Achalasia: Causes, Symptoms, Treatment and Diagnosis

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About Achalasia

Achalasia is a failure of smooth muscle fibers to relax, which can cause a sphincter to remain closed and fail to open when needed. Without a modifier, “achalasia” usually refers to achalasia of the esophagus, which is also called esophageal achalasia, achalasia cardiae, cardiospasm, and esophageal aperistalsis. Achalasia can happen at various points along the gastrointestinal tract; achalasia of the rectum, for instance, may occur in Hirschsprung’s disease.

The esophagus is the tube that carries food from the throat to the stomach. Achalasia is a serious condition that affects your esophagus. The lower esophageal sphincter (LES) is a muscular ring that closes off the esophagus from the stomach. If you have achalasia, your LES fails to open up during swallowing, which it’s supposed to do. This leads to a backup of food within your esophagus. This condition can be related to damaged nerves in your esophagus. It can also be due to damage of the LES.

Achalasia is a primary esophageal motility disorder characterized by the absence of esophageal peristalsis and impaired relaxation of the lower esophageal sphincter (LES) in response to swallowing. The LES is hypertensive in about 50% of patients. These abnormalities cause a functional obstruction at the gastroesophageal junction (GEJ).

Achalasia is a rare disorder that makes it difficult for food and liquid to pass into your stomach. Achalasia occurs when nerves in the tube connecting your mouth and stomach (esophagus) become damaged. As a result, the esophagus loses the ability to squeeze food down, and the muscular valve between the esophagus and stomach (lower esophageal sphincter) doesn’t fully relax — making it difficult for food to pass into your stomach.

There’s no cure for achalasia. But symptoms can usually be managed with minimally invasive therapy or surgery.

In achalasia, the muscles in the oesophagus don’t contract correctly and the ring of muscle can fail to open properly, or doesn’t open at all. Food and drink cannot pass into the stomach and becomes stuck. It is often brought back up.

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).

Achalasia facts

Achalasia is a rare disease of the muscle of the lower esophageal body and the lower esophageal sphincter that prevents relaxation of the sphincter and an absence of contractions, or peristalsis, of the esophagus.

The cause of achalasia is unknown; however, there is degeneration of the esophageal muscles and, more importantly, the nerves that control the muscles.

Common symptoms of achalasia include

  • difficulty in swallowing (dysphagia),
  • chest pain, and
  • regurgitation of food and liquids.
  • Complications of achalasia include lung problems and weight loss.
  • Achalasia may increase the risk of cancer of the esophagus, but this not well established.
  • Achalasia can be diagnosed by X-ray, endoscopy, or esophageal manometry.
  • Treatments for achalasia include
  • oral medications,
  • dilation or stretching of the esophagus,
  • surgery, and
  • injection of muscle-relaxing medicines (botulinum toxin) directly into the esophagus.

There is no specific diet to treat achalasia. However, some patients learn what foods seem to pass through the esophagus more easily, and make dietary alterations to include those foods in their diet, for example:

  • drinking liquid foods
  • drinking more water with meals, and
  • drinking carbonated beverages (the carbonation seems to help “push” the food through the esophageal sphincter).

If a person with achalasia has weight loss that is substantial; their diet may be supplemented by a liquid diet that is complete (contains all necessary nutrients to prevent malnutrition).

What causes achalasia?

Achalasia can happen for different reasons. It can be difficult for your doctor to find a specific cause. This condition may be hereditary, or it may be the result of an autoimmune condition. With this type of condition, your body’s immune system mistakenly attacks healthy cells in your body. The degeneration of nerves in your esophagus often contributes to the advanced symptoms of achalasia.

Other conditions can cause symptoms similar to achalasia. Cancer of the esophagus is one of these conditions. Another cause is a rare parasitic infection called Chagas’ disease. This disease occurs mostly in South America.

Treatment

Treatments for achalasia include oral medications, stretching of the lower esophageal sphincter (dilation), surgery to cut the sphincter (esophagomyotomy), and the injection of botulinum toxin (Botox) into the sphincter. All four treatments reduce the pressure within the lower esophageal sphincter to allow easier passage of food from the esophagus into the stomach.

Diet, oral medications, and botulinum toxin (Botox) to treat achalasia

What about achalasia and diet?

