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2.1
Idiopathic Achalasia
Achalasia, Familial Esophageal

Presentation

[…] anastomosis and also pulmonary infection, but presenting good results with early and proper treatment; as for the other patients, two of the three submitted to transmediastinal esophagectomy presented pleural complications. [ncbi.nlm.nih.gov]

Clinical presentation Primary achalasia Incidence was equally divided between males and females (males = 15 and females = 15). The mean age at presentation was 39 years (range, 18-74 years). Dysphagia was reported at presentation in all patients. [ijri.org]

Entire Body System

  • Pain

    Chest pain had a poor predictive value (24%) for perforation. CONCLUSIONS: Long-term relapse is common following pneumatic dilatation. [ncbi.nlm.nih.gov]

    In this series we found that chest pain is more frequent in ≤60 year and that men are less affected than women in older that 60 years, a finding which was previously described by d´Alteroche et al. 17 The mechanism of chest pain is unknown, occurs in [revistagastroenterologiamexico.org]

    Previous studies have identified baseline chest pain (as assessed on a scale of 0 to 5, with 0 indicating no pain and 5 indicating daily pain), basal pressure at the lower esophageal sphincter above 30 mm Hg, a sigmoid esophagus, and a long duration of [nejm.org]

    The severity of achalasia symptoms in all participants was documented using the Eckardt score, a clinical symptom score whose components are dysphagia, chest pain, regurgitation and weight loss. [open.uct.ac.za]

  • Weight Loss

    Abstract Pseudoachalasia or secondary achalasia is commonly recognized and sought for in the context of an elderly patient presenting with weight loss and brief duration of symptoms. [ncbi.nlm.nih.gov]

    […] of weight loss, as it would be expected that patients with higher baseline LES pressure report more weight loss. [gastroenterologyandhepatology.net]

    The severity of achalasia symptoms in all participants was documented using the Eckardt score, a clinical symptom score whose components are dysphagia, chest pain, regurgitation and weight loss. [open.uct.ac.za]

    Weight loss (usually between 5 and 10 kg) is present in most, but not all patients. Heartburn occurs in 27%-42% of IA patients. [orpha.net]

    Reynold et al [40 ] recorded weight loss in patients with achalasia at presentation and found mean weight loss to be less than 7 kg. In a separate, study by Tucker et al [10 ] mean weight loss was more than 7 kg in secondary achalasia group. [tropicalgastro.com]

  • Asymptomatic

    We studied the esophageal motility of 45 patients with Chagas' disease (seven with esophageal dilation), 27 patients with idiopathic achalasia (13 with esophageal dilation), and 40 asymptomatic volunteers. [ncbi.nlm.nih.gov]

    Asymptomatic linear tears require no therapy. If there are symptoms, conservative therapy with intravenous antibiotics and nothing by mouth is usually adequate. [clinicaladvisor.com]

    As a result of its wider safety range and fewer complications, local injection of BT into the LES muscle of patients with achalasia lowers LES tone, and the patient becomes asymptomatic. [wjgnet.com]

    There is no evidence of recurrence of the dysphagia and the patient is asymptomatic after the first year follow-up. [ispub.com]

    There are also no data to advocate for further treatment of asymptomatic patients despite the presence of predictors of negative outcome, such as an abnormal 5 min timed barium esophagram or an elevated LES pressure >10 mm Hg. [gi.org]

  • Weakness

    […] complication requiring immediate esophageal decompression with a nasogastric tube Peristalsis in the distal smooth muscle segment of the esophagus may be lost due to an abnormality of the Auerbach plexus (responsible for smooth muscle relaxation), resulting in weak [radiopaedia.org]

    Case Description A 53-year-old man with no significant past medical history presented with progressive symptoms of nausea, loss of appetite, decreased food intake, insomnia, generalized fatigue, muscle weakness, dizziness and joint pain, along with a [karger.com]

    Among the anomalies seen in SCI patients were type II achalasia (12%), type III achalasia (4%), esophagogastric junction outflow obstruction (20%), hypercontractile esophagus (4%), and peristaltic abnormalities (weak peristalsis with small or large defects [reference.medscape.com]

    The strength of a recommendation is graded as strong when the desirable effects of an intervention clearly outweigh the undesirable effects and is graded as weak when uncertainty exists regarding the tradeoffs (Table 1). [gi.org]

