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Achalasia Cardia: Understanding the Rare Esophageal Disorder

In this presentation, we explore achalasia cardia, a rare and chronic disorder of the esophagus that affects the ability of the lower esophageal sphincter (LES) to relax properly, leading to difficulty in swallowing. We will cover the pathophysiology, focusing on the degeneration of esophageal nerves, clinical symptoms such as dysphagia, regurgitation, and chest pain, as well as the diagnostic tools, including manometry, endoscopy, and barium swallow studies. Additionally, the presentation will highlight the current treatment options, including pneumatic dilation, surgical myotomy, and newer therapies like peroral endoscopic myotomy (POEM), emphasizing the importance of early detection and intervention to improve patient outcomes

1. Achalasia Cardia Dr. Debnarayan jaisy DM RESIDENT Date:2024.02.07

2. A working definition of an esophageal motility disorder is: An esophageal disease attributable to neuromuscular dysfunction that causes symptoms referable to the esophagus, most commonly dysphagia, chest pain, or heartburn. 3 firmly established primary esophageal motility disorders: Achalasia cardia Distal esophageal spasm (DES) GERD

3. Idiopathic achalasia is an archetype esophageal motor disorder, causing significant impairment of eating ability and reducing quality of life. Achalasia is the most easily recognized and best-defined motor disorder of the esophagus. Although rare, it is the most common and best characterised oesophageal motility disorder.

4. Epidemiology Achalasia is equally common in both sexes. Most commonly diagnosed between 40 and 60 years of age, achalasia can present in any age group. Most of the epidemiological data is derived from retrospective studies as population-based studies are scarce because of the rarity of achalasia. Idiopathic achalasia is a primary motility disease of the esophagus that has a worldwide prevalence of 10 individuals in every 100000 and 1 new case reported per year for every 100000.

5. Aetiopathogenesis Achalasia is characterized by impaired LES relaxation with swallowing and aperistalsis in the smooth muscle esophagus. Physiologic alterations result from damage to the innervation of the smooth muscle segment of the esophagus (including the LES) with loss of ganglion cells within the myenteric (Auerbach) plexus. Fewer ganglion cells and ganglion cells surrounded by mononuclear inflammatory cells in the smooth muscle esophagus of achalasics has been reported. The degree of ganglion cell loss parallels the duration of disease

6. The remainder of the esophagus consists of outer longitudinal and inner circular smooth muscle, with specialized circular muscle at the distal end forming the LES. Smooth muscle innervation is indirect, through ganglia and neuronal plexus in between the two muscle layers (Auerbach’s plexus). Post ganglionic nerve fibers can be excitatory to both muscle layers, and inhibitory to the circular smooth muscle. The LES has a resting tone that keeps the lumen closed at rest, influenced by both muscle tone and vagal stimulation. Vagal inhibition determines LES relaxation, which is compromised in achalasia spectrum disorders.

7. Postganglionic denervation of esophageal smooth muscle potentially affect excitatory ganglion neurons (cholinergic), inhibitory ganglion neurons (NO ± VIP), or both. Muscle strips from the circular layer of the esophageal body of achalasics contract when directly stimulated by ACh but fail to respond to ganglionic stimulation by nicotine, indicating a postganglionic excitatory defect. Achalasics have been shown to lack NO synthase and have a marked reduction of VIP-staining neurons in the gastroesophageal junction.

8. There is substantial evidence of impaired esophageal postganglionic inhibitory innervation in achalasics. CCK, which normally stimulates the inhibitory ganglion neurons and thus reduces LES pressure, paradoxically increases LES pressure in achalasics. Impaired inhibitory innervation of the smooth muscle esophagus above the LES has been more difficult to demonstrate because of the absence of resting tone in this region.

9. The ultimate cause of ganglion cell degeneration in idiopathic achalasia is an autoimmune process in genetically susceptible individuals. Analysis of the myenteric plexus infiltrate in achalasia patients revealed that the majority of inflammatory cells are either resting or activated cytotoxic T cells. Antibodies against myenteric neurons have been detected in sera of achalasia patients, especially in patients with specific HLA alleles. Trigger for initiating the autoimmune response is suspected to be a chronic or latent human herpes virus 1 (HSV-1) infection. HSV-1 was also detected in LES tissue from nonachalasic organ donors, suggesting that the development of achalasia is dependent on both the virus and a genetic predisposition.

