Achalasia is a motility disorder of the esophagus, which may result in a number of gastrointestinal complications. Know all about this condition, including its causes, symptoms, diagnosis and treatment options.
This is a rare disorder of the esophageal muscle causing difficulty swallowing and regurgitation of food. The term “achalasia” refers to the failure of the muscles to relax. The esophagus, also called food pipe, is a long tube that connects the pharynx with the stomach and produces mucus to facilitate swallowing.
It is medically known by various other names like:
Picture 1 – Achalasia
- Achalasia cardia
- Cardiac achalasia
- Esophageal aperistalsis
- Esophageal achalasia
- Cricopharyngeal achalasia
The prevalence rate of the condition is about 1 to 2 per 200,000 persons with equal gender distribution. It is commonly observed between the age of 20 and 40. However, young children could be equally susceptible to this disorder.
As mentioned earlier, the disorder is mainly characterized by problems in swallowing or dysphagia and reflux of undigested food as well as fluids. When dysphagia occurs, affected individuals get a feeling of food sticking in the lower neck or chest. The condition is generally observed during meal. The retrograde motion of the food can lead to sleep interruption and choking due to entry of the food into the throat. In addition to these signs, affected individuals might display the following symptoms:
- Drastic weight loss
- Extreme discomfort in the chest
- Frequent episodes of sharp non-cardiac chest pain
- Bouts of acidity
- Occasional pain in the back, neck and arms
- Coughing while lying down
- Pulmonary aspiration, resulting in entry of gastric contents or food particles into the lungs
- Secondary lung infections
There are three functional components of esophagus that usually work in coordination to enable proper digestion of food.
The uppermost section comprises of the esophageal sphincter, a ring of muscle forming the upper end of the esophagus and separates it from the throat. The sphincter prevents the backflow of food from the esophagus, and relaxes with swallowing in order to permit the ingested food along with saliva into the mid-esophageal section.
The middle segment of the esophagus is longer in length and propels the saliva-laden food towards the stomach.
The lower section of the esophagus is also present with a sphincter, which normally remains closed to impede the undigested food and gastric acids in the stomach from flowing back into the esophagus. Waves of muscular contractions through the esophageal body, known as peristaltic movements, reach the lowermost sphincter for letting food into the stomach. In esophageal achalasia, however, the smooth muscles lining the lower esophagus exhibit impaired peristalsis and impact the function of the sphincter. Therefore, the lower-most muscle of the esophagus fails to relax and remains closed causing regurgitation of food.
Another cause of acid reflux is an increased tone in the lower esophageal sphincter, abbreviated as LES, which leads to narrowing or tightening of the lower region of the esophagus. In fact, an affected individual can be subjected to elevated resting pressure in the lower sphincter even when there is no swallowing. High lower sphincter resting pressure is observed in nearly half of the patients. In certain instances, there could be high peristaltic waves in the lower esophagus as a swallowing reflex. However, these rapid muscular movements may not be able to exert sufficient force to push the food into the stomach. Individuals suffering from such a condition are known to have vigorous achalasia. The food- sticking sensation is, therefore, directly attributed to anomalies in the esophageal muscles and sphincter at the lower end of the esophagus.
So far, the causative factors of a malfunction along the esophagus remain unidentified. While some medical experts believe that an underlying infection can impair the activity of the esophagus, others assume the role of a genetic factor in the development of this condition. Deterioration of the esophageal muscle as a serious repercussion of an autoimmune disease cannot be ruled out. The activity of the esophagus is regulated by various muscles and nerves. Proper coordination of the nerves is essential for the sphincter to relax and eventually open and elicit peristaltic waves in the esophagus. Degeneration of the nerves prior to the inflammation of the esophageal muscles can disrupt the function of the lower esophageal sphincter. The later stage of the disease witnesses a gradual degeneration of the muscles. An appropriate balance of excitatory transmitters like acetylcholine and substance P, and inhibitory transmitters such as nitric oxide and vasoactive intestinal peptide can maintain the LES pressure. A shortage of nonadrenergic, noncholinergic, inhibitory ganglion cells is known to disturb the balance of the neurotransmitters. This causes unnecessary stretching of the esophagus, rendering it nearly inactive.
The medical history of patients can provide a lot of diagnostic information based on which the condition is suspected. Constant reflux of food, together with chest pain and nocturnal cough, suggests the possibility of esophageal aperistalsis. For better evaluation and correct diagnosis, the following medical tests must be performed:
Visualization of the anatomical structure of the esophagus can be done by using a chest X-ray. The test reveals a dilated esophagus behind the sternum with a narrow end similar to a bird’s beak. Examiners may spot a few gastric bubbles although most are minute or hardly visible.
In this procedure, patients are made to swallow a barium solution while being exposed to a fluoroscope. Doctors observe that the esophagus not only appears abnormally enlarged but even fails to exhibit normal peristaltic movements. This is evident when the contrast agent passes slowly into the stomach, owing to a sphincter dysfunction. Clearly, there is a tapered narrowing at the lower esophageal section. Air bubbles are also visible above the contrast material.
