Idiopathic achalasia

Other Names: Esophageal achalasia; Primary achalasia; Achalasia cardia; Idiopathic achalasia of esophagus; Achalasia

Achalasia is a disorder of the esophagus, the tube that carries food from the mouth to the stomach. It is characterized by enlargement of the esophagus, impaired ability of the esophagus to push food down toward the stomach (peristalsis), and failure of the ring-shaped muscle at the bottom of the esophagus (the lower esophageal sphincter) to relax.

Achalasia is typically diagnosed in individuals between 25 and 60 years of age.

Familial studies have shown evidence of a potential genetic influence. When a genetic influence is suspected, achalasia is called familial esophageal achalasia.

Cause

The lower esophageal sphincter, the ring-shaped muscle at the bottom of the esophagus, normally relaxes during swallowing. In people with achalasia, this muscle ring does not relax as well. The reason for this problem is damage to the nerves of the esophagus. In some people, this problem appears to be inherited. There is additionally a suspected autoimmune component involved in the development of achalasia as individuals with achalasia are more likely to have a concomitant autoimmune disease than the general population.

Inheritance

Some familial cases have been reported, but the rarity of familial occurrence does not support the hypothesis that genetic inheritance is a significant etiologic factor.

Signs and symptoms

Most people with achalasia experience difficulty swallowing, also known as dysphagia and heartburn. Other symptoms might include: regurgitation or vomiting, noncardiac chest pain, odynophagia (painful swallowing), and pain in the upper central region of the abdomen. Non esophageal symptoms might include: coughing or asthma, chronic aspiration (breathing a foreign object such as food into the airway), hoarseness or sore throat, and unintentional weight loss.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Dysphagia(Poor swallowing)

30%-79% of people have these symptoms

• Bronchitis
• Chest pain
• Cough(Coughing)
• Gastroesophageal reflux(Acid reflux)
• Weight loss

5%-29% of people have these symptoms

• Decreased prealbumin level
• Malnutrition
• Recurrent aspiration pneumonia
• Wheezing

Diagnosis

Achalasia is suspected in individuals with dysphagia (difficulty swallowing) and in instances where regurgitation symptoms are not responsive to protein pump inhibitor medication.

The diagnosis of achalasia is confirmed by manometry (test that measures how well the esophagus is working); however, other tests such as upper endoscopy and upper GI X-ray can additionally be useful.

Treatment

The aim of treatment is to reduce the pressure at the lower esophageal sphincter. Therapy may involve:

• Injection with botulinum toxin (Botox) to help relax the sphincter muscles (used as a temporary fix)
• Medications, such as long-acting nitrates (i.e. isosorbide dinitrate) or calcium channel blockers (i.e. nifedipine), to relax the lower esophagus sphincter
• Surgery (Heller myotomy) to decrease the pressure in the lower sphincter
• Pneumatic balloon dilation of the esophagus at the location of the narrowing (done during esophagogastroduodenoscopy)

Prognosis

Although there is no cure for achalasia, treatment options are estimated to be effective in 90% of cases. Without treatment, individuals with achalasia develop progressive dilation of the esophagus. This then leads to late or end-stage achalasia, characterized by esophageal tortuosity (twisting and turning), angulation, and severe dilation.

Approximately 10-15% of individuals who have undergone treatment will progress to late or end-stage achalasia. Treatment for late or end-stage achalasia is typically esophagectomy (surgery to remove all or part of the esophagus).

• Idiopathic achalasia at Curlie

• U.S. Society for Surgery of the Alimentary Tract - Achalasia treatment guidelines

NIH genetic and rare disease info

• NIH info on Idiopathic achalasia

Idiopathic achalasia is a rare disease.

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