10. There is a rare genetic achalasia syndrome associated with adrenal insufficiency and alacrima. Autosomal recessive disease which Manifests with childhood onset of autonomic nervous system dysfunction including: Achalasia Alacrima Sinoatrial dysfunction Abnormal pupillary responses to light Delayed gastric emptying. It is caused by mutations in AAAS, which encodes a protein known as ALADIN. Allgrove syndrome or triple A syndrome

11. Clinical Features Dysphagia is a fundamental symptom of esophageal motility disorders. Oropharyngeal Dysphagia Esophageal Dysphagia Associated aspiration Heartburn Nasopharyngeal regurgitation Regurgitation Cough Chest pain, Pharyngeal residue following swallow Odynophagia Drooling Intermittent esophageal obstruction Co-occurring neuromuscular dysfunction (e.g., weakness, paresthesia, slurred speech)

12. All patients have solid food dysphagia; The majority of patients also have variable degrees of liquid dysphagia. The onset of dysphagia is usually gradual, and often present for years at the time of presentation. The severity of dysphagia fluctuates but eventually plateaus. Chest pain is a complaint early in the course of achalasia in approximately two thirds of patients. Its etiology is unknown, but is thought to be related to the occurrence of esophageal spasm (more recently, proposed to be spasm of longitudinal muscle). With advanced achalasia, up to 10% of cases have bronchopulmonary complications as a result of regurgitation and aspiration; These complications rather than dysphagia that prompts them to seek medical care

13. Many achalasics complain of heartburn even after the onset of dysphagia. Although reflux may be a common sequela of the treatments for achalasia, Ambulatory 24-hour esophageal pH studies of achalasics have only shown periods of esophageal acidification Bacterial fermentation of retained food in the esophagus, rather than discrete gastroesophageal reflux events.

14. Eckardt score – a clinical score for Achalasia Eckardt score is used to assess the severity of achalasia symptoms. It is based on four major achalasia symptoms: dysphagia, regurgitations, chest pain, and weight loss. It is used to evaluate the efficiency of a treatment durring the follow-up. An Eckardt score less than 3 points is considered as remission of the disease.

15. DIFFERENTIAL DIAGNOSIS Misdiagnosed as GERD – especially with chest pain & heartburn . Other Esophageal motility disorders - DES and Jackhammer esophagus may also present with dysphagia to solids and liquids. Pseudoachalasia – Malignancy can cause pseudoachalasia either by invading the esophageal neural plexuses directly. Similar manometry but UGIE and EUS diagnostic. Chagas Disease - chronic phase – develops up to 20 years after infection -destruction of autonomic ganglion - heart , gut, urinary & respiratory tract. Postsurgical Dysfunction - Dysphagia is common in the early period following fundoplication

16. DIAGNOSIS Dysphagia is the cardinal symptom of achalasia. Diagnosis requires a high index of suspicion and exclusion of other causes. Diagnosis is confirmed by manometric, endoscopic and radiographic investigations. Oesophageal manometry is regarded as the gold standard in the diagnosis of achalasia, classically showing aperistalsis and failure of relaxation of the lower oesophageal sphincter

17. Endoscopy Upper endoscopy should be the first test for evaluating new onset dysphagia. It combines the ability to detect most structural causes of dysphagia with the ability to obtain biopsies. It has substantial limitations In assessing extraluminal structures Abnormal esophageal motility. Potential to miss subtle obstructing lesions such as webs and rings.

18. Conventional endoscopic features The endoscopic findings described in the Japanese guidelines for esophageal achalasia : (a) functional stenosis of the esophagogastric junction (EGJ), (b) wrapping around EGJ, (c)abnormal contraction of the esophageal body, (d) mucosal thickening and whitish change, (e)dilation of the esophageal lumen, (f) liquid remnant (g) food remnant.

19. Radiography The usual findings on a plain chest X-ray are: Widening of the mediastinum, due to esophageal dilation. Absence of the normal gastric air.

20. Barium swallow Barium swallow is the primary screening test. Barium swallow typically shows a dilated esophagus that terminates in a beak-like narrowing as a result of contraction in the LES. When dilation is very severe, the esophagus may have a sigmoid shape. The overall sensitivity of barium swallow for diagnosis of achalasia is approximately 95%.

