Oesophageal Achalasia

Achalasia, Cardiospasm

Oesophageal achalasia is a rare swallowing disorder where damaged nerves prevent the muscles of the food pipe from working properly, making it difficult to swallow food and drink. Though there is no cure, symptoms can usually be managed with treatment options ranging from medication to surgery.

Table of contents

• What is Oesophageal Achalasia?
• Affected Anatomy
• What Causes Achalasia?
• How Common is Achalasia?
• Symptoms of Achalasia
• Possible Complications
• How is Achalasia Diagnosed?
• Treatment Options
• Living with Achalasia

What is Oesophageal Achalasia?

Oesophageal achalasia is a rare condition that affects the oesophagus, the muscular tube connecting the mouth to the stomach^[1]. The word “achalasia” means “failure to relax”^[17].

In a normally functioning body, muscular contractions called peristalsis squeeze food and liquid down the oesophagus toward the stomach^[2]. At the bottom of the oesophagus sits the lower oesophageal sphincter (LES), a ring-shaped muscle that relaxes to let food enter the stomach and then tightens to keep stomach contents from backing up^[2].

In achalasia, damaged nerves make it hard for the muscles of the oesophagus to squeeze food and liquid toward the stomach^[1]. The peristalsis doesn’t take place or doesn’t work as well as it should, and when it does, the lower oesophageal sphincter doesn’t relax^[2]. As a result, food and drink stay trapped in the oesophagus instead of moving into the stomach. Food then collects in the oesophagus, sometimes fermenting and washing back up into the mouth^[1].

• Oesophagus
• Lower oesophageal sphincter
• Stomach

Affected Anatomy

The condition causes a functional obstruction at the point where the oesophagus meets the stomach, known as the gastroesophageal junction^[3]. The oesophagus loses its ability to move food down effectively, and the lower oesophageal sphincter fails to open properly or doesn’t open at all^[4].

What Causes Achalasia?

Achalasia is thought to occur from the degeneration of nerve cells in the wall of the oesophagus^[3]. When these nerve cells become damaged, they stop controlling the muscle function properly. Specifically, there is a loss of nerve cells that contain certain chemicals that help muscles relax^[3].

The exact cause of this nerve damage is unknown. One theory suggests that achalasia may be an autoimmune disease, where the body’s immune system mistakenly attacks its own nerve cells, possibly triggered by a virus^[2]. Other theories include viral infection and genetic predisposition^[3].

Most cases are primary idiopathic achalasia, meaning they arise without a known cause. However, in rare cases, secondary achalasia can be caused by conditions such as Chagas disease, oesophageal infiltration by gastric cancer, certain viral infections, or other disorders^[3].

How Common is Achalasia?

Achalasia is a fairly rare condition^[1]. It affects approximately 1 in 100,000 people in the United States each year^[2][5]. The condition can develop at any age, but it typically affects adults between the ages of 25 and 60^[2][6]. It does not predominantly affect a particular race or gender^[3], though children may also develop it.

Symptoms of Achalasia

Achalasia symptoms generally appear gradually and get worse over time^[1]. The symptoms develop slowly, and people can have this disorder for months or years before noticing significant changes in their body^[2].

The main symptoms include:

• Difficulty swallowing food or drink, known as dysphagia, which may feel like food or drink is stuck in the throat^[1]
• Swallowed food or saliva flowing back into the throat (regurgitation)^[1]
• Chest pain that comes and goes^[1]
• Heartburn^[1]
• Belching difficulties^[2]
• Hiccups^[2]
• Unexplained weight loss^[1]
• Coughing at night^[1]

Some people mistake achalasia for gastroesophageal reflux disease (GERD). However, in achalasia, the food is coming from the oesophagus, while in GERD, the material comes from the stomach^[1]. Not everyone with achalasia will have symptoms, but most people will find it difficult to swallow^[4].

Possible Complications

If achalasia is left untreated, several serious complications can develop. When food backs up into the oesophagus and into the windpipe, a person may inhale food into their lungs^[2]. This can lead to:

• Aspiration pneumonia, an infection caused by inhaling food or liquid into the lungs^[1][2]
• Lung infections^[2]
• Bronchiectasis (damaged airways)^[2]
• Malnutrition due to difficulty eating^[2]
• Increased risk of oesophageal cancer^[2][4]

There is a link between long-term achalasia and the risk of developing cancer of the oesophagus, but the risk is small^[4].

How is Achalasia Diagnosed?

If a doctor thinks a patient has achalasia, they will be referred to hospital for diagnostic tests^[4]. A healthcare provider will do a physical exam and ask about symptoms and how long they have been present^[2].

Several tests are commonly used to diagnose achalasia:

Oesophageal manometry is the most helpful test for diagnosing achalasia^[1][7]. A small plastic tube is passed through the mouth or nose into the oesophagus to measure the muscle pressure at different points^[4]. The patient swallows during the test, and the instrument evaluates how the muscles move and whether they are malfunctioning^[14]. This test provides a definitive diagnosis^[16].

