What is Achalasia?
Achalasia is a rare medical condition where the esophagus (the tube that connects your throat to your stomach) doesn’t work as it should. This happens because the lower part of the esophagus fails to relax. Also, in this condition, the esophagus doesn’t have the usual rhythmic contractions that help move food down to your stomach. In fewer than half of people with achalasia, the lower part of the esophagus becomes unusually tight. All these result in a functional blockage at the point where the esophagus meets the stomach.
What Causes Achalasia?
Achalasia is believed to be a result of damage to the myenteric plexus and vagus nerve fibers that control the lower gate of the esophagus. This damage involves the loss of certain neurons that help regulate the esophagus’ functions, but in severe cases, it could affect other types of neurons as well.
While we’re still not sure exactly why this damage happens, there are a few theories. It could be due to an immune system reaction, a viral infection, or a genetic predisposition. Most cases of achalasia in the United States have no identifiable cause, which is known as primary idiopathic achalasia. However, there is also secondary achalasia, which can be linked to certain diseases or conditions.
For example, secondary achalasia might occur as a result of Chagas disease, which is caused by a parasite called Trypanosoma cruzi. It could also occur in cases of stomach cancer spreading into the esophagus, an inflammation of the esophagus caused by a high number of white blood cells called eosinophilic gastroenteritis, lymphoma, certain viral infections, or degeneration of the nervous system.
Risk Factors and Frequency for Achalasia
Achalasia is not common and affects only about one person in every 100,000 people each year. It doesn’t primarily target a certain age, race, or gender. However, in recent times in the US, the need for hospital treatment for achalasia has been growing, particularly among people under 65 and racial minorities.
For reasons that aren’t understood, people with spinal cord injuries – specifically damage to the neck and upper back – can experience more instances of achalasia. The condition can also appear in people with eating disorders like anorexia nervosa or after certain medical procedures. One such procedure is sclerotherapy for varices, which can lead to symptoms similar to achalasia. In this case, the more times the procedure is performed, the higher the risk of achalasia developing.
Outside of the US, the occurrence of achalasia can vary between 0.1 to 1 per 100,000 people every year. After initial treatment, some patients can experience a relapse if their achalasia was previously treated with a procedure known as pneumatic dilatation. But complications can be more serious in patients who undergo a surgery known as Heller myotomy.
The incidence of Achalasia is evenly distributed between men and women. It typically affects people between the ages of 30 to 60, with less than 5% of cases happening in children under the age of 16.
Signs and Symptoms of Achalasia
Achalasia is a condition that primarily presents with difficulty swallowing, initially with solid foods and eventually liquids too. Most patients will experience difficulty swallowing both solids and liquids when diagnosed. Additional symptoms common to people with achalasia include chest pain, night-time coughing, heartburn and, rapid weight loss due to problems with eating.
As the disease progresses, patients may have symptoms of regurgitation with possible aspiration – unintentionally breathing foreign bodies into the lungs, which could lead to a cough or even pneumonia. Some less common symptoms are hiccups and difficulty belching.
The majority of people experiencing such symptoms generally find that the treatment of the underlying achalasia condition helps to alleviate these problems. In some severe cases, individuals might appear visibly thin or emaciated, and may possibly exhibit a “bullfrog neck” – an unusually swollen and puffed neck owing to the severe dilation and distortion of the esophagus.
There is a grading system called the Eckardt symptom score which doctors use to assess the severity of achalasia. The scale ranges from 0-3 for four common symptoms: weight loss, chest pain, difficulty swallowing, and regurgitation. The combined scores form a total maximum of 12, which helps doctors understand the severity of the patient’s condition.
- A score of 0-1 corresponds to clinical stage 0
- A score of 2-3 corresponds to clinical stage 1
- A score of 4-6 corresponds to clinical stage 2
- A score greater than 6 corresponds to clinical stage 3.
The lower stages (0-1) reflect disease remission, whereas the higher stages (2-3) indicate a failure of treatment.
Testing for Achalasia
If a doctor suspects that a patient may have achalasia, which is a condition affecting the esophagus, they would need to perform specific tests to confirm this. This condition doesn’t always show clear symptoms, so these tests can help rule out other potential problems, like esophageal blockages due to benign or malignant conditions.
The first test usually done is a barium swallow. In this test, the patient drinks a liquid containing barium, which then shows up on an x-ray showing the condition of the esophagus. One notable symptom is the so-called “bird’s beak” look of the lower esophagus. Other signs might be an enlarged esophagus or lack of normal muscle movement in the esophagus. If the disease is advanced, the esophagus might have a sigmoid-like, or S-shape. This test is sometimes timed to see how long it takes for the barium to travel down the esophagus. The test is done again after treatment to measure improvement.
Upper endoscopy is another recommended test for all patients with suspected achalasia. While it isn’t very accurate in diagnosing achalasia, it can detect other issues like pre-cancerous or cancerous lesions in the esophagus. The esophagus might appear normal, or it might look swollen and weak, possibly with trapped food and saliva. If the endoscope meets firm resistance when trying to pass through the lower part of the esophagus, it could suggest pseudoachalasia, which might be linked to cancer. In these cases, other tests like a CT scan or an endoscopic ultrasound might be needed.