21. Timed Barium Oesophagogram Timed barium oesophagogram (TBE) is the imaging of choice in achalasia. After swallowing 100–250 mL of barium (45% weight/volume) over 15–20 seconds, an X ray is performed at 1, 2, and 5 minutes. Delayed emptying of the barium from the oesophagus, tertiary contractions, and bird-beak appearance on the X-ray are the characteristic features. Post treatment TBE is compared to pretreatment TBE to assess response to therapy. In late stages of achalasia: Megaoesophagus (oesophageal diameter: >7 cm) Sigmoid oesophagus (dilated, tortuous oesophagus)

22. Manometry Manometry is the most sensitive tool for diagnosis of achalasia. Esophageal manometry is a test in which intraluminal pressure sensors are positioned within the esophagus Measure the contractile characteristics of the esophagus and segregate it into functional regions.

23. Characteristic manometric features Elevated resting LES pressure (usually > 45 mmHg) Incomplete LES relaxation Aperistalsis in the smooth muscle portion of the body of the esophagus . Swallows may be followed by either no esophageal contraction or simultaneous contractions. Resting pressure in the body of the esophagus is slightly higher than in the stomach.

24. In most patients the amplitude of esophageal contractions is low. On the other hand, in vigorous achalasia the simultaneous esophageal contractions have high amplitudes (e.g. > 60 mmHg). Some studies have suggested that vigorous achalasia may represent an early form of achalasia in which some inhibitory ganglion cells may not yet be destroyed. Patients with vigorous achalasia may benefit more from botulinum toxin injection than those with classic achalasia.

25. High Resolution Manometry (HRM) The concept of high-resolution esophageal manometry is to use a sufficient number of pressure sensors within the esophagus . Intraluminal pressure can be monitored as a continuum along the length of the esophagus. HRM is coupled with sophisticated algorithms to display the manometric data as pressure topography plots. Esophageal contractility is visualized with isobaric conditions among sensors indicated by isocoloric regions on the pressure topography plots.

26. Esophageal manometry Metrics Contractile Function HRM assessment of esophageal contractile function is based on: Integrated Relaxation Pressure The distal contractile integral (DCI) Distal latency (DL) Peristaltic integrity Integrated Relaxation Pressure The IRP is the most discriminatory HRM metric according to the Chicago Classification. The IRP is a measure of deglutitive relaxation based on four seconds of the lowest mean axial pressure, continuous or discontinuous, across the LES during the 10-second period after a swallow. An abnormal IRP indicates abnormal transit across the EGJ

27. Esophageal manometry Metrics The distal contractile integral (DCI) Measures the vigor of peristalsis in the smooth muscle esophagus. The DCI is determined by summing pressures exceeding 20mmHg within the time/length field spanning the smooth muscle transition zone to the proximal aspect of the EGJ. DCI values are calculated as units of mmHg·s·cm. According to Chicago Classification v4.0, a DCI greater than 8,000 mmHg·s·cm indicates hypercontractility, whereas DCI values below 450 mmHg·s·cm signify weak peristalsis

28. Esophageal manometry Metrics Distal latency (DL) The DL is a time measurement from the start of swallow-induced UES opening to arrival of esophageal contraction at the contractile deceleration point, the inflection point in the wavefront velocity proximal to the EGJ. A swallow is considered premature or spastic if the DL is less than 4.5 seconds. Borderline normal DL values (e.g., 4.5 to 5.5 seconds) may indicate a spastic disorder in evolution.

29. Esophageal manometry Metric Peristaltic integrity evaluated by the presence of spatial breaks or gaps in the peristaltic contraction across the UES to the EGJ under a 20mmHg isobaric contour. According to Chicago Classification , breaks longer than 5cm indicate a fragmented. swallow. Esophageal Pressurization An added advantage of HRM is the ability to assess intrabolus pressurization patterns. Esophageal pressurization occurs when swallowed liquid is trapped between two contracting segments of the esophagus, and is abnormal when pressurization exceeds 30mmHg. Pressurization spanning the UES to the EGJ is considered panesophageal pressurization, and is the defining feature of type II achalasia.

