is a rare disease that behaves similarly to achalasia (AC), making it sometimes difficult to differentiate. CASE PRESENTATION: We report a case of 49-year-old male with adenocarcinoma of the gastroesophageal junction misdiagnosed as achalasia. No obvious abnormalities were found in his initial examinations including upper digestive endoscopy, upper gastrointestinal imaging and chest computed tomography (CT). During the subsequent introduced-peroral endoscopic myotomy (POEM), it was found that the mucosal layer and the muscular layer had severe adhesion, which did not receive much attention, delayed the clear diagnosis and effect treatment, and ultimately led to a poor prognosis for the patient. CONCLUSIONS: This case suggests that when patients with AC found mucosal and muscular adhesions during POEM surgery, the possibility should be considered that the lesion may be caused by a malignant lesion.

Delayed Presentation of Malignancy-Associated Pseudoachalasia of the Gastric Cardia.

Pseudoachalasia is a condition in which symptoms, manometry, and imaging findings highly resemble primary achalasia but has a secondary etiology. The majority of patients with pseudoachalasia have the condition as the result of a malignancy, most often at the gastroesophageal junction. There may be issues with timely identification of this malignancy as symptoms are often obscure with diagnostic testing yielding nonspecific results. We describe a case of a 65-year-old diabetic female smoker with a four-month history of intractable vomiting, abdominal pain, and weight loss who was belatedly found to have an adenocarcinoma at the gastric cardia necessitating a total gastrectomy and chemotherapy administration. The case educates clinicians on the clinical alarm symptoms related to malignant pseudoachalasia and stresses the paramount importance of performing a timely esophagogastroduodenoscopy in all cases of achalasia, even with seemingly normal imaging, to rule out pseudoachalasia related to malignancy.

Gastrointestinal Stromal Tumor Presenting as Food Impaction and Pseudo-Achalasia.

Gastrointestinal stromal tumors (GISTs) are one of the most common mesenchymal tumors of the gastrointestinal tract. Studies report the incidence of GIST to be 14.5 per million, with 18% being diagnosed incidentally. The most common location is the stomach while the esophagus is the rarest, representing only 0.7% of cases. The clinical manifestations of GISTs vary. Most patients present with bleeding and gastric discomfort. Some may present with life-threatening hematemesis or melena. We present a unique case of a GIST presenting as pseudo-achalasia and food impaction.

When a Late Metastasis Is Hard to Swallow.

Pseudoachalasia is an uncommon disorder characterised by aperistalsis in the tubular oesophagus and impaired relaxation of the lower oesophageal sphincter (LES). It presents with symptoms and radiologic, endoscopic and manometric findings that mimic idiopathic achalasia. There is a huge spectrum of underlying causes for pseudoachalasia, although malignancy is the most common aetiology. We report the case of a 70-year-old Portuguese female with a history of breast cancer, submitted to tumourectomy, radiotherapy and hormonotherapy, in complete remission for 16 years, who presented in the emergency department with a two-month history of dysphagia, weight loss, heartburn and nausea. Blood work, body computed tomography (CT) scan, mammography, upper endoscopy, colonoscopy and skeletal scintigraphy did not show any alterations, but barium swallow scan and oesophageal manometry suggested achalasia. She was submitted to oesophageal dilatation with partial symptomatic improvement. Six months later, new onset of dysphonia and worsening of initial symptoms was noticed. A new CT scan revealed unilateral pleural effusion, large mediastinal adenopathy and multiple pulmonary nodules highly suggestive of a metastatic malignancy. Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) from mediastinal adenopathies confirmed the tumoural invasion by a carcinoma, and immunohistochemistry suggested a breast origin. She underwent a nasoendoscopy that revealed bilateral vocal cord paralysis. After chemotherapy was started, symptoms of achalasia completely resolved, and tumour markers, which were increased, have normalised. The presented case highlights a pseudoachalasia as the first manifestation of a late breast metastasis. It is essential to always have in mind patients' past history as a key that can help resolve clinical doubts.