There is no specific diet for treating achalasia, though dietary alterations often are made by patients as they learn what foods seem to pass more easily. Usually, the more liquid foods pass more easily, and patients sometimes drink more water with their meals. Early in the progression of the disease they may find that carbonated liquids help food pass, probably because of the increased intra-esophageal pressure caused by the carbonation that “pushes” food through the sphincter. If loss of weight is substantial it is reasonable to supplement food with a liquid diet supplement that is complete, i.e., contains all necessary nutrients, to prevent malnutrition.

Oral medications

Oral medications that help to relax the lower esophageal sphincter include groups of drugs called nitrates, for example, isosorbide dinitrate (Isordil) and calcium channel blockers (CCBs), for example, nifedipine (Procardia) and verapamil (Calan). Although some patients with achalasia, particularly early in the disease, have improvement of symptoms with medications, most do not. By themselves, oral medications are likely to provide only short-term and not long-term relief of the symptoms of achalasia, and many patients experience side-effects from the medications.

Botulinum toxin

Another treatment for achalasia is the endoscopic injection of botulinum toxin into the lower sphincter to weaken it. Injection is quick, nonsurgical, and requires no hospitalization. Treatment with botulinum toxin is safe, but the effects on the sphincter often last only for months, and additional injections with botulinum toxin may be necessary. Injection is a good option for patients who are very elderly or are at high risk for surgery, for example, patients with severe heart or lung disease. It also allows patients who have lost substantial weight to eat and improve their nutritional status prior to “permanent” treatment with surgery. This may reduce post-surgical complications.

Dilation and esophagomyotomy to treat achalasia

The lower esophageal sphincter also may be treated directly by forceful dilation. Dilation of the lower esophageal sphincter is done by having the patient swallow a tube with a balloon at the end. The balloon is placed across the lower sphincter with the help of X-rays, and the balloon is blown up suddenly. The goal is to stretch–actually to tear–the sphincter. The success of forceful dilation has been reported to be between 60% and 95%. Patients in whom dilation is not successful can undergo further dilations, but the rate of success decreases with each additional dilation. If dilation is not successful, the sphincter may still be treated surgically. The main complication of forceful dilation is rupture of the esophagus, which occurs 5% of the time. Half of the ruptures heal without surgery, though patients with rupture who do not require surgery should be followed closely and treated with antibiotics. The other half of ruptures require surgery. (Although surgery carries additional risk for the patient, surgery can repair the rupture as well as permanently treat the achalasia with esophagomyotomy.) Death following forceful dilation is rare. Dilation is a quick and inexpensive procedure compared with surgery, and requires only a short hospital stay.

Esophagomyotomy

The sphincter also can be cut surgically, a procedure called esophagomyotomy. The surgery can be done using an abdominal incision or laparoscopically through small punctures in the abdomen. In general, the laparoscopic approach is used with uncomplicated achalasia. Alternatively, the surgery can be done with a large incision or laparoscopically through the chest. Esophagomyotomy is more successful than forceful dilation, probably because the pressure in the lower sphincter is reduced to a greater extent and more reliably; 80%-90% of patients have good results. With prolonged follow-up, however, some patients develop recurrent dysphagia. Thus, esophagomyotomy does not guarantee a permanent cure. The most important side effect from the more reliable and greater reduction in pressure with esophagomyotomy is reflux of acid (gastroesophageal reflux disease or GERD). In order to prevent this, the esophagomyotomy can be modified so that it doesn’t completely cut the sphincter or the esophagomyotomy may be combined with anti-reflux surgery (fundoplication). Whichever surgical procedure is done, some physicians recommend life-long treatment with oral medications for acid reflux. Others recommend 24 hour esophageal acid testing with lifelong medication only if acid reflux is found.

Dilation and esophagomyotomy to treat achalasia

The lower esophageal sphincter also may be treated directly by forceful dilation. Dilation of the lower esophageal sphincter is done by having the patient swallow a tube with a balloon at the end. The balloon is placed across the lower sphincter with the help of X-rays, and the balloon is blown up suddenly. The goal is to stretch–actually to tear–the sphincter. The success of forceful dilation has been reported to be between 60% and 95%. Patients in whom dilation is not successful can undergo further dilations, but the rate of success decreases with each additional dilation. If dilation is not successful, the sphincter may still be treated surgically. The main complication of forceful dilation is rupture of the esophagus, which occurs 5% of the time. Half of the ruptures heal without surgery, though patients with rupture who do not require surgery should be followed closely and treated with antibiotics. The other half of ruptures require surgery. (Although surgery carries additional risk for the patient, surgery can repair the rupture as well as permanently treat the achalasia with esophagomyotomy.) Death following forceful dilation is rare. Dilation is a quick and inexpensive procedure compared with surgery, and requires only a short hospital stay.