30. Chicago classification III

31. Introduction of chicago classification IV

32. INTRALUMINAL IMPEDANCE

33. Functional lumen imaging probe (FLIP) The FLIP provides a three-dimensional image of the esophageal lumen through use of high-resolution impedance planimetry to measure pressure changes, diameter and volume. By measuring distensibility, the FLIP can measure esophageal wall stiffness and the dynamics of esophagagogastric junction (EGJ) opening

34. evaluation of patients with newly diagnosed achalasia with FLIP topography demonstrated evidence of esophageal contractility in most cases, even among those without contractility observed on high-resolution manometry (37% of type I achalasia and 65% of type II achalasia). Patients with spastic (type III) achalasia, demonstrated a novel pattern of repetitive, retrograde contractions. The contractility detected by FLIP in achalasia may represent contractions not detected on manometry due to lack of contact pressure on the manometry catheter or those masked by pressurization. Intra-operative use of FLIP during laparoscopic Heller myotomy or per-oral endoscopic myotomy (POEM) also offers the ability to assess the LES myotomy in real-time.

35. Management Symptomatic relief of dysphagia and associated complications are the goals of achalasia treatment. As pathophysiology is poorly understood,underlying neuropathology of achalasia cannot be corrected. There is no currently available treatment directed towards pathogenetic factors. Treatment is guided by surgical risk of the patient and achalasia subtype.

36. From a conceptual vantage point, Types I and II represent a continuum, Type II being early disease before the progression of esophageal dilatation characteristic of type I. Type III is a subtype characterized by spasm of the distal esophagus.

37. Pharmacologic Therapy Smooth muscle relaxants such as nitrates or calcium channel blockers , administered sublingually immediately prior to eating, can relieve dysphagia in achalasia by reducing the LES pressure. Nitrates - not prefered because of side effects and limited efficacy Calcium channel blockers (mainly nifedipine) the limiting side effects are flushing, dizziness, headache, peripheral edema, and orthostasis. Sublingual nifedipine (30 to 40 mg/day) administered before meals was studied in 29 patients with early achalasia and was significantly better than placebo, with good results in 70% of achalasics followed for 6 to 18 months. subsequent placebo-controlled crossover trial of nifedipine found minimal benefit.

38. Sildenafil (Viagra) is another smooth muscle relaxant that can decrease LES pressure in patients with achalasia by blocking phosphodiesterase type 5 , the enzyme that metabolizes the cyclic guanosine monophosphate induced by NO. A double-blind placebo-controlled trial found that 50 mg of sildenafil significantly reduced LES pressure and LES relaxation pressure when compared to placebo. The effect peaked at 15 to 20 minutes after administration and persisted for less than 1 hour. Although conceptually appealing, the practicality of using sildenafil clinically is limited by its cost and potential side effects.

39. Botulinum Toxin Injection The rationale of using BT in achalasia is because of the associated blockade of acetylcholine from the presynaptic cholinergic neurons, Which are relatively preserved in comparison to the selective loss of inhibitory nitrinergic ganglion cells in achalasia. The initial landmark study of botulinum toxin in achalasia reported that intrasphincteric injection of 80 units of botulinum toxin decreased LES pressure by 33% and improved dysphagia in 66% of patients for a 6-month period. effect is eventually reversed by the growth of new axons, it is not a long-lasting therapy.

40. The technique involves injecting aliquots of botulinum toxin into 4 quadrants of the LES with a sclerotherapy catheter. Side effects can include: chest discomfort for several days occasional rash. Although many patients initially experience a good response, there is minimal continued efficacy at 1 year. Repeat injection can be effective, but the injections lead to a local inflammatory reaction and fibrosis, ultimately limiting that strategy.

41. (A) An injection needle is used to make injections at (B, C) the squamocolumnar junction, or up to 1 cm proximally. Then, 100 IU in total is injected in four to five equal volume aliquots, to (D) equally space the injections in a circumferential manner, and at the same level.

42. Predictors for long-term success of BTI Panesophageal pressurization is found to be a predictor of a positive treatment response, whereas spastic achalasia is associated with a negative treatment response. The duration of illness, baseline radiographic features, initial symptom severity, and sex have not been shown to be predictive of response. Patients older than 50 years of age have nearly double the response rate, compared with younger patients .

43. Possible complications BTI for achalasia has an excellent safety profile. Transient chest pain 20% of patients. Significant heartburn is reported in 5–10% of patients. Isolated case reports of potential adverse events have included : heart block, urinary retention, and pneumothorax. Concerns regarding the potential for systemic neuromuscular paralysis have not been realized in gastrointestinal or neurologic applications, because the doses used in practice are 20–30-fold lower than the lethal doses reported in previous studies.

