esophageal achalasia esophageal achalasia esophageal achalasia, often referred to simply as achalasia, is a failure of smooth muscle fibers to relax, which can cause the lower esophageal sphincter to remain closed. without a modifier, "achalasia" usually refers to achalasia of the esophagus. achalasia can happen at various points along the gastrointestinal tract; achalasia of the rectum, for instance, may occur in hirschsprung's disease. the lower esophageal sphincter is a muscle between the esophagus and stomach that opens when food comes in. it closes to avoid stomach acids from coming back up. a fully understood cause to the disease is unknown, as are factors that increase the risk of its appearance. suggestions of a genetically transmittable form of achalasia exist, but this is neither fully understood, nor agreed upon. esophageal achalasiaother namesachalasia cardiae, cardiospasm, esophageal aperistalsis, achalasiaa chest x-ray showing achalasia ( arrows point to the outline of the massively dilated esophagus )pronunciation/ˌækəˈleɪziə/ specialtygastroenterology, thoracic surgery, general surgery, laparoscopic surgerysymptomsanorexia (but willing and trying to eat), inability to swallow food, chest pain comparable to heart attack, lightheadedness, dehydration, excessive vomiting after eating (often without nausea).usual onsetnormally in mid-to-late life, rarely during youthdurationlifelongtypes1st stage – 2–3 cm dilated, 2nd stage – 4–5 cm dilated, bird beak looking, 3rd stage – 5–7 cm, dilated 4th / late-stage – 8+ cm dilated, sigmoidcausesunknownrisk factorsinconclusive, but possibly: history of autoimmune disorders, air-hunger that accompanies anxiety, faulty eating habits, improper dietdiagnostic methodesophageal manometry, biopsy, x-ray, barium swallow study, endoscopypreventionno method of preventiontreatmentheller myotomy and fundoplomy, poem, pneumatic dilation, botulinum toxinprognosis~76% chance of survival after 20 years (in a western country such as germany)frequency~1 in 100,000 peopledeaths829 in a period of 1-8 years study out of a 28 demographic, 754 million record pool. esophageal achalasia is an esophageal motility disorder involving the smooth muscle layer of the esophagus and the lower esophageal sphincter (les). it is characterized by incomplete les relaxation, increased les tone, and lack of peristalsis of the esophagus (inability of smooth muscle to move food down the esophagus) in the absence of other explanations like cancer or fibrosis. achalasia is characterized by difficulty in swallowing, regurgitation, and sometimes chest pain. diagnosis is reached with esophageal manometry and barium swallow radiographic studies. various treatments are available, although none cures the condition. certain medications or botox may be used in some cases, but more permanent relief is brought by esophageal dilatation and surgical cleaving of the muscle (heller myotomy). the most common form is primary achalasia, which has no known underlying cause. it is due to the failure of distal esophageal inhibitory neurons. however, a small proportion occurs secondary to other conditions, such as esophageal cancer, chagas disease (an infectious disease common in south america) or triple-a syndrome. achalasia affects about one person in 100,000 per year. there is no gender predominance for the occurrence of disease. the term is from a- + -chalasia "no relaxation." achalasia can also manifest alongside other diseases as a rare syndrome such as achalasia microcephaly. signs and symptoms the main symptoms of achalasia are dysphagia (difficulty in swallowing), regurgitation of undigested food, chest pain behind the sternum, and weight loss. dysphagia tends to become progressively worse over time and to involve both fluids and solids. some people may also experience coughing when lying in a horizontal position. the chest pain experienced, also known as cardiospasm and non-cardiac chest pain can often be mistaken for a heart attack. it can be extremely painful in some patients. food and liquid, including saliva, are retained in the esophagus and may be inhaled into the lungs (aspiration). untreated, mid-stage achalasia can fully obstruct the passage of almost any food or liquid – the greater surface area of the swallowed object often being more difficult to pass the les/los (lower esophageal sphincter). at such a stage, upon swallowing food, it entirely remains in the esophagus, building up and stretching it to an extreme size in a phenomenon known as megaesophagus. if enough food builds up, it triggers a need to purge what was swallowed, often described as not being accompanied with nausea per-se, but an intense – sometimes uncontrollable