It is perhaps the best method for evaluating the esophagus in case of persistent regurgitation of stomach acids. The main goal of this clinical procedure is to measure the pressure generated by the contracting esophageal muscles. Here, a flexible plastic tube is passed through the nostrils, down the back of the throat and finally into the esophagus as the patient swallows. Affected patients absolutely show no muscular contractions in the lower half of the esophagus, indicating the inefficiency of the lower sphincter to relax. The LES pressure remains elevated even on swallowing and do not undergo any significant reduction.
The endoscopic procedure covers the entire upper region of the gastrointestinal tract, including the duodenum. A flexible tube fixed with a light and camera at the end can be guided through the esophagus into the stomach for inspecting the internal conditions. The most remarkable finding of the technique is a sudden obstruction of the tube in the lower esophagus. As the examination proceeds, the dilated state of the esophagus is revealed.
It is often carried out along with endoscopy to study the small sample of esophageal tissue. An abnormal increase in the muscle tone and absence of the myenteric plexus explains the cause of dysphagia.
Esophageal pH monitoring
The technique enables physicians to measure the reflux of acid from the stomach into the esophagus. To perform this, a thin plastic catheter is inserted into the esophagus as the patient swallows. The presence of acid in this region of the gastrointestinal tract can be detected with a sensor fixed at the tip of the catheter.
Achalasia Differential Diagnosis
The condition must be differentiated from the following disorders, which gives rise to similar symptoms:
- Esophageal stricture
- Stomach cancer
- Gastroesophageal reflux disease
- Plummer-Vinson syndrome
- Chagas’ disease
A varied range of treatment options are available for decreasing the pressure within the lower esophageal ring and permit proper passage of food into the stomach. These include:
Certain nitrates such as isosorbide dinitrate and nitroglycerin aid in relaxing the lower esophageal sphincter are found to be useful. Besides this group of drugs, calcium channel blockers such as nifedipine and verapamil reduce the high pressure in the lower-most muscle of the esophagus. Not many patients receive proper benefits from oral drugs and may get only temporary symptomatic relief. Most of them are prone to side effects like headache and inflamed feet.
This is a useful endoscopic procedure that typically enlarges the lumen of the esophagus and corrects its motility. Here, a patient is made to swallow a tube with a balloon at the end. Specialists carefully place the balloon across the lower sphincter and quickly inflate it. Forceful dilation of the balloon stretches and tears the sphincter. The LES pressure is then released and results in widening of the esophagus. A series of dilations is a must in severe cases. However, it carries health risks like muscle rupture and scarring that can be surgically repaired. The method gives long-term benefits to patients above the age of 40. Use of larger balloons may produce better results in younger patients.
Botox injections are usually given to geriatric patients due to their poor state of health. The non-operative method weakens the lower sphincter and reduces the pressure. The method consumes less time but its effect lasts for a short phase. Many healthcare givers advise administration of botulinum toxin to patients already suffering from pulmonary or cardiac disorders. Such patients develop an increase in appetite and gain weight.
A better cure for a dilated esophagus is Heller myotomy, a surgical procedure usually performed laproscopically through the chest. In some cases, abdominal incision would be required. The method involves excision of the muscles of the lower esophageal sphincter, which minimizes the pressure, and allows proper passage of food and liquids. Here, only the outer muscle of the esophagus, causing the problem, is removed. Gastroesophageal reflux disease is a common side effect of myotomy. Such ramifications can be prevented if fundoplication is used as an adjunct therapy. The latter procedure entails wrapping and suturing of the fundus of the stomach around the lower end of the esophagus. The pressure in the lower esophageal sphincter shifts to the upper region of the esophagus, forcing it to close and thereby prevent acid reflux.
The use of acupuncture therapy can calm the esophageal muscles and treat acid reflux when conventional treatment options yield poor results.
Achalasia patients need to modify their lifestyle even after undergoing treatment. Eating slowly cuts down on the frequency of acid reflux. Before swallowing, the food must be chewed properly for greater secretion of saliva, which naturally neutralizes the stomach acids and helps prevent heartburn. Adequate consumption of water and avoiding late-night eating are the additional measures for preventing acid regurgitation. The head of the bed can be raised to 30 degrees as most episodes of acid reflux occur during sleep. Proton pump inhibitors that function as potent acid reducers are given to patients on a life-long basis. Use of citrus-rich foods, chocolate, ketchup, caffeine and alcohol must be strictly avoided as these are the contributory factors to acid backflow.
The success rate of balloon dilation usually varies between 60% and 95%. Approximately 80% to 90% of patients show good recovery post Heller myotomy. As chances of developing dysphagia again are high, a long-term follow-up may prevent its recurrence.
Some esophageal irritants can cause esophagitis, an inflammatory condition of the esophagus. Constant bouts of acid reflux can lead to ulcers. However, the most dreaded complication of this disorder is esophageal cancer.
Achalasia Forums and Support groups
Achalasia.net and patient.co.uk are some of the online forums where affected patients and their family members can discuss their problems with various health experts who can provide them with solutions and additional information.
Individuals with an impaired esophagus along with their family members can take help from the following organization:
Picture 2 – Achalasia Image
MyHealthShare International Support Network and Community Center
The alarming complications of Achalasia may increase its severity. Difficulty in swallowing as well as refractory acid reflux should not be ignored and must be immediately checked by an experienced health professional. Timely treatment can prevent the disease from worsening.