The most sensitive and reliable test for diagnosing achalasia is esophageal manometry. This test measures the pressure in the lower esophageal sphincter, the muscle at the bottom of the esophagus. If the sphincter is not relaxing properly when swallowing, or if pressure is too high, it is suggestive of achalasia. Depending on the results, the achalasia can be classified into three types, each having implications for prognosis and treatment.
In addition to these tests, a pH test might be done to rule out acid reflux, and an endoscopic ultrasound might be recommended if a tumor is suspected.
Treatment Options for Achalasia
The primary goal in treating achalasia, a disorder affecting the esophagus, is to relieve symptoms by reducing obstruction caused by a stiff and overactive lower esophageal sphincter (the muscle at the bottom of the esophagus). This can be done through non-surgical or surgical treatments.
Non-surgical treatments include medication, botulinum toxin injections, or inflating a balloon in the esophagus to stretch it. For medication, substances like nitrates, calcium channel blockers, and phosphodiesterase-5 inhibitors are used to diminish the tension in the lower esophageal muscle. However, these treatments only provide short-term relief and may have side effects like low blood pressure, swollen feet, and headaches, making them ideal for patients awaiting more definitive therapy.
Injections of botulinum toxin (a powerful biological neurotoxin) can be used on patients who are not good candidates for surgery or balloon dilation, or on those who didn’t respond well to muscle-cutting surgery. Although this treatment can help, the effect only last from six to twelve months, so multiple treatments may be needed, which can get expensive and possibly reduce the success of any subsequent surgeries.
Pneumatic dilation, or stretching the esophagus with air pressure, has proven to be the most cost-effective non-surgical therapy. This approach improves symptoms in 50%-93% of patients, although about 30% of patients will see their symptoms return after five years. Younger male patients and those with complications like lung problems may have a higher rate of this treatment failing. Though most side effects are mild, severe complications can occur, including a tear in the esophagus.
If non-surgical options aren’t successful or suitable, surgery may be recommended. A common surgical procedure in such cases is the laparoscopic Heller myotomy, where surgeons make small incisions to cut the rigid muscle fibers of the lower esophageal sphincter, which helps it relax. However, these cuts can cause uncontrolled acid reflux, so often it’s combined with an anti-reflux procedure. After surgery, the majority of patients see improvements though some may see the disease progress again after five years.
Another surgical option is peroral endoscopic myotomy, a minimally invasive alternative that also cuts muscle fibers to help relax the lower esophageal sphincter. This procedure does not involve an anti-reflux procedure so the risk for acid reflux is higher. If all else fails, removing part or all of the esophagus may be considered as a last resort.
What else can Achalasia be?
If a patient is having trouble swallowing, a condition called dysphagia, it’s important to consider the possibility that it could be a sign of cancer. However, there are other conditions that can cause this symptom too:
- Muscle spasms in the esophagus
- Scleroderma (a disease that causes hardening and tightening of the skin and connective tissues)
- Acid reflux, also known as gastroesophageal reflux disease (GERD)
- Narrowing of the esophagus (a stricture)
- The presence of a general narrowing in the lower esophagus (Schatzki ring)
- A condition where a part of the stomach pushes up into the chest (hiatal hernia)
- A hernia next to the esophagus (paraesophageal hernia)
What to expect with Achalasia
Pneumatic dilatation and laparoscopic myotomy can effectively relieve the symptoms of certain conditions. Although it’s rare, esophageal perforation can occur after pneumatic dilatation, but cases of relapses are quite common.
Possible Complications When Diagnosed with Achalasia
These are some potential complications and risks that may occur:
- Tearing or perforation of the esophagus
- Recurrence of the original condition
- Development of heartburn and acid reflex, also known as gastroesophageal reflux disease
- Experiencing a fullness or tightness in the stomach, known as bloating
- Possibility of developing cancer
Recovery from Achalasia
People who receive treatment for a condition called achalasia need ongoing care. This is because current treatments only relieve symptoms instead of curing the condition, so it’s not unusual for the problem to come back. Plus, some achalasia treatments might even cause another issue – reflux disease – which often needs its own treatment.
Preventing Achalasia
Despite a lot of research, we still don’t fully understand what causes achalasia, a condition affecting the esophagus. Some think it might be triggered by a viral infection in people who already have a genetic vulnerability, but this hasn’t been proven. Unfortunately, the treatments we have now don’t stop the condition from getting worse. Instead, they focus on easing symptoms like difficulty swallowing, chest pain, and regurgitation, as well as preventing related complications like acid reflux, weight loss, and an enlarged esophagus.
It’s important for patients to know that achalasia is a lifelong condition, so they can have realistic expectations regarding treatment outcomes. Patient education should also include explaining the need for lifestyle changes post-treatment; for example, the need to eat small amounts of food while sitting upright. This helps gravity pull the food down, and it’s advised against laying completely flat. For the sake of reducing aspiration risk, it’s better to recline at angles between 30 to 45 degrees.