need to vomit what was built up in the esophagus, that due to the excessive stretching of the esophageal walls, is easily released without heaving. this cycle is so that little to practically no food reaches the small intestines to have its nutrients be absorbed into the bloodstream, leading to progressive weight loss, anorexia, eventual starvation, and death, the final of which may not always be listed as "death by achalasia", contributing to the already inaccurate and/or inconclusive count of deaths caused by the disease, not to mention the variable of other medical factors that could accelerate death of an achalasia patient's already weakened body. late-stage achalasia end-stage achalasia, typified by a massively dilated and tortuous oesophagus, may occur in patients previously treated but where further dilatation or myotomy fails to relieve dysphagia or prevent nutritional deterioration, and esophagectomy may be the only option. we describe two patients with end-stage achalasia and nutritional failure despite exhaustive conventional therapy including pneumatic dilatation and surgical myotomy. both patients were successfully managed with transhiatal oesophagectomy and cervical gastro-esophageal anastomosis, with excellent symptomatic control and improved quality of life. these cases are discussed and the literature reviewed. end stage disease, characterised by a markedly dilated and tortuous "burned-out" esophagus and recurrent obstructive symptoms, may require oesophageal resection in order to restore gastro-intestinal function, reverse nutritional deficits and reduce the risk of aspiration pneumonia. transhiatal oesophagectomy specimen from a patient with late-stage achalasia. diverticulum at the left lower end of the oesophagus. a review of the literature shows similar results with good symptom control reported in 75–100% of patients undergoing such a procedure. however, oesophagectomy is not without risk, and every patient must be fully informed of all associated risks. reported mortality rates of 5–10% are described, while morbidity rates of up to 50% have been reported, and anastomotic leak in 10–20% of patients. patients must also be informed of longer-term complications. anastomotic stricture has been reported in up to 50% of patients, depending on length of post-operative follow-up.11 dumping syndrome, reported in up to 20% of patients,16 tends to be self-limiting and may be managed medically if necessary, and vagal-sparing oesophagectomy may reduce this risk. mechanism the cause of most cases of achalasia is unknown. les pressure and relaxation are regulated by excitatory (e.g., acetylcholine, substance p) and inhibitory (e.g., nitric oxide, vasoactive intestinal peptide) neurotransmitters. people with achalasia lack noradrenergic, noncholinergic, inhibitory ganglion cells, causing an imbalance in excitatory and inhibitory neurotransmission. the result is a hypertensive nonrelaxed esophageal sphincter. autopsy and myotomy specimens have, on histological examination, shown an inflammatory response consisting of cd3/cd8-positive cytotoxic t lymphocytes, variable numbers of eosinophils and mast cells, loss of ganglion cells, and neurofibrosis; these events appear to occur early in achalasia. thus, it seems there is an autoimmune context to achalasia, most likely caused by viral triggers. other studies suggest hereditary, neurodegenerative, genetic and infective contributions. diagnosis an axial ct image showing marked dilatation of the esophagus in a person with achalasia. due to the similarity of symptoms, achalasia can be mistaken for more common disorders such as gastroesophageal reflux disease (gerd), hiatus hernia, and even psychosomatic disorders. specific tests for achalasia are barium swallow and esophageal manometry. in addition, endoscopy of the esophagus, stomach, and duodenum (esophagogastroduodenoscopy or egd), with or without endoscopic ultrasound, is typically performed to rule out the possibility of cancer. the internal tissue of the esophagus generally appears normal in endoscopy, although a "pop" may be observed as the scope is passed through the non-relaxing lower esophageal sphincter with some difficulty, and food debris may be found above the les. barium swallow "bird's beak" appearance and "megaesophagus", typical in achalasia.the patient swallows a barium solution, with continuous fluoroscopy (x-ray recording) to observe the flow of the fluid through the esophagus. normal peristaltic movement of the esophagus is not seen. there is acute tapering at the lower esophageal sphincter and narrowing at the gastro-esophageal junction, producing a "bird's beak" or "rat's tail" appearance. the esophagus above