  • Trisomy 21

    Achalasia is also more frequent in patients with trisomy 21, or Down syndrome. Approximately 75% of all children with trisomy 21 present gastrointestinal disorders ( 20 ) and around 2% develop achalasia. [aerzteblatt.de]

Gastrointestinal

  • Dysphagia

    A good response was defined as a greater than 50% reduction from baseline in the ASS, height and/or volume of barium in TBE, and absence of severe dysphagia or regurgitation at 1.5 months after the last injection. [ncbi.nlm.nih.gov]

    Clinical description IA is characterized predominantly by dysphagia to solids and liquids, bland regurgitation often unresponsive to an adequate trial of proton pump inhibitor (PPI), and chest pain. [orpha.net]

    Intermittent dysphagia for solids associated with a multiringed esophagus: clinical features and response to dilatation. Dysphagia 2007; 22(1): 55-62. Selected review articles and book chapters Cook IJ. [stgeorgeswallowcenter.org]

    The most frequent symptoms are dysphagia, regurgitation, heartburn, weight loss and non-cardiac chest pain. [misjournal.net]

  • Regurgitation

    Differential diagnosis A majority of patients are misdiagnosed as having reflux disease given regurgitation. [orpha.net]

    Among the main symptoms, active and passive regurgitation showed significant correlation with LES relaxation pressure when compared to other individual symptoms using Pearson's correlation coefficient (p < 0.001 and 0.002, respectively). [ncbi.nlm.nih.gov]

    The severity of achalasia symptoms in all participants was documented using the Eckardt score, a clinical symptom score whose components are dysphagia, chest pain, regurgitation and weight loss. [open.uct.ac.za]

    Most studies quoted 85% or more patients have improvement in dysphagia and regurgitation or resolution after laparoscopic Heller myotomy (John L. Cameron, 2011). [ibimapublishing.com]

  • Progressive Dysphagia

    The annual incidence of achalasia is approximately 1 in 100,000 people worldwide, with an overall prevalence of 9 to 10 in 100,000 people. 1-4 Patients often present with progressive dysphagia to solids and liquids, heartburn, chest pain, regurgitation [gastroenterologyandhepatology.net]

    Preoperative evaluation IEA diagnosis was done through: Clinical evaluation - All patients presented progressive dysphagia for solid and pasty food for three to 11 years, with average of 5,7 years. [ncbi.nlm.nih.gov]

    Patients present with slowly progressive dysphagia, more to liquids than solids. The diagnosis can be made by manometry. [ijri.org]

    Progressive dysphagia, more to liquids than solids, is a frequent presenting symptom. Confirmation of diagnosis is provided by manometric, radiographic and endoscopic evaluation. [tropicalgastro.com]

Cardiovascular

  • Chest Pain

    Chest pain had a poor predictive value (24%) for perforation. CONCLUSIONS: Long-term relapse is common following pneumatic dilatation. [ncbi.nlm.nih.gov]

    In this series we found that chest pain is more frequent in ≤60 year and that men are less affected than women in older that 60 years, a finding which was previously described by d´Alteroche et al. 17 The mechanism of chest pain is unknown, occurs in [revistagastroenterologiamexico.org]

    The severity of achalasia symptoms in all participants was documented using the Eckardt score, a clinical symptom score whose components are dysphagia, chest pain, regurgitation and weight loss. [open.uct.ac.za]

  • Hypotension

    Hypotension, headache, and drug resistance have been described with medium- to long-term and even initial therapy. Nifedipine, a calcium channel blocker, is another agent used for the pharmacologic treatment of achalasia. [clinicaladvisor.com]

    […] varices by endoscopic sclerotherapy, in association with an increased number of endoscopic sessions but not with manometric parameters. [6] Features of esophageal motility after endoscopic sclerotherapy are a defective lower sphincter and defective and hypotensive [reference.medscape.com]

    (10-30 mg; given 30-45 min before meals) decrease LES resting pressure by 13% to 49% and improve symptoms in up to 75% of patients. 5 Effectiveness varies, as absorption is unpredictable and limited by side effects (including headaches, orthostatic hypotension [gastroenterologyandhepatology.net]

