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Achalasia symptoms, causes, treatment – Achalasia

Achalasia is a condition of the esophagus where it becomes tough to swallow. It can impact a person’s life but treatment options available.

In this article, you will find everything you need to know about achalasia, from its symptoms to treatment and a little more. Get to know this disease in the lines below, directly from a doctor. 

What is the esophagus?

In order to reach the stomach, food has to go through a tube called the esophagus. This organ goes from the throat to the stomach. Its walls contain muscle that pushes the food towards the stomach; this movement is called esophageal peristalsis/esophageal contractions.

In its lower limit, the esophagus has stronger muscles, which prevent the return of food from the stomach to the esophagus. This stronger muscle is the lower esophageal sphincter (LES). This sphincter muscle works as a ring that opens and closes the stomach entrance in the lower esophagus. When eating, this sphincter must relax for food to pass to the stomach. 

What is the definition of achalasia?

Achalasia is the disease where the esophagus can’t push the food down, and the lower esophageal sphincter doesn’t open (or relax), resulting in difficult esophageal emptying. Therefore, food does not enter the stomach or enters with much more struggle.

The disease is an esophageal motility disorder, which means that the esophagus’s movements are not normal. The cause of achalasia remains unknown. The main theory involves a problem with the nerves that command the esophagus (the myenteric plexus). However, scientists have not determined what causes the problem with the nerves.

The term achalasia usually refers to esophageal achalasia. Still, other parts of the digestive system can still suffer from “non-relaxation” diseases.

When the cause is unknown, it receives the name of primary or idiopathic achalasia. On the other hand, amyloidosis, sarcoidosis, neurofibromatosis, eosinophilic esophagitis, and some types of cancer can prevent the LES from relaxing. In these cases, they cause a “secondary achalasia.” 

The main theory in primary achalasia suggests that inflammation leads to the destruction of the esophagus’s nerves. Some patients with the condition have antibodies that destroy these nerves.

Antibodies are proteins in the blood that fight off infections. When they attack a part of the body, they cause autoimmune diseases. This means that achalasia could be an autoimmune disease like lupus or rheumatoid arthritis. Other genetic and environmental factors could influence the disease outcome. 

Achalasia affects nearly 1 in 100.000 people around the world every year. Even though it sounds like a little, this number is only the new patients with achalasia. Around 10 out of 100.000 people live with achalasia. Men and women are equally affected. Diagnosis usually occurs after adolescence, in people between 25 and 60 years of age. 

What are the symptoms of achalasia?

The most common symptom is difficulty swallowing. The medical term for this condition is dysphagia. It appears progressively to a point where liquids like water are challenging to swallow.

While almost all patients with achalasia have dysphagia, this condition has other causes too. Doctors usually rule out other causes before diagnosing achalasia.

The second most common symptom is heartburn. This burning sensation in the chest, just behind the breastbone, is also common in gastroesophageal reflux disease. It usually appears or worsens after taking a meal.

Patients can also experience chest pain after eating. Typically this chest pain will come and go, and doctors need to discard an underlying heart disease.

About half of the patients experience vomiting. Since the food doesn’t reach the stomach, the appearance of the vomit is different. It is usually dryer, and food is more complete. A less frequent symptom is stomachache, especially in the upper part of the abdomen. Only around 1 in 10 patients suffer from it.  

The disease starts with mild symptoms and develops with time. Patients usually reduce the size of meals or take a longer time to eat the same portions. This causes an important weight loss in the long term. 

When vomiting occurs, food returns from the esophagus to the mouth. In that path, it passes through the laryngeal opening. The larynx is the part that communicates the throat with the lungs.

Food can go inside the larynx, therefore causing respiratory symptoms. Cough is the most common respiratory symptom, and it appears in almost all patients who have recurrent vomiting. This means that almost half of all patients with achalasia experience cough. When food goes inside the larynx, it is called aspiration. Bacteria from the mouth can go into the respiratory tract and cause different types of infections.

What are the tests to diagnose achalasia?

The usual first test is an endoscopy. In this test, a doctor inserts a tube with a camera on the tip into the mouth. After that, the tube runs down the throat into the esophagus.

After the esophagus, the tube goes into the stomach and finally into the duodenum. The duodenum is the part of the small intestine that comes after the stomach. Besides observing the organs, the doctor can take small samples of the tissue called biopsies. These then go to a lab so a doctor can examine them under a microscope.

Endoscopies help doctors suspect achalasia, but it is not possible to diagnose achalasia with just an endoscopy. This test is important to rule out gastroesophageal reflux disease since this can cause very similar symptoms. Endoscopy also rules out that something like a tumor or esophageal cancer might obstruct the path. 

A barium esophagram (barium swallow) is a test in which the patient takes a barium-containing food. The barium lines the internal walls of the esophagus. When the radiologist takes the X rays, the barium helps define the shape of the esophagus. This allows doctors to determine if achalasia or other conditions are possible.

File:Barium imaging for Achalasia - Flickr - brewbooks.jpg
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A high-resolution manometry is a test that determines if the lower esophageal sphincter relaxes. In an esophageal manometry, a doctor inserts a tube through your nose that will go down to your stomach. During the test, the patient takes small sips of water in order to swallow. The tube can sense the strength with which the esophagus contracts. In achalasia, the LES is contracted and unable to relax properly. 

When diagnosing achalasia, patients may undergo other tests in order to rule out other diseases. This is important to determine the most suitable therapy.  

What do the subtypes of achalasia mean?

