Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014848 (achalasia)
 2,804 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Amyloidosis is usually considered as a cause of motor disorders of the esophagus, including achalasia. However, most patients with amyloid in the esophagus are AL-type amyloid. We report what we believe is the fourth case of secondary amyloidosis (AA-type) resulting from rheumatoid arthritis. Clinically and radiologically the picture was that of achalasia.
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PMID:Esophageal involvement in secondary amyloidosis mimicking achalasia. 239 52

Esophageal involvement in systemic amyloidosis is common. Manometric studies have been few in number and have revealed a variety of findings compatible with deposition of amyloid in myopathic as well as neuropathic patterns. This report describes a patient with primary amyloid whose esophageal dysfunction was limited to the lower esophageal sphincter, with both a hypertensive sphincter and impaired relaxation after swallows. Pharmacologic testing confirmed a mild abnormality of the inhibitory pathway to the LES with an intact excitatory pathway and sphincter muscle. This case suggests that amyloidosis, like idiopathic achalasia and carcinoma of the lower esophagus, can produce dysphagia by selective impairment of the inhibitory neural pathway to the lower esophageal sphincter.
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PMID:Amyloidosis mimics achalasia's effect on lower esophageal sphincter. 270 92

The gastric emptying study using Tc-99m triethylene tetramine polystyrene resin with or without metoclopramide hydrochloride was used in six patients with different disease entities: achalasia, gastric lymphoma, primary amyloidosis, Zollinger-Ellison syndrome, duodenal diverticulum, and short bowel syndrome. All patients had abnormally prolonged gastric emptying times. The patient with gastric lymphoma and the patient with Zollinger-Ellison syndrome had virtually no effect from metoclopramide. The patient with a duodenal diverticulum and the patient with short bowel syndrome had partial and good response to metoclopramide, respectively. Endoscopic and/or autopsy examinations in patients with achalasia, Zollinger-Ellison syndrome, primary amyloidosis, and duodenal diverticulum proved the patency of the pyloric canal. The patient with gastric lymphoma had a mass associated with marked pyloric narrowing and lymphoma cell infiltration of the gastric wall, to explain the abnormal gastric emptying. The gastric emptying study with or without metoclopramide may be used noninvasively to measure gastric function, to determine the nature of gastric outlet obstruction, and to evaluate therapy with metoclopramide.
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PMID:Technetium-99m triethylene tetramine polystyrene resin gastric emptying studies in patients with various upper gastrointestinal diseases. 392 23

A 78-year-old man with amyloidosis involving the esophagus is described. The clinical and radiographic features resembled classic achalasia, while esophageal manometrics demonstrated aperistalsis, incomplete LES relaxation, but a normal LES resting pressure. A review of the literature suggests that esophageal amyloid may have variable presentations. This patient was successfully managed with forceful pneumatic bag dilatation.
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PMID:Achalasia-like esophagus from amyloidosis. Successful treatment with pneumatic bag dilatation. 687 9

Autonomic dysfunction leads to a variety of clinical disorders involving all parts of the gut. These neural disorders are distinct from the four other recognised categories of disorders involving myogenic function, myoelectric activity, hormonal regulation and abnormal humoral factors. Criteria for establishing that a disorder has a neurogenic aetiology vary in different diseases. Absence of a neural mediated response with intact muscle function has been the major criterion used in most studies. Neural mediated responses of peristalsis, sphincteric relaxation and intestinal contraction following distension or feeding are the major parameters of assessment. Abnormalities in neural function have been demonstrated in achalasia, symptomatic diffuse oesophageal spasm, diabetes mellitus, amyloidosis, scleroderma and chronic idiopathic intestinal pseudoobstruction. The anatomical site and type of gut neurological disorder varies in each condition. Morphological studies have been helpful in demonstrating specific intranuclear inclusion bodies in some pseudoobstruction patients, and vagal and ganglionic lesions in achalasia. Intact muscle ad myoelectric function as well as normal responsiveness to drugs acting directly upon muscle may be established by morphological study. Advancement in basic technology should provide a rewarding area for future study of the pathogenesis and treatment of the gut neurological disorders.
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PMID:Clinical aspects of autonomic nerve dysfunction of the gut. 695 Dec 65

The involvement of the esophagus in amyloidosis secondary to rheumatoid arthritis is rare. The case of a female patient with rheumatoid arthritis and secondary esophageal amyloidosis (type AA) with a radiologic and endoscopic clinical picture compatible with achalasia is presented. In the manometry carried out after two cardiomyotomies, abundant non propulsant tertiary waves were seen, as were two primary waves, intraesophageal pressure higher than that of the gastric fundus and lower hypertensive esophageal sphincter which was completely relaxed on one occasion, resulting in a manometric pattern which was different to that of the other two cases published with the same disease. Endoscopic cardiomyotomies and dilatations were performed. The patient died after 2 years due to post dilatation esophageal perforation. The manometric findings are compared with those of the two previous similar cases with emphasis being made in that the anarchic arrangement of the amyloid in the esophagus produces different unforeseen and uncharacteristic motility patterns. The authors only found in the literature two cases of esophageal amyloidosis secondary to rheumatoid arthritis simulating achalasia.
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PMID:[Esophageal amyloidosis secondary to rheumatoid arthritis simulating achalasia]. 806 6

Oesophageal motility disorders comprise various abnormal manometric patterns which usually present with dysphagia or chest pain. Some, such as achalasia, are diseases with a well defined pathology, characteristic manometric features, and good response to treatments directed at the pathophysiological abnormalities. Other disorders, such as diffuse oesophageal spasm and hypercontracting oesophagus, have no well defined pathology and could represent a range of motility changes associated with subtle neuropathic changes, gastro-oesophageal reflux, and anxiety states. Although manometric patterns have been defined for these disorders, the relation with symptoms is poorly defined and the response to medical or surgical therapy unpredictable. Hypocontracting oesophagus is generally caused by weak musculature commonly associated with gastro-oesophageal reflux disease. Secondary oesophageal motility disorders can be caused by collagen vascular diseases, diabetes, Chagas' disease, amyloidosis, alcoholism, myxo-oedema, multiple sclerosis, idiopathic pseudo-obstruction, or the ageing process.
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PMID:Oesophageal motility disorders. 1180 95

Rheumatic diseases cover a wide spectrum of clinical syndromes and frequently present with gastrointestinal alterations. Systemic amyloidosis is associated with infectious diseases or chronic inflammatory processes such as rheumatoid arthritis and it can also affect the gastrointestinal tract. Although esophageal involvement is difficult to quantify because its course is frequently asymptomatic, systemic amyloidosis is recognized as a cause of motor disorders of the esophagus. Typical manometric patterns, including achalasia, are usually absent. Esophageal involvement due to amyloid deposits usually corresponds to primary amyloidosis as only a few cases of secondary esophageal deposits (type AA) have been described. We describe a new case of this exceptional association that first presented as dysphagia in a patient with rheumatoid arthritis. The initial suspicion of pseudoachalasia led to the definitive diagnosis of secondary amyloidosis.
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PMID:[Pseudoachalasia and secondary amyloidosis in a patient with rheumatoid arthritis]. 1206 3

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.
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PMID:A rare case of multiple myeloma initially presenting with pseudoachalasia. 1920 46

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.
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PMID:Pseudoachalasia as First Manifestation of a Malignancy. 3060 60


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