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

BACKGROUND: Pseudoachalasia manifests high-resolution manometry (HRM) findings of achalasia but results from a secondary process. We analyzed clinical and HRM characteristics of pseudoachalasia, including malignant and non-malignant subtypes. METHODS: High-resolution manometry was retrospectively reviewed in patients with confirmed pseudoachalasia, and corroborated with endoscopic and radiographic studies. A control cohort of idiopathic achalasia patients was identified. Clinical characteristics, Eckardt score, and HRM metrics were extracted from institutional records. Grouped data and medians (interquartile range) were compared between pseudoachalasia and idiopathic achalasia, and between malignant and non-malignant pseudoachalasia, using parametric and non-parametric statistical tests. KEY RESULTS: Of 28 pseudoachalasia patients (62.2 ± 2.5 years, 60.7% female), 18 (64.3%) had malignancy, and 10 (35.7%) had non-malignant obstruction. Although Eckardt score did not differentiate pseudoachalasia from 58 achalasia patients (55.9 ± 2.5 years, 53.4% female), weight loss was greater (median 9.1 [5.0-18.5] vs 3.6 [0-9.1] kg, P < .02) with shorter duration of symptoms (median 12.9 [8.0-38.6] vs 36.0 [25.7-45.0] weeks, P < .001] in pseudoachalasia. Esophagogastric junction (EGJ) metrics demonstrated lower mean IRP values and lower EGJ contractile integral in pseudoachalasia (P < .04 for each comparison with idiopathic achalasia). Type 1 pattern was more frequent in pseudoachalasia (39.3% vs 13.8%, P < .008). Pseudoachalasia demonstrated incomplete HRM patterns, with lower rates of lack of peristalsis (79.6%, vs 93.1% in achalasia, P < .05). Despite higher Eckardt scores in malignant vs non-malignant pseudoachalasia (median 8.0 [7.0-9.0] vs 6.0 [3.5-7.8], P < .03], no significant HRM differences were noted. CONCLUSIONS AND INFERENCES: Pseudoachalasia manifests with a shorter history, greater weight loss, and incomplete HRM achalasia patterns compared to achalasia.

Successful management of therapy-refractory pseudoachalasia after Ivor Lewis esophagectomy by bypassing colonic pull-up: A case report.

BACKGROUND: Gastric pull-up after esophagectomy is still a demanding surgical procedure and associated with considerable morbidity such as anastomotic leaks, fistulas or stenoses. These complications are usually managed by endoscopy, but in extreme cases multidisciplinary management including reoperations may be necessary. Here, we report managing therapy-refractory pseudoachalasia after Ivor Lewis esophagectomy by bypassing colonic pull-up. CASE SUMMARY: A 70-year-old male with dysphagia and regurgitation after esophagectomy with gastric pull-up reconstruction was transferred to our tertiary hospital. Since endoscopic approaches including balloon dilatation and stenting failed, retrosternal colonic pull-up with Roux-en-Y reconstruction was performed with no subsequent adverse events. CONCLUSION: Secondary colonic pull-up is a demanding but successful surgical procedure in patients suffering from therapy-refractory complaints after esophagectomy with gastric pull-up reconstruction.

A Bitter Pill to Swallow: Pseudoachalasia Secondary to Oesophageal Deviation Resulting from Mediastinal Shift and Left Atrial Enlargement after Left Lower Lobectomy.

Pseudoachalasia, also known as secondary achalasia, is a rare clinical condition mimicking idiopathic achalasia but unrelated to primary loss of nitrergic innervation. It has mostly been attributed to malignancy infiltrating the oesophageal wall, but several other benign underlying pathologies have been reported. Because of similar manometric appearance, high-resolution manometry (HRM) of the oesophagus alone cannot distinguish between idiopathic achalasia and pseudoachalasia. Misdiagnosis can result in ineffective treatment by dilatation or even more invasive therapy. This is the first case-report of pseudoachalasia secondary to oesophageal deviation resulting from mediastinal shift and left atrial enlargement following prior left lower lobectomy. HRM, the gold standard for the diagnosis of achalasia, confirmed the incomplete relaxation of the lower oesophageal sphincter (LES) in absence of normal oesophageal peristalsis. However, additional workup with CAT scan and cardiac ultrasound identified an anatomical shift by the extrinsic mass effect resulting from the atrial enlargement, but without contrast retention at the LES.