High-resolution manometry and esophagram help classify achalasia in three different subtypes. All three types have in common the inability of the lower esophageal sphincter to relax. The feature that differentiates each type is the pressure in the entire esophagus, rather than the LES pressure. Type I achalasia has normal pressure, type II has elevated pressure in the entire organ, and type III has a series of contractions through the esophageal body.  

Esophagogastric junction outflow obstruction is a condition very similar to achalasia. It has impaired relaxation of the LES, with normal contraction of the esophageal body. There can be a point in which the esophagus is losing the nerves, but its function is not fully lost. Thus, the condition can progress towards a specific type of achalasia. 

Doctors need to identify the type of achalasia each patient has. Each subtype of the disease might receive a different course of treatment. Results for each treatment vary according to the type of achalasia. Besides that, every patient has specific characteristics that make the best option unique for every individual. 

What is the treatment for this condition?

Several treatment options exist. The election of one treatment over another depends on multiple factors. Medication is the easiest form of treatment for achalasia. Medicines such as nifedipine or sildenafil can lower the contraction of the LES. Several side effects make treatment with medicines, not the best choice in the long term. However, medicines can be very helpful before more definitive treatment is administered.  

Botulinum toxin injection is a more durable treatment option. Botulinum toxin is a protein that inhibits muscle contraction. An injection in the LES has been demonstrated to relieve dysphagia for at least six months in achalasia patients. Nevertheless, to administer the treatment, the patient must undergo an endoscopy. Some patients show no improvement in their achalasia symptoms after several injections. Finally, several botulinum doses can make more definitive treatments more complicated in the future. It is the main option for patients that are not suitable for other therapies.   

Pneumatic dilation is another viable treatment option. In this procedure, doctors inflate a balloon in order to produce esophageal dilation. Pneumatic dilation shows high success rates in achieving a dilated esophagus with little risk for complications.

The risk for esophageal perforation is lower than 1%. Success rates are higher in females older than 45 years and with a smaller esophageal diameter (more contracted esophagus). This procedure is also more successful in type II achalasia. Symptoms can reappear after 4 to 6 years and may need another dilation. Another name for the procedure is balloon dilation. 

Are there surgical treatments for achalasia? What are the complications?

Surgery is the most definitive treatment for achalasia, but not everyone can have it. Laparoscopic Heller myotomy is the first-choice surgery. In this procedure, a surgeon performs two small cuts in the abdomen through which they operate.

During the surgery, the doctor cuts the lower esophageal sphincter to reduce its pressure. After the surgery, the low LES pressure reduces dysphagia, but acid reflux is a common side effect. To prevent reflux, surgeons usually perform a second procedure called Toupet fundoplication.

Laparoscopic myotomy is superior to the thoracotomy alternative because it involves a smaller opening to operate. Surgical myotomy still remains superior to pneumatic esophageal dilation.  

Peroral endoscopic myotomy (POEM) is the most recent procedure in the treatment of achalasia. This is done through an endoscopy. A tube with a camera in the tip goes through your mouth into the esophagus. With the help of a very small knife, the doctor operating the endoscope cuts the muscle that causes the problem.

The success achieved by the POEM is comparable to that of Heller myotomy. Success is especially higher in type III achalasia patients. Even though very promising, data on POEM long term outcomes are not available yet. 

Like any surgical procedure, they have their own downsides. Surgical myotomy needs an operating room, general anesthesia, and a couple of days of hospital stay. POEM can take place in an endoscopy lab and usually comes with an overnight stay. In comparison, other non-surgical options are outpatient procedures. 

What are the possible complications of achalasia?

Direct complications of untreated achalasia are rare. Complications from surgery are more common. When achalasia patients don’t receive any treatment, the usual problem is malnutrition. This condition happens when the food is eaten less than necessary. Malnutrition manifests as extreme weight loss, general lack of energy, hair loss, anemia, etc.

Anemia is a condition where the blood has too little hemoglobin. This is the protein that transports oxygen from the lungs to the rest of the body. It is necessary for all bodily functions.

Recurrent swallowing disorders can also appear. This situation depends on the type of treatment and requires a personal assessment. 

Besides this, achalasia patients have a higher risk of developing squamous cell carcinoma, a type of esophageal cancer. However, this occurs late after disease onset.

Do you have symptoms of this disease?

This tool is an Achalasia Symptoms Checker. It gathers the most important signs, symptoms, and risk factors of this swallowing disorder. Therefore, it would tell anybody who uses it the likelihood of their symptoms because of Achalasia. Using the tool is free and would only take a few minutes.

What do you think?

Written by Dr. Esteban Kosak

Doctor of Medicine - MD Recently Graduated from Medical School and inspired to aid the global population during this situation. I think that we shall no longer be waiting to see a doctor when we feel sick. Several times we feel disease searches in Google drive us to a rabbit hole and come out thinking that we may die of cancer or something very serious, given that symptoms may seem to fit a wide variety of illnesses. Since I recently graduated from medical school. I have all the medical information fresh in my mind. My thorough experience as an expert researcher allows me to very-well known the different diseases and conditions that affect human bodies. Empowered by the United Nations 17 Sustainable Development Goals (SGDs). I think that we all can provide a grain of sand to help humanity. That's why we created Symptoms.Care a place where you can come and screen your symptoms and find what different illnesses can be related to them. Armed with the right information you can instantly, discretely, secure and from the comfort of your home talk with a Doctor that can Evaluate your Symptoms and help you seek the right treatment.

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