Esophageal achalasia

Esophageal achalasia
Other names	Achalasia cardiae, cardiospasm, esophageal aperistalsis, achalasia
A chest X-ray showing achalasia (arrows point to the outline of the massively dilated esophagus)
Pronunciation	/ˌækəˈleɪziə/[1]
Specialty	Gastroenterology, thoracic surgery, general surgery, laparoscopic surgery
Symptoms	Anorexia (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 onset	Normally in mid-to-late life, rarely during youth
Duration	Lifelong
Types	1st 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, sigmoid
Causes	Unknown
Risk factors	Inconclusive, but possibly: history of autoimmune disorders, air-hunger that accompanies anxiety, faulty eating habits, improper diet
Diagnostic method	Esophageal manometry, biopsy, X-ray, barium swallow study, endoscopy
Prevention	No method of prevention
Treatment	Heller myotomy and fundoplomy, POEM, pneumatic dilation, botulinum toxin
Prognosis	~76% chance of survival after 20 years (in a western country such as Germany)[2]
Frequency	~1 in 100,000 people[2]
Deaths	829 in a period of 1–8 years study out of a 28 demographic, 754 million record pool.[3]

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.^[4]

Esophageal achalasia is an esophageal motility disorder involving the smooth muscle layer of the esophagus and the lower esophageal sphincter (LES).^[5] 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.^[6][7][8]

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 or POEM).

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.^[9] Achalasia affects about one person in 100,000 per year.^[9][10] There is no gender predominance for the occurrence of disease.^[11] The term is from a- + -chalasia "no relaxation."

Achalasia can also manifest alongside other diseases as a rare syndrome such as achalasia microcephaly.^[12]