Development of pseudoachalasia following magnetic sphincter augmentation (MSA) with restoration of peristalsis after endoscopic dilation.

Pseudoachalasia is mimicking clinical and physiologic manifestations of idiopathic achalasia but results from alternative etiologies that infiltrate or obstruct the esophagogastric junction (EGJ). Anti-reflux surgery is one of the potential etiologies of pseudoachalasia. The majority of cases with persistent dysphagia after a tightly constructed Nissen fundoplication results from EGJ outlet obstruction (EGJOO) and in rare cases progresses to pseudoachalasia. In these extreme cases, endoscopic dilation is not a sufficient treatment and take down of fundoplication would be necessary. In this case report, we present a patient with long-standing GERD symptoms that underwent magnetic sphincter augmentation (MSA) with complete resolution of his reflux symptoms. He did not have dysphagia prior to surgery and his preoperative manometry showed normal peristaltic progression of esophageal contractions. He developed pseudoachalasia 14 months after surgery. Repeated endoscopic dilation in this case resulted in resolution of dysphagia and complete restoration of peristaltic contractions.

Pseudoachalasia secondary to metastatic bladder cancer.

Pseudoachalasia, or secondary achalasia, is a clinical condition that must be distinguished from primary achalasia. Both diagnoses may present similarly, but the aetiology and management for each are drastically different. Most significantly, pseudoachalasia carries a high association with malignancy, most often with primary adenocarcinoma of the oesophagus or cardia. Our case involves a patient with signs and symptoms consistent with pseudoachalasia due to metastatic bladder cancer.

Secondary Gastrointestinal Melanoma of Unknown Origin: A Case Report of a Rare Entity.

Metastatic oculocutaneous melanoma is a malignant process most commonly identified in the lungs, bone, gastrointestinal tract (most frequently the liver), and brain. In most cases, the primary oculocutaneous lesion responsible for the metastases is identified. However, in very rare cases, patients present with metastatic lesions with an occult primary site, termed melanoma of unknown primary (MUP), secondary to the partial or complete regression of the primary lesion. We describe the case of an 89-year-old male whose initial diagnosis of achalasia was later identified to be MUP in the cardia of the stomach with protrusion into the esophagus.

Budd-Chiari Syndrome and Esophageal Achalasia: Unrecognized Intrahepatic Cholangiocarcinoma Invading Multiple Organs.

Intrahepatic cholangiocarcinoma (ICC) is the second-most common primary liver cancer, although its occurrence is relatively rare. Budd-Chiari syndrome (BCS) is characterized by outflow obstruction from the liver, with hepatocellular carcinoma being the most common cause of malignant BCS. In this case report, we describe the occurrence of an unrecognized ICC that induced BCS and esophageal achalasia.

Pseudoachalasia presenting 20 years after Nissen fundoplication: a case report.

BACKGROUND: Pseudoachalasia is a rare diagnosis manifested by clinical and physiologic symptoms of achalasia, with alternative etiology for outflow obstruction. While malignancy is a frequent cause of pseudoachalasia, prior surgical intervention especially surgery involving the esophagogastric junction, may result in a misdiagnosis of achalasia. CASE PRESENTATION: We present a case of a 70 year-old male with dysphagia and weight loss after undergoing a Billroth I and Nissen fundoplication several decades ago. His preoperative studies suggested achalasia and he was therefore referred for an endoscopic myotomy. However, careful interpretation of all the data and intra-operative findings revealed a classic mechanical and functional obstruction requiring takedown of his prior wrap. CONCLUSIONS: Individualized interpretation of preoperative studies in the setting of prior foregut surgery is critical to appropriate diagnosis and intervention. This case highlights the significance of endoscopic findings and features of high-resolution manometry specific to pseudoachalasia, which contrasts with classical features of achalasia.