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Achalasia razan alsawadi copy
- 1. Achalasia Razan Adib Al-sawadi TopicPresentation IM 471 1 Regurgitation, often at night when lying down, with nocturnal cough; possibly chest pain precipitated by eating
- 2. Definition Epidemiology Etiology and Pathogenesis ClinicalManifestations Differential Diagnosis Investigations Treatment and Management Summary MCQs 2
- 3. Definition: progressive degeneration ofganglion cells in the myenteric plexus in the esophageal wall, leading to failure of relaxation of the lower esophageal sphincter, accompanied by a loss of peristalsis in the distal esophagus. 3 Epidemiology: uncommon disorder with an annual incidence of approximately 1.6 cases per 100,000 individuals Men and women are affected equally. usually diagnosed in patients between 25 and 60 years.
- 4. Etiology: primary / idiopathicvs Secondary • Example of 2ry causes: Chagas disease and Other diseases that have been associated with achalasia-like motor abnormalities include amyloidosis, sarcoidosis, neurofibromatosis, eosinophilic esophagitis. 4
- 5. PATHOGENESIS inflammation and degenerationof inhibitory neurons in the esophageal wall. The cause is not known (could be triggered by an antibody response to viral infections: HSV, measles) +A genetic predisposition ( suggested by association with variants in the HLA-DQ region and by its occurrence in genetic syndromes. 5 aperistalsisesophagogastric junction outflow obstruction) Subtle defect in The UES belch reflex
- 6. CLINICAL FEATURES • Achalasiahas an insidious onset, progression is gradual. • Dysphagia for solids and liquids and regurgitation of bland undigested food or saliva are the most frequent symptoms in patients with achalasia • aspiration • Patients may also induce vomiting to relieve a sensation of retrosternal fullness after a meal. • difficulty belching • Substernal chest pain and heartburn • hiccups due to obstruction of the distal esophagus. • In order to overcome the distal obstruction, affected patients eat more slowly and often adopt specific maneuvers such as lifting the neck or throwing the shoulders back in order to enhance esophageal emptying. 6
- 7. DIFFERENTIAL DIAGNOSIS Gastroesophagealreflux disease Pseudoachalasia Other esophageal motility disorders 7
- 8. DIAGNOSTIC EVALUATION • Diagnosticapproach — Achalasia should be suspected in the following patients: • Dysphagia to solids and liquids • Heartburn unresponsive to a trial of proton pump inhibitor therapy • Retained food in the esophagus on upper endoscopy • Unusually increased resistance to passage of an endoscope through the esophagogastric junction (EGJ) 8
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- 10. Radiographic findings — •A plain radiograph of the chest may reveal: • widening of the mediastinum due to the dilated esophagus. • The normal gastric air bubble may be absent due to the failure of lower esophageal sphincter relaxation that prevents air from entering the stomach. • Findings on barium esophagram: 10
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- 12. Pneumatic dilation • themost cost-effective treatment for type II achalasia • less invasive as compared with surgical myotomy or POEM • Initial success rates are high, but efficacy wanes over time • Postprocedure complications include symptomatic esophageal perforation (approximately 2 percent) and heartburn 12 Surgical myotomy • LES is weakened by cutting its muscle fibers • Since LES disruption can cause reflux esophagitis, it is frequently combined with an antireflux procedure such as a partial fundoplication • As with endoscopic procedures, symptom relief wanes with time and patients often require retreatment. • Complications of laparoscopic myotomy include gastroesophageal reflux disease (GERD), perforation, pneumothorax, bleeding, vagal injury, and infection VS
- 13. Peroral endoscopic myotomy(POEM) • good results for POEM also have been reported in patients with achalasia conditions that often do not respond well to conventional therapies such as type III (spastic) achalasia and "end stage" achalasia (markedly dilated, sigmoid esophagus), and in patients who have failed prior endoscopic and surgical achalasia treatments • POEM includes no antireflux procedure. Consequently, POEM can result in GERD. • adverse procedure-related events (including pneumothorax, bleeding, mucosal perforations and pleural effusions) 13
- 14. Botulinum toxin injection •considered in patients who are not good candidates for more definitive therapy with pneumatic dilation, surgical myotomy, or POEM. Botulinum toxin injected into the LES poisons the excitatory (acetylcholine-releasing) neurons • advantage of being less invasive as compared with surgery and can be easily performed during routine endoscopy. Initial success rates with botulinum toxin are comparable to pneumatic dilation and surgical myotomy. However, patients have more frequent relapses. 14
- 15. Pharmacological therapy • theleast effective treatment option in patients with achalasia, but should be considered in patients who are unwilling or unable to tolerate invasive therapy for achalasia and for patients who have failed botulinum toxin injections. • Because nitrates are short-acting, sublingual isosorbide dinitrate/Sublingual nitroglycerin (5 mg) is administered 10 to 15 minutes before meals. 15
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- 17. Summary • Achalasia isprogressive degeneration of ganglion cells in the myenteric plexus in the esophageal wall, leading to failure of relaxation of the lower esophageal sphincter, accompanied by a loss of peristalsis in the distal esophagus. • Pathogenesis: inflammation and degeneration of inhibitory neurons + genetic predisposition. • Onset: insidious, MC symptoms: Dysphagia for solids and liquids and regurgitation of bland undigested food or saliva • Diagnosed by esophageal manometry • Treated by: surgical (pneumatic dIlation, myotomy) VS medical (Botox injection, nitrares) 17
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- 20. References • Davidson’s • Harrison’s •UpToDate ~ you are only responsible for the effort, not the outcome~
Editor's Notes
