Achalasia

This factsheet is about achalasia

Achalasia is a condition that affects the nerves and muscles of the oesophagus (food pipe), mainly at the lower end where it meets the stomach. Achalasia hinders the passage of food and fluid down the oesophagus and entering the stomach which results in difficulty swallowing. It is uncommon with an incidence of 1 in 100, 000 new patients affected each year. It is a condition specific to the oesophagus and doesn’t affect any other sites in the gut.

Causes of achalasia

The lower oesophageal sphincter is a band of muscle between the oesophagus and the stomach that acts like a valve preventing food and fluid from going back up the oesophagus.  Achalasia occurs when the nerves and muscles of the lower part of the oesophagus waste away, causing an inability of the lower oesophageal sphincter to relax. This prevents food and fluids from entering the stomach. In addition, the muscles of the oesophagus lose their ability to contract in a co-ordinated way, further impairing the passage of food down the oesophagus. Over time, the oesophagus can become enlarged (dilated). In most cases the cause of achalasia is unknown. However, in rare cases it can be caused by specific infections.

What are the usual symptoms?

The most common symptom of achalasia is difficulty swallowing (dysphagia) that occurs with both food and liquids. Food may feel as if it is stuck in the oesophagus after eating, causing chest discomfort or pain. The symptoms may be present for months or even years before the patient seeks help. Regurgitation of food (bringing food back up) may occur as food is retained in the oesophagus and has nowhere to go except upwards. This can cause choking or coughing and may lead to chest infections if the food goes back down the wrong way and into the lungs. As a result of food not passing into the stomach and difficulty swallowing, less food is ingested and it is common to lose weight. Sometimes, no symptoms are experienced and the condition is diagnosed incidentally during tests for a different condition.

How is achalasia diagnosed?

The non-specific nature of the symptoms and the relative rarity of the condition mean that there can be a delay in diagnosis.  If achalasia is suspected by the doctor, usually based on symptoms, tests are needed to confirm the diagnosis. There are a number of tests:

• Oesophageal manometry: this test measures pressure waves in the oesophagus and is the main investigation for the diagnosis of achalasia.  A small plastic tube which holds pressure sensors is placed into the oesophagus via the nose. Over a period of thirty minutes, the sensors read the function of the oesophagus and detects any abnormalities.
• Barium swallow: this test involves drinking a white liquid called barium that highlights the shape/outline of the oesophagus under X-ray or other examination.  A barium swallow can be helpful alongside manometry to show whether there is enlargement of the diameter of the oesophagus.
• Endoscopy: this is where a small tube (the width of a small finger) with a camera on the end is inserted into the oesophagus and stomach via the mouth. The test is useful if a different cause of symptoms is suspected.

How can achalasia affect you?

Achalasia can affect you in two main ways. The first and most common is its overall impact on general well-being from the symptoms. This would include weight loss and poor nutrition so if you are unable to maintain a healthy weight and become malnourished, other feeding methods may be needed such as nasogastric feeding (feed through a tube which is placed into the stomach via the nose). Recurrent chest infections from regurgitation of food can be also problematic.

The other way that achalasia can affect you is because of the complications from the actual condition. These are both very rare and include:

• Mega-oesophagus: this is where over a long period of time the oesophagus continues to dilate until it becomes severely enlarged and the muscles cannot stretch anymore, sometimes causing the oesophagus to tear or burst. Symptoms can include sudden onset abdominal/chest pain that can be tearing, bringing up blood and becoming very unwell very quickly. This is a medical emergency.
• Cancer of the oesophagus: achalasia can very rarely be associated with this cancer and although highly unusual it is one of the reasons you should remain under outpatient follow up with a specialist.

What treatment is available for achalasia?

There are a number of treatment options, including medications, endoscopy procedures or surgery. Unfortunately, treatments can’t actually cure the underlying process causing achalasia, although they can significantly help with symptoms by aiming to relax the sphincter so that food can pass into the stomach. The outcome, including the likely benefits and risks, of the different treatment approaches vary depending on a number of factors.

Therefore, the right approach is to discuss the best management of your individual condition and personal circumstances with your specialist, taking into account factors like age, previous medical history, time to diagnosis and personal choices around treatment.

Treatments include:

• Medications: the aim of medications is to relax the sphincter at the lower end of the oesophagus, and reduced spasm in the oesophagus. Medications include two classes of drugs called nitrates or calcium channel blockers (e.g. nifedipine). These may not be effective in all patients and often become less effective over time. Side effects include headache, flushing and low blood pressure.
• Dilatation: this is where the sphincter is stretched open using a small balloon passed via an endoscope under sedation or general anaesthetic. Once in position, the balloon is inflated which stretches and breaks the fibres in the sphincter. It relieves symptoms in about 60% of patients, but sometimes more than one procedure may be needed. There are some risks, particularly of perforation, which the doctor will explain prior to the procedure.
• Botox: a substance called Botulinum toxin is injected into the sphincter, at the time of endoscopy. This relaxes the muscle fibres in the sphincter by temporarily paralysing nerves that signal the sphincter to contract. It can help with symptoms for a few months or up to one year. It is not a permanent treatment and usually has to be repeated. However, if a patient is elderly or unfit for other treatments such as surgery it is a useful and relatively safe approach.
• Endoscopy: new endoscopy therapies (e.g. POEM – per-oral endoscopic myotomy) are suitable for some patients as a permanent non-surgical treatment. These techniques are undertaken in specialist centres.
• Surgery: a procedure called a Heller myotomy is used to cut muscle fibