OverviewNormally, a person’s esophagus performs a series of contractions, called peristalsis, to move food from the throat to the stomach. Achalasia is a rare disorder in which the lower esophageal sphincter (LES), a ringed muscle that acts as a valve between the esophagus and stomach, does not relax. Its failure to relax is combined with a failure of peristalsis within the esophagus.
Achalasia is one type of [esophageal motility disorder] . For patients with the condition, food and liquid collect in the esophagus until their mass creates sufficient pressure to push through the sphincter. The condition tends to progressively worsen with time.
Achalasia’s cause is unknown but it is associated with the lack of specific cells, called ganglion, in the nerve network between esophageal layers of muscle layers; these muscles regulate peristalsis. This lack of cells also might result in narrowing of the esophagus near its bottom. Research also has shown that achalasia patients to have inhibited production of nitric oxide, which is a key factor in gastrointestinal smooth muscle relaxation including the LES.
Achalasia also can be a secondary symptom of another condition, such as infection or damage to the nerves, or cancer. Achalasia is rare, with10-20 cases emerging per million persons, data suggests. It is most common in middle-aged and older adults, but can occur at any age.
Achalasia’s main symptom is dysphagia – difficulty or pain with swallowing. If swallowing discomfort is too great, the patient may reduce his food intake, leading to weight loss. Other symptoms include regurgitation of food, aspiration of food into the lungs, chest pain and heartburn.
Physicians treat achalasia primarily by trying to relax the lower sphincter with medication, stretching, and surgery. Medications and botulinum injections are non-invasive approaches that help some patients. More invasive methods include dilating the LES by mechanical means or surgery to reduce the sphincter’s tautness.
Dysphagia – difficulty or pain with eating or drinking – is the most common symptom for people with achalasia. If the condition worsens, the patient may reduce food intake, resulting in weight loss. Other symptoms include regurgitation of food, chest pain (created by a distended esophagus), coughing and heartburn. Some people learn to vomit to relieve the chest pressure or pain. Aspiration of food into the lungs, which can cause pneumonia or lung abscesses, is more likely as the condition worsens.
Achalasia also is associated with a higher risk of esophageal cancer
CausesThis esophagus’ inability to propel food to the stomach coincides with a dysfunctional sphincter muscle where the esophagus meets the stomach. The absence of certain nerve cells from the muscle lining the esophagus causes its lower sphincter to fail to relax, partially or wholly, increasing pressure in the esophagus. The cause of the nerve cells’ absence is unknown.
Risk FactorsAchalasia is a rare, slow-developing disorder, affecting about 3,000 people in the United States, by one study’s estimate. The disorder is equally prevalent among people of different races and sexes. The average age of patients with achalasia is 49, but achalasia reportedly has been diagnosed in infants and people older than 80.
DiagnosisPatients typically have dysphagia that slowly progresses from solid foods to liquids. Dysphagia is usually associated with regurgitation, mild weight loss and chest pain/discomfort associated with eating. Most patients feel as if food is getting stuck in their esophagus. Some adopt maneuvers such as standing and raising their arms above their heads in an effort to use gravity to propel food into the stomach. Due to poor esophageal clearance, regurgitation of undigested food is common after meals and when lying supine. This can lead to recurrent aspiration, pneumonia, and vocal hoarseness.
Although patients complain of heartburn, this is not due to gastric acid secretions, but fermentation of undigested food that is pooled in the esophagus. Therefore, acid-suppressive medications provide little relief.
A barium swallow is commonly used to detect achalasia. The patient swallows a solution while a fluoroscope allows the physician to observe the opaque fluid go through the esophagus. The ensuing images typically reveal an esophagus tapered sharply near its bottom, taking on the appearance of a bird’s beak.
Manometry, which measures the contractive pressure inside the esophagus at points along its length, also is important to establish achalasia. The measuring device is introduced through the patient’s nose or mouth. Established criteria related to the lower esophageal sphincter’s pressure and ability to relax, as well as the esophagus’ peristalsis, can confirm the diagnosis.
Endoscopy is necessary to rule out psuedoachalasia (presence of a distal esophageal tumor) as the cause of the patients symptoms. In comparison to primary achalasia, psuedoachalasia patients typically have shorter duration of symptoms (<6 months), more profound weight loss (>15 lbs), and are older (>55 years). In an endoscopy, a specialist examines the patient’s esophagus and stomach with a thin, flexible tube called an endoscope, which is directed down the patient’s throat. Its end has a light and miniature camera, enabling the physician to view the anatomy up-close on a video monitor. The camera also produces high-resolution images, which the physician can study or use in consultation with another specialist.
ComplicationsComplications of achalasia include malnutrition and weight loss. Aspiration of food into the lungs might also lead to a pulmonary infection or pneumonia. Achalasia also is associated with a higher risk of esophageal cancer.
RecoveryAchalasia patients should eat slowly and try to minimize stress, which can aggravate the condition. Patients describe a range of therapies to combat achalasia’s accompanying chest pain/spasms, including drinking warm or room-temperature water or seltzer water; chewing crackers, bread, ice or hard candy; gulping milk; drinking warm milk; and taking antacid medication.