- #5 In Chagas disease, esophageal infection with the protozoan parasite Trypanosoma cruzi can result in a loss of intramural ganglion cells,
- #6 achalasia is associated with variants in the HLA-DQ region and that affected patients often have circulating antibodies to enteric neurons suggest that achalasia is an autoimmune disorder Some investigators have proposed that the inflammatory attack on esophageal neurons in achalasia is triggered by an antibody response to viral infections (eg, herpes zoster, measles viruses), but data have been inconclusive [16,17]. A study evaluating T cells in patients with achalasia found reactivity to HSV-1, suggesting that achalasia may be triggered by HSV-1 infection [18]. —— - This inflammatory degeneration preferentially involves the nitric oxide-producing, inhibitory neurons that affect the relaxation of esophageal smooth muscle; the cholinergic neurons that contribute to lower esophageal sphincter (LES) tone may be relatively spared [21]. > the basal sphincter pressure to rise, and renders the sphincter muscle incapable of normal relaxation. In the smooth muscle portion of the esophageal body, the loss of inhibitory neurons results in aperistalsis [23]. both impair esophageal emptying; however, most of the symptoms and signs of achalasia are due primarily to the defect in LES relaxation (esophagogastric junction outflow obstruction). In addition, patients with achalasia may also have a subtle defect in reflex relaxation of the upper esophageal sphincter (UES) [25]. The abrupt esophageal distention that results when gas from the stomach suddenly enters the esophagus normally triggers a reflex relaxation of the UES, thereby allowing the gas to escape through the mouth in the form of a belch. The UES belch reflex can be demonstrated experimentally by injecting air into the esophagus. In normal subjects, esophageal air injection causes UES relaxation that is accompanied by an audible belch. In patients with achalasia, however, air injected into the esophagus frequently causes a paradoxical increase in UES pressure without a belch. This abnormal reflex presumably results from the loss of inhibitory neurons, although the precise neural pathways that affect the reflex are not clear. The inability to burp in some patients with achalasia may contribute to the esophageal distention and chest pain that often accompany the disease. Patients with achalasia may also have impaired gastric relaxation [26]
- #7 Rapid progression of dysphagia and profound weight loss are suggestive of pseudoachalasia due to a malignancy. Patients typically experience symptoms for years prior to seeking medical attention. The delay in diagnosis was mainly due to misinterpretation of typical clinical features. Patients are often treated for other disorders including gastroesophageal reflux disease (GERD) before the diagnosis of achalasia is established [28]. Patients frequently report retrosternal burning discomfort similar to the heartburn typical of GERD.
- #10 Diagnostic manometric findings of achalasia are: incomplete relaxation of the lower esophageal sphincter (LES) (integrated relaxation pressure above the upper limit of normal) aperistalsis in the distal two thirds of the esophagus.
- #11 Barium esophagram — Findings on barium esophagram that are suggestive of achalasia include: Dilation of the esophagus. In patients with late- or end-stage achalasia the esophagus may appear significantly dilated (megaesophagus), angulated, and tortuous, giving it a sigmoid shape. Narrow EGJ with "bird-beak" appearance caused by the persistently contracted LES (image 2A-B). Aperistalsis. Delayed emptying of barium. barium esophagram is not a sensitive test for achalasia, as it may be interpreted as normal in up to one-third of patients
- #12 High-resolution manometry may have a higher sensitivity in diagnosing achalasia? as it provides enhanced detail in the characterization of achalasia and the morphology of the EGJ [37,38]. High-resolution manometry can also be used to accurately categorize achalasia into one of three distinctive subtypes Achalasia is diagnosed on high-resolution manometry by an elevated median integrated relaxation pressure (IRP), which indicates impaired EGJ relaxation, and absence of normal peristalsis. The IRP is the median of the maximal relaxation pressures of the EGJ in four seconds during the 10-second window of EGJ relaxation that follows a swallow. The upper limit of normal median IRP value varies among manometry systems; for the most widely used system at this time, an elevated median IRP is identified as ≥15 mmHg. Conventional manometry —and incomplete LES relaxation are diagnostic findings of achalasia on conventional manometry. Elevated resting LES pressure is supportive of the diagnosis of achalasia, but is not always present and is not diagnostic [45]. …. Typical conventional manometric findings: Aperistalsis (Swallows may elicit no esophageal contraction or may be followed by simultaneous contractions with amplitudes <40 mmHg.) in the distal two-thirds of the esophagus incomplete LES relaxation In normal individuals: complete relaxation of the LES after a swallow (to a level <8 mmHg above gastric pressure) in patients with achalasia, LES relaxation in response to a swallow may be incomplete or absent with a mean swallow-induced fall in resting LES pressure to a nadir value of >8 mmHg above gastric pressure. Elevated resting LES pressure Loss of inhibitory neurons in patients with achalasia can cause resting LES pressures to rise to hypertensive levels (above 45 mmHg).
- #13 Forceful dilation with pneumatic balloon dilation of the LES weakens the LES by circumferential stretching or tearing of its muscle fibers Multiple endoscopies are frequently required for graded pneumatic dilation must be good surgical candidates because perforations related to pneumatic dilation may require surgical repair. -- no significant difference between the groups with regard to therapeutic success. After up to one year of follow-up, surgical myotomy was more effective than PD (86 versus 77 percent) and was associated with fewer adverse events (0.6 versus 5 percent). However, there were no differences in postprocedure lower esophageal sphincter pressure, rate of gastroesophageal reflux, and quality of life.