Barium swallow test (also called an oesophagram or upper gastrointestinal series) involves drinking a white liquid containing barium, which shows up clearly on X-rays^[4][6]. X-rays are taken as the barium moves through the oesophagus, allowing doctors to see how long it takes to move into the stomach and identify any structural or functional problems^[14].

Upper endoscopy (also called esophagogastroduodenoscopy or EGD) uses a thin, flexible instrument with a camera passed down the throat^[4]. This allows the doctor to look directly at the lining of the oesophagus, the ring of muscle, and the stomach^[4]. It can be used to find blockages and collect tissue samples for testing^[7].

Treatment Options

There is no cure for achalasia. Once the oesophagus is damaged, the muscles cannot work properly again^[1]. However, symptoms can usually be managed with various treatment approaches^[1]. Treatment focuses on relaxing the lower oesophageal sphincter so that food and liquid can move more easily into the stomach^[7].

Medication

Medicines such as nitrates or calcium channel blockers can help relax the muscles in the oesophagus^[4]. This makes swallowing easier and less painful for some people, although they don’t work for everyone. The effect only lasts for a short time, so medicine may be used to ease symptoms while waiting for more permanent treatment^[4]. These medications may cause headaches, but this usually improves over time^[4].

Botox Injections

Using an endoscope, Botox is injected into the ring of muscle at the bottom of the oesophagus, causing it to relax^[4]. Botox blocks the release of a chemical that makes muscles contract^[11]. It is usually effective for a few months and occasionally for a few years, but the treatment must be repeated^[4]. This is usually painless and can be used for temporary relief in people who are not able to have other treatments^[4].

Balloon Dilation (Pneumatic Dilation)

Under sedation or general anaesthetic, a balloon is passed into the oesophagus using an endoscope^[4]. The balloon is then inflated to help stretch the ring of muscle that lets food into the stomach^[4]. This improves swallowing for most people, but treatment may need to be repeated several times before symptoms improve^[4]. The success rate is 70-80%^[11]. Balloon dilation carries a small risk of tearing the oesophagus, which may require emergency surgery^[4][11].

Surgery – Heller Myotomy

Under general anaesthetic, the muscle fibers in the ring of muscle that lets food into the stomach are cut^[4]. This procedure is called a Heller myotomy and is done using keyhole surgery (laparoscopy)^[4]. It can permanently make swallowing easier. Often a second procedure is done at the same time to prevent acid reflux and heartburn, which can be side effects of the operation^[4].

Peroral Endoscopic Myotomy (POEM)

POEM is a less invasive approach and represents the latest advancement in achalasia treatment^[5]. While the patient is under general anesthesia, the sphincter is cut using an endoscope without making any external incisions^[5]. The endoscope is used to create a small tunnel underneath the lining of the oesophagus, through which the inner muscle layer is cut^[16]. The procedure takes about 90 minutes and offers patients a quicker recovery with reduced pain^[5]. Patients often leave the hospital the same day or after a one-night stay^[5]. This procedure is available at only a small number of specialized centers^[5].

Living with Achalasia

Although there is no cure for achalasia, there are ways to make living with it easier through lifestyle changes and coping strategies^[14].

Eating and Drinking Tips

Several practical strategies can help manage symptoms:

• Eat slowly and chew food very well^[13][14]
• Drink plenty of water with meals, even sipping water while chewing^[13][14]
• Don’t eat late at night or close to bedtime^[13][14]
• Prop your head up when you sleep^[13][14]
• Avoid foods that cause acid reflux^[13][14]

Individual experiences can differ very widely—there is no “one size fits all” for achalasia^[12]. Some people have bad experiences with certain kinds of food, but this may not cause problems for others. Problem foods often have an inconsistent effect—reflux or regurgitation one day may not occur another day^[12].

The most likely place for food to get stuck is just above the lower oesophageal sphincter^[12]. Relatively small variations in food texture can create a physical blockage, especially if food cannot be chewed into a soft consistency^[12]. The main problems are food that causes an obstruction, congeals, causes irritation, or is at the wrong temperature^[12].

Importance of Seeking Treatment

If left untreated, individuals with achalasia face a difficult future^[5]. The oesophagus can continue to expand and develop curves. People who are not treated have a reduced response to standard treatments when they reach the final stages of achalasia, and they may even need a feeding tube to maintain nutrition^[5]. It is always important to get symptoms checked straight away, even if symptoms are not particularly bothersome^[4].

Following treatment, patients typically eat a soft diet for a few weeks and take acid-suppressing medication for several months^[5]. While none of these treatments cure achalasia, they allow patients’ symptoms to resolve and bring back their swallowing ability^[5]. Patients who may have felt limited by their disorder often feel more comfortable eating in public settings again without the fear of regurgitation or vomiting^[5].