    The clinical response with pharmacologic agents is short acting and the side effects, such as headache, hypotension, and pedal edema, are common limiting factors in their use. Furthermore, they do not provide complete relief of symptoms. [gi.org]

  • Retrosternal Chest Pain

    chest pain made worse on eating. [bjmp.org]

Skin

  • Ulcer

    Ominous endoscopic findings are mucosal ulceration or nodularity, reduced compliance of the esophagogastric junction, or an inability to pass the endoscope into the stomach. [scholars.northwestern.edu]

    サルコイドーシス sarcoidosis 残胃胃炎 residual stomach gastritis 残胃癌 residual stomach cancer シェーンライン・ヘノッホ症候群 Schönlein-Henoch syndrome 十二指腸炎 duodenitis 十二指腸潰瘍 duodenal ulcer 球後部潰瘍 postbulbar ulcer 十二指腸癌 cancer of the duodenum 十二指腸憩室 diverticulum of the duodenum 十二指腸穿孔 [jsge.or.jp]

    Although the endoscopy performed in patients in this study has not demonstrated lesions in the esophageal lumen, the performance of this exam is fundamental, because as in the chagasic megaesophagus, can also occur chronic ulcerative esophagitis secondary [ncbi.nlm.nih.gov]

    Ominous findings on endoscopy that suggest a diagnosis of secondary achalasia include mucosal ulceration, nodularity, growth and submucosal or extrinsic bulge [41 ]. Endoscopy can however be misleading in cases where no obvious growth is noted. [tropicalgastro.com]

    However, the esophagus may appear normal or with sequelae of stasis, including superficial ulcers, esophagitis, or candidiasis. 38 The LES may remain closed with insufflation, but the endoscope should pass with gentle pressure. [gastroenterologyandhepatology.net]

Neurologic

  • Excitement

    An unopposed excitation of the LES causes its dysfunction or failure to relax in response to swallowing[ 3, 4 ]. [wjgnet.com]

    It is an exciting time for achalasia as new treatment options including POEM come to light and robotic surgery becomes more available. [bjmp.org]

    Botulinum Toxin Injection As described previously, the loss of inhibitory neurons in the myenteric plexus results in unopposed excitation of the smooth muscles of the LES. This excitatory effect is most likely mediated by acetylcholine. [clinicaladvisor.com]

Workup

[…] monitoring to rule out gastroesophageal reflux disease and determine if abnormal reflux is being caused by treatment Esophagogastroduodenoscopy to rule out cancer of the GEJ or fundus Concomitant endoscopic ultrasonography if a tumor is suspected See Workup [reference.medscape.com]

Endoscopy The primary role of EGD in the workup of achalasia is focused on ruling out a mechanical obstruction or pseudoachalasia as they can mimic achalasia both clinically and manometrically (( 10, 32, 33 )). [gi.org]

[…] physical examination that not only focuses on current symptoms in the history of present illness but also addresses environmental exposures (i.e., infections) as well as family history, particularly of autoimmune diseases, can contribute to directing the workup [clinicaladvisor.com]

X-Ray

  • Esophageal Motility Disorder

    motility disorder of unknown etiology associated with abnormalities in peristalsis and lower esophageal sphincter relaxation. [dovepress.com]

    Chicago Classification (CC) of esophageal motility disorders is widely accepted for the subtyping of AC and defining other esophageal motility disorders of esophagus [ 7 ]. [omicsonline.org]

    […] web 食道運動障害 esophageal motility disorder, motor disorders of the esophagus 食道炎 esophagitis アルカリ性逆流性食道炎 alkaline reflux esophagitis 逆流性食道炎 reflux esophagitis 腐食性食道炎 corrossive esophagitis 食道癌 carcinoma of the esophagus 食道胃接合部癌 cancer of esophagogastric [jsge.or.jp]

    Practice Essentials Achalasia is a primary esophageal motility disorder characterized by the absence of esophageal peristalsis and impaired relaxation of the lower esophageal sphincter (LES) in response to swallowing. [reference.medscape.com]

    Esophageal motility disorders are considered a dynamic and progressive disease spectrum. [revistagastroenterologiamexico.org]

Treatment

CONCLUSION: Adequate comparative data are lacking to determine the ideal treatment of pediatric achalasia. [ncbi.nlm.nih.gov]