the narrowing is often dilated (enlarged) to varying degrees as the esophagus is gradually stretched over time. an air-fluid margin is often seen over the barium column due to the lack of peristalsis. a five-minutes timed barium swallow can provide a useful benchmark to measure the effectiveness of treatment. esophageal manometry schematic of manometry in achalasia showing aperistaltic contractions, increased intraesophageal pressure, and failure of relaxation of the lower esophageal sphincter. because of its sensitivity, manometry (esophageal motility study) is considered the key test for establishing the diagnosis. a catheter (thin tube) is inserted through the nose, and the patient is instructed to swallow several times. the probe measures muscle contractions in different parts of the esophagus during the act of swallowing. manometry reveals failure of the les to relax with swallowing and lack of functional peristalsis in the smooth muscle esophagus. characteristic manometric findings are: lower esophageal sphincter (les) fails to relax upon wet swallow (<75% relaxation) pressure of les <26 mm hg is normal, >100 is considered achalasia, > 200 is nutcracker achalasia. aperistalsis in esophageal body relative increase in intra-esophageal pressure as compared with intra-gastric pressure biopsy biopsy, the removal of a tissue sample during endoscopy, is not typically necessary in achalasia but if performed shows hypertrophied musculature and absence of certain nerve cells of the myenteric plexus, a network of nerve fibers that controls esophageal peristalsis. it is not possible to diagnose achalasia by means of biopsy alone. treatment sublingual nifedipine significantly improves outcomes in 75% of people with mild or moderate disease. it was classically considered that surgical myotomy provided greater benefit than either botulinum toxin or dilation in those who fail medical management. however, a recent randomized controlled trial found pneumatic dilation to be non-inferior to laparoscopic heller myotomy. lifestyle changes both before and after treatment, achalasia patients may need to eat slowly, chew very well, drink plenty of water with meals, and avoid eating near bedtime. raising the head off the bed or sleeping with a wedge pillow promotes emptying of the esophagus by gravity. after surgery or pneumatic dilatation, proton pump inhibitors are required to prevent reflux damage by inhibiting gastric acid secretion, and foods that can aggravate reflux, including ketchup, citrus, chocolate, alcohol, and caffeine, may need to be avoided. if untreated or particularly aggressive, irritation and corrosion caused by acids can lead to barrett's esophagus. medication drugs that reduce les pressure are useful. these include calcium channel blockers such as nifedipine and nitrates such as isosorbide dinitrate and nitroglycerin. however, many patients experience unpleasant side effects such as headache and swollen feet, and these medications often stop helping after several months. botulinum toxin (botox) may be injected into the lower esophageal sphincter to paralyze the muscles holding it shut. as in the case of cosmetic botox, the effect is only temporary and lasts about 6 months. botox injections cause scarring in the sphincter which may increase the difficulty of later heller myotomy. this therapy is recommended only for patients who cannot risk surgery, such as elderly people in poor health. pneumatic dilatation has a better long term effectiveness than botox. pneumatic dilatation in balloon (pneumatic) dilation or dilatation, the muscle fibers are stretched and slightly torn by forceful inflation of a balloon placed inside the lower esophageal sphincter. there is always a small risk of a perforation which requires immediate surgical repair. pneumatic dilatation causes some scarring which may increase the difficulty of heller myotomy if the surgery is needed later. gastroesophageal reflux (gerd) occurs after pneumatic dilatation in many undergoing patients. pneumatic dilatation is most effective in the long-term on patients over the age of 40; the benefits tend to be shorter-lived in younger patients due to the body's higher rate of recovery from trauma, often resulting in repeat procedures with larger balloons to achieve maximum effectiveness. after multiple failures using pneumatic dilation, surgeries such as the more consistently successful heller's myotomy can be attempted instead. surgery heller myotomy helps 90% of achalasia patients. it can usually be performed by a keyhole approach or laparoscopically. the myotomy is a lengthwise cut along the esophagus, starting above the les and extending down onto the stomach a little way. the