44. Pneumatic Dilation Tears the LOS by forceful stretching with air-filled balloons. PD is one of the recommended initial treatments for achalasia and is widely performed across various centres. balloon dilator are available in three sizes: 30, 35, and 40 mm, is used. Therapeutic dilation for achalasia requires distension of the LES to a diameter of at least 3 cm to effect lasting reduction of LES pressure.

45. Patients with the best outcomes after pneumatic dilatation are those older than 40 years, women, and those with a type II pattern by HRM. The most cost-effective treatment for achalasia over a 5–10-year period after the procedure is pneumatic dilatation. Contraindications to pneumatic dilatation are poor cardiopulmonary status or other comorbid illnesses that would prevent surgery should an oesophageal perforation occur. Pneumatic dilatation can be done safely after a failed Heller myotomy

46. Procedure related complications after pneumatic dilatation : Chest pain Aspiration pneumonia Bleeding Transient fever Mucosal tear without perforation Oesophageal haematoma.

47. Per Oral Endoscopic Myotomy (POEM) Hybrid technique - developed for treating achalasia - endoscopy to achieve a surgical myotomy . Transverse mucosal incision - mid-esophagus, entering it, - creating a submucosal tunnel – up to gastric cardia – using forward -viewing endoscope with transparent distal cap & triangular dissection knife . As tunnel is complete - endoscope withdrawn - selective myotomy of circular muscle accomplished - 2cm distal to GEJ – Electrocautery tool, seal incision. POEM - success rates > 90%, Recent meta-analysis - found POEM to be more effective than LHM in relieving dysphagia in the short term.

48. Per Oral Endoscopic Myotomy (POEM) A hybrid technique has been developed for treating achalasia, essentially using endoscopy to achieve a surgical myotomy.

49. Laparoscopic Heller’s Myotomy Current surgical procedures – are variations on the esophagomyotomy - by Heller in 1913 . Modified - Anterior Myotomy via thoracotomy – more predictable method  LES pressure. Open Heller myotomy – a/w considerable morbidity than laparoscopic. Post- myotomy GER - particularly severe – easily controlled with PPIs. Excellent results - 62% to 100% of pts - persistent dysphagia < 10 % .

50. Lap. Heller myotomy + partial fundoplication ( Toupet or Dor ) - preferred surgical procedure for achalasia . It has a response rate of 90–97% with recurrent Laparoscopic incision is made anteriorly from 6 cm above the GEJ to 3 cm beyond, preserving cardiooesophageal fat and the anterior vagus nerve. Post-LHM GERD with extended myotomy can be minimised by concurrent fundoplication (posterior Toupet fundoplication at 270° is a better antireflux procedure than anterior Dor fundoplication at 180°).

51. Adverse events with LHM include : Oesophageal perforation (1–7%) caused by inadvertent mucosal injury, Recurrent dysphagia caused by incomplete myotomy (3–10%), GERD (2–26%), postvagotomy diarrhoea/dumping syndrome caused by division of the vagus nerve, splenic injury (1–5%). In sigmoid oesophagus and Type III achalasia, the results of LHM are suboptimal. LHM has equal efficacy compared to PD with greater durability in young males.

52. Treatment F ailure Persistent dysphagia – after treatment - treatment failure - evaluated with Endoscopy , HRIM, Functional luminal imaging probe , & Fluoroscopy. Endoscopy - esophagitis, stricture, paraesophageal hernia, or anatomic deformity. HRIM - useful to quantify persistent or recurrent sphincter dysfunction, distal spasm, or esophageal retention. Functional luminal imaging probe - identify a poorly distensive sphincter. Fluoroscopy - identify anatomic problems, evaluate timed barium swallow esophageal emptying Already undergone myotomy – reoperation or pneumatic dilation can be pursued.

53. Risk of Squamous cell carcinoma Develop many years after the diagnosis of achalasia - arise in a greatly dilated esophagus with stasis esophagitis. Symptoms – delayed - often large and advanced at the time of detection. Squamous cell cancer risk for achalasics -17 -fold than age -matched controls. 0.15 % cancer incidence. 406 in men & 2220 endoscopies in women before 1 potentially treatable tumor was found. Latest ASGE guidelines do not advocate routine endoscopic surveillance If surveillance was considered - begin 15 years after the onset of achalasia symptoms .