See Article on Page 738-745 Balloon dilation (BD) is currently the most commonly performed treatment for achalasia. [kjim.org]

[…] success, was similar with the two treatments. [nejm.org]

Previous treatment except treatment with nitroderivatives 3. Ca++ channel blockers or sildenafil or dilation with Savary bougies or balloons of 2 cm diameter or smaller 4. Pseudo-achalasia 5. Mega-oesophagus (greater than 7 cm) 6. [isrctn.com]

Prognosis

Prognosis The prognosis in IA patients is excellent. Most patients with IA who are appropriately treated have a normal life expectancy but the disease does recur and the patient may need intermittent treatment. [orpha.net]

The prognosis of this disease is good. Uroflowmetry, cystometry and micturating cysto-urethrography are mandatory for the correct diagnosis. © 1977 S. Karger AG, Basel Article / Publication Details First-Page Preview [karger.com]

The prognosis in achalasia patients is excellent. Most patients who are appropriately treated have a normal life expectancy but the disease does recur and the patient may need intermittent treatment. [regione.lazio.it]

Prognosis: 30% success after 1 dilatation, 60% after 2-3 dilatations, the remaining patients should be offered laparoscopic myotomy. Complication: perforation in 4% of the cases. [refluxmedical.com]

Treatment and prognosis Treatment is aimed at allowing adequate drainage of the esophagus into the stomach. [radiopaedia.org]

Etiology

Abstract The most important etiologies of achalasia are idiopathic and related to Chagas' disease. [ncbi.nlm.nih.gov]

Etiology Although the precise etiology is unknown, it is often thought to be either autoimmune, viral immune, or neurodegenerative. [orpha.net]

[…] doi: 10.1097/MCG.0000000000000780 CLINICAL REVIEWS Abstract Author Information Authors Article Metrics Metrics This review examines the etiology and pathogenesis of idiopathic achalasia. [journals.lww.com]

Epidemiology

In the present study, we carried out an epidemiological survey and a genotype-phenotype (G×P) analysis to gain further insights into the etiology of achalasia. [ncbi.nlm.nih.gov]

He was awarded MD by University of Leicester, in 1993, for the study of the epidemiology of inflammatory bowel disease in South Asian migrants. [books.google.de]

Karl-Peter Hopfner Department of Epidemiology, University Medical Center Utrecht, Utrecht, the Netherlands. [nature.com]

Pathophysiology

The pathophysiologic abnormalities may be the final result of several intermeshing mechanisms, and more than one single factor may cause the motor abnormalities. [ncbi.nlm.nih.gov]

1 Validation of new Japanese classification system for esophageal achalasia. ( 30771041 ) 2019 2 Corrigendum to: "Modern Management of Esophageal Achalasia: From Pathophysiology to Treatment," Curr Prob Surg 2018; 55 (1):1-38. ( 30777151 ) Schlottmann [malacards.org]

Comparison between idiopathic achalasia and achalasia caused by Chagas' disease: a review about the pathophysiology of the diseases. Arq Gastroenterol 2003;40:126-30. DOI PubMed 13. Herbella FAM, Oliveira DRFC, Del Grande JC. [misjournal.net]

Prevention

Anti reflux surgery (Dor fundoplication) is performed to prevent reflux. Prevention One cannot prevent the development of Achalasia. Self test Swallowing difficulties may indicate the development of Achalasia. [refluxmedical.com]

[…] population-based cohort study. ( 29985997 ) Wiggins T...Hanna GB 2018 23 New endoscopic finding of esophageal achalasia with ST Hood short type: Corona appearance. ( 30063701 ) Shiwaku H...Hasegawa S 2018 24 Finger-guided Heller cardiomyotomy procedure to prevent [malacards.org]

How can achalasia be prevented? This disease cannot be prevented. There are no known prophylactic drugs or vaccines available. There are no known behavior factors that can prevent the disease, but behavioral changes can help with outcomes. [clinicaladvisor.com]

This could prevent sigmoid-type achalasia[ 37 - 39 ]. [wjgnet.com]

Laparoscopic myotomy with partial fundoplication is superior to other treatment methods because of its excellent efficacy and safety, and also prevent acid exposure in the distal esophagus. [ibimapublishing.com]

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