Achalasia: Answers to Frequently Asked Questions

What is the definition of achalasia?

Lay: Achalasia is a disorder of swallowing resulting from the inability of the muscle of the esophagus (food pipe) to relax, preventing food and liquids to get to the stomach. The muscle affected is called the lower esophageal sphincter: this is a ring of muscle at the junction of the esophagus and stomach, which normally stays shut (to prevent stomach acid from coming back) and opens during swallowing to allow food down. In patients with achalasia, this ring stays shut. In addition, the rest of the esophagus loses its ability to pump material down (a process called peristalsis). This combination of defects results in great difficulty in swallowing.

Scientific: Achalasia is a disorder of the esophagus characterized by failure of the lower esophageal sphincter (LES) to relax and aperistalsis of the esophageal body.

Are there different types of achalasia?

Achalasia can very rarely occur from other disease states (such as cancer), when it is known as secondary achalasia or pseudoachalasia. However, by far the commonest type is primary achalasia which implies that the disease originates in the esophagus itself. This is the type that is commonly implied when the term achalasia is used without qualification. Another common adjective used for this kind of achalasia is "idiopathic" which means that we do not know what causes this disorder. Finally, primary achalasia can also be classified as "classic" (in which there is virtually no contraction seen in the body of the esophagus) or "vigorous" (in which there is activity in the body of the esophagus but this is largely ineffective "spasm" rather than true coordinated pump-like activity or peristalsis).

What percentage of the population has it?

Achalasia is a relatively uncommon disorder of esophageal motility with a prevalence estimated at about 10 in 10,000 and an incidence rate in the range of 0.5 new cases per year per 100,000 population.

What is the age distribution?

Although achalasia has also been described in very young children and the very old, it is uncommon before the age of 25, with a clear-cut age-related increase thereafter. Most commonly the disease occurs in middle adult life (30-60 years of age) and affects both sexes and all races nearly equally.

What causes it?

Theoretically, achalasia could result from a problem in the swallowing center in the brain, the (vagus) nerves that carry impulses from that center to the esophagus or within the nerve cells residing in the esophagus itself. There is good evidence to suggest that the major problem lies in the nerve cells of the esophagus. These nerves are of two broad types: those that cause the sphincter (or other muscle) to relax or open up and those that cause it contract or tighten up. Normally, the sphincter muscle is in a state of balance between these two opposing sets of nerves. In achalasia, most of the nerves responsible for relaxation are lost, resulting in a shift in the balance towards contraction- hence, the failure of the LES to relax or open up with swallowing.


 

What are the symptoms of achalasia?

The major symptoms of achalasia are difficulty in swallowing (dysphagia) and bringing back material from the esophagus (regurgitation). The difficulty in swallowing usually involves both liquids and solids from the onset and is often felt as an obstruction to passage of material in the lower chest. Regurgitation of food can occur spontaneously but particularly when the patient is lying down or bends over. It can occasionally be associated with spells of coughing or even pneumonia if the regurgitated material goes down the airways. The third common symptom is chest pain: this can be associated with swallowing but often occurs spontaneously. The chest pain can be severe or mild. Finally, some patients will also complain of "heartburn", although this is relatively rare.

It is not surprising that patients will lose weight and run the risk of becoming significantly malnourished.

How is it diagnosed?

Although achalasia can be suspected on the basis of clinical history alone, patients usually undergo a series of tests to confirm the diagnosis. These are as follows:

A barium study of the esophagus: this consists of having the patient swallow barium paste or liquid and then having a series of X-rays taken of the esophagus. Variations of this test include cine-esophagograms or video-esophagograms in which the X-rays events are recorded continuously on film or video.
Upper Endoscopy (EGD): this test consists of having a "seeing" instrument called an endoscope inserted through the mouth and into the esophagus and stomach. This test is an outpatient procedure but is usually done under mild sedation. It is necessary to make sure there is no other cause of your symptoms.
Esophageal manometry. This test consists of insertion of a special tube through the nose down into the esophagus for recording pressures. This test allows physicians to directly test the function of the LES and the body of the esophagus. It usually takes about an hour to do.
Other tests such as radionuclide swallowing tests are sometimes ordered and give doctors some idea about the severity of the problem. They may also be useful in following the response to treatment.
Can I die from achalasia by choking to death?