Esophagomyotomy

The sphincter also can be cut surgically, a procedure called esophagomyotomy. The surgery can be done using an abdominal incision or laparoscopically through small punctures in the abdomen. In general, the laparoscopic approach is used with uncomplicated achalasia. Alternatively, the surgery can be done with a large incision or laparoscopically through the chest. Esophagomyotomy is more successful than forceful dilation, probably because the pressure in the lower sphincter is reduced to a greater extent and more reliably; 80%-90% of patients have good results. With prolonged follow-up, however, some patients develop recurrent dysphagia. Thus, esophagomyotomy does not guarantee a permanent cure. The most important side effect from the more reliable and greater reduction in pressure with esophagomyotomy is reflux of acid (gastroesophageal reflux disease or GERD). In order to prevent this, the esophagomyotomy can be modified so that it doesn’t completely cut the sphincter or the esophagomyotomy may be combined with anti-reflux surgery (fundoplication). Whichever surgical procedure is done, some physicians recommend life-long treatment with oral medications for acid reflux. Others recommend 24 hour esophageal acid testing with lifelong medication only if acid reflux is found.

Signs and symptoms

Symptoms of achalasia include the following:

  • Dysphagia (most common)
  • Regurgitation
  • Chest pain
  • Heartburn
  • Weight loss

Diagnosis

Laboratory studies are noncontributory. Studies that may be helpful include the following:

Esophageal manometry (the criterion standard): Incomplete LES relaxation in response to swallowing, high resting LES pressure, absent esophageal peristalsis

Prolonged esophageal pH monitoring to rule out gastroesophageal reflux disease and determine if abnormal reflux is being caused by treatment

Esophagogastroduodenoscopy to rule out cancer of the GEJ or fundus

Concomitant endoscopic ultrasonography if a tumor is suspected

Management

The goal of therapy for achalasia is to relieve symptoms by eliminating the outflow resistance caused by the hypertensive and nonrelaxing LES.

Pharmacologic and other nonsurgical treatments include the following:

Administration of calcium channel blockers and nitrates decrease LES pressure (primarily in elderly patients who cannot undergo pneumatic dilatation or surgery) Endoscopic intrasphincteric injection of botulinum toxin to block acetylcholine release at the level of the LES (mainly in elderly patients who are poor candidates for dilatation or surgery)

Surgical treatment includes the following:

Laparoscopic Heller myotomy, preferably with anterior (Dor; more common) or posterior (Toupet) partial fundoplication

Peroral endoscopic myotomy (POEM)

Patients in whom surgery fails may be treated with an endoscopic dilatation first. If this fails, a second operation can be attempted once the cause of failure has been identified with imaging studies. Esophagectomy is the last resort.

What are the symptoms of achalasia?

People with achalasia will often have trouble swallowing or feel like food is stuck in their esophagus. This is also known as dysphagia. This symptom can cause coughing and raise the risk of aspiration, or inhaling or choking on food. Other symptoms include:

  • pain or discomfort in your chest
  • weight loss
  • heartburn
  • chest pain
  • repeated infections
  • choking and coughing fits
  • drooling of vomit or saliva
  • gradual but significant weight loss
  • intense pain or discomfort after eating
  • You might also have regurgitation or backflow. However, these can be symptoms of other gastrointestinal conditions such as acid reflux.

How is achalasia diagnosed?

Your doctor might suspect you have achalasia if you have trouble swallowing both solids and liquids, particularly if it gets worse over time.

Your doctor may use esophageal manometry to diagnose achalasia. This involves placing a tube in your esophagus while you swallow. The tube records the muscle activity and makes sure your esophagus is functioning properly. An X-ray or similar exam of your esophagus may also be helpful in diagnosing this condition. Other doctors prefer to perform an endoscopy. In this procedure, your doctor will insert a tube with a small camera on the end into your esophagus to look for problems.

Another diagnostic method is a barium swallow. If you have this test, you’ll swallow barium prepared in liquid form. Your doctor will then track the barium’s movement down your esophagus through X-rays.

How is achalasia treated?

Most achalasia treatments involve your LES. Several types of treatment can either temporarily reduce your symptoms or permanently alter the function of the valve.

As a first-line therapy, your doctors can either dilate the sphincter or alter it. Pneumatic dilation typically involves inserting a balloon into your esophagus and inflating it. This stretches out the sphincter and helps your esophagus function better. However, sometimes dilation tears the sphincter. If this happens, you may need additional surgery to repair it.

Esophagomyotomy is a type of surgery that can help you if you have achalasia. Your doctor will use a large or small incision to access the sphincter and carefully alter it to allow better flow into the stomach. The great majority of esophagomyotomy procedures are successful. However, some people have problems afterward with gastroesophageal reflux disease (GERD). If you have GERD, your stomach acid backs up into your esophagus. This can cause heartburn.

If you are unable to undergo pneumatic or surgical correction of your achalasia, your doctor might use Botox to relax the sphincter. Botox is injected into the sphincter through an endoscope.

If these options aren’t available or don’t work, nitrates or calcium channel blockers can help relax the sphincter so food can pass through it more easily.

The dysphagia in achalasia also is different from the dysphagia of esophageal stricture (narrowing of the esophagus due to scarring) and esophageal cancer. In achalasia, dysphagia usually occurs with both solid and liquid food, whereas in esophageal stricture and cancer, the dysphagia typically occurs only with solid food and not liquids, until very late in the progression of the stricture.

How does the normal esophagus function?

The esophagus has three functional parts. The uppermost part is the upper esophageal sphincter, a specialized ring of muscle that forms the upper end of the tubular esophagus and separates the esophagus from the throat. The upper sphincter remains closed most of the time to prevent food in the main part of the esophagus from backing up into the throat. The main part of the esophagus is referred to as the body of the esophagus, a long, muscular tube approximately 20 cm (8 in) in length. The third functional part of the esophagus is the lower esophageal sphincter, a ring of specialized esophageal muscle at the junction of the esophagus with the stomach. Like the upper sphincter, the lower sphincter remains closed most of the time to prevent food and acid from backing up into the body of the esophagus from the stomach.

The upper sphincter relaxes with swallowing to allow food and saliva to pass from the throat into the esophageal body. The muscle in the upper esophagus just below the upper sphincter then contracts, squeezing food and saliva further down into the esophageal body. The ring-like contraction of the muscle progresses down the body of the esophagus, propelling the food and saliva towards the stomach. (The progression of the muscular contraction through the esophageal body is referred to as a peristaltic wave.). By the time the peristaltic wave reaches the lower sphincter, the sphincter has opened, and the food passes into the stomach.

Medication

Medicine, such as nitrates or nifedipine, can help to relax the muscles in your oesophagus. This makes swallowing easier and less painful for some people, although it doesn’t work for everyone. The effect only lasts for a short time, so medicine may be used to ease symptoms while you wait for a more permanent treatment. They may cause headaches, but this usually improves over time.

Stretching the muscle (balloon dilation)

Under a sedative or general anaesthetic, a balloon is passed into the oesophagus using a long, thin flexible tube (endoscope). The balloon is then inflated to help stretch the ring of muscle that lets food into your stomach.

This improves swallowing for most people, but you may need treatment several times before your symptoms improve.

Balloon dilatation does carry a small risk of tearing the oesophagus (oesophageal rupture) which may require emergency surgery.

What about achalasia and diet?

There is no specific diet for treating achalasia, though dietary alterations often are made by patients as they learn what foods seem to pass more easily. Usually, the more liquid foods pass more easily, and patients sometimes drink more water with their meals. Early in the progression of the disease they may find that carbonated liquids help food pass, probably because of the increased intra-esophageal pressure caused by the carbonation that “pushes” food through the sphincter. If loss of weight is substantial it is reasonable to supplement food with a liquid diet supplement that is complete, i.e., contains all necessary nutrients, to prevent malnutrition.

Oral medications

Oral medications that help to relax the lower esophageal sphincter include groups of drugs called nitrates, for example, isosorbide dinitrate (Isordil) and calcium channel blockers (CCBs), for example, nifedipine (Procardia) and verapamil (Calan). Although some patients with achalasia, particularly early in the disease, have improvement of symptoms with medications, most do not. By themselves, oral medications are likely to provide only short-term and not long-term relief of the symptoms of achalasia, and many patients experience side-effects from the medications.

Esophageal manometry

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

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