Theoretically patients can have pieces of food and liquids go down the airways, resulting in severe difficulty in breathing. However, the chances of this causing death are very unlikely. Most often when this occurs, patients will complain of coughing at night or develop pneumonia. This does not happen very often these days because of earlier medical attention.

What are the long term effects of living with Achalasia?

The long term effects of untreated achalasia are poor nutrition with its consequences and a small risk of developing cancer of the esophagus.

Will achalasia reverse itself and disappear after a period of time?

Achalasia does not reverse itself spontaneously.

Tips and tricks of dealing with achalasia.

warm water or liquids helps some patients
sodas help some and make things worse for others
raising arms over the shoulder while eating has been reported to help some patients
What are the types of treatment and the pros and cons of each?

Achalasia is not a curable disease yet. However, there are a variety of treatments available that can effectively relieve symptoms and help patients resume a relatively normal lifestyle. The most important cause of symptoms in achalasia appears to be the lower esophageal sphincter- this is a ring of muscle at the junction of the esophagus and the stomach that normally opens with swallowing to allow material to pass into the stomach. In achalasia, this muscle stays shut and therefore causes food to get held up and eventually start backing up into the throat.

All present therapies for achalasia seek to lower the pressure in this ring of muscle, thereby overcoming the resistance to the passage of food (see figure). This can be done by one of the following means:

1. Traditional drugs: these act directly on the muscle, causing it to relax. Examples include nitroglycerin (also used for heart problems) and nifedipine.

2. Balloon (also known as pneumatic) dilation. This involves the insertion of a large balloon into the esophagus at the time of endoscopy. The balloon is positioned across the LES and then inflated quickly with the aim of causing a controlled tear of the muscle. This is usually an outpatient procedure.

3. Surgery (myotomy). This involves exposing the LES surgically and then cutting the muscle directly. In the past, this involved a major operation but nowadays is increasingly being done via "key-hole" surgery (laparascopic or videoscopic myotomy) with much reduced discomfort and length of stay.

4. Botulinum toxin injection. This is also an endoscopic procedure and requires the injection of this drug (botulinum toxin) into the LES. The toxin causes the muscle to be partially paralyzed.




Questions And Answers About Treatment
No treatment method has clear cut superiority over others in all aspects.
The long-term results (beyond 10 years) are hard to predict with any means of treatment.


Questions Patients Should Ask The Physician

What is the short term effectiveness of treatments?

 

	Overall	> 40-50 years of age	< 40-50 years of age
Dilatation	70%	70-80%	30-40%
BoTx	70%	80%	40%
Surgery	80-90%	80-90%	80-90%

What immediate adverse effects can I expect?

Dilation- Perforation (risk: up to 1 in 20)
BoTx - Insignificant
Surgery (videoscopic << open) - General anesthesia, pain, hospitalization
What will it take to get me through the next five years?

Dilation -- Probably 2 dilations
BoTx -- About 4-5 endoscopies with injections
Surgery -- No further intervention in 90%, May need long-term acid suppression
What about after the first 5 years?

Dilation - Not well studied but 50% or a little more should be doing well up to 10 years
BoTx - Not known, Resistance may develop
Surgery - About 2/3 continue to do well 10 years and beyond

Questions The Physician Should Ask You

Do you want the single most permanent method of palliation and are willing to be hospitalized for a few days with moderate discomfort?

If the answer is YES, you should consider Videoscopic surgery. However, you should be prepared to be monitored and treated for acid reflux for the long term
Do you want the next most permanent method of palliation and are willing to take the small risk of perforation ?

If the answer is YES, you should consider balloon dilation. However, there is a 50-50 chance that you will undergo this procedure again in the next five years
Do you want the most innocuous procedure that provides effective relief but are willing to undergo a 15 minute endoscopic procedure every year, with the understanding that the long-term consequences are not fully known?

If the answer is yes, you should consider BoTx.


Note: The information on this page should not substitute the need for a full evaluation/discussion with your physician. A gastroenterologist is recommended.
Also, Botox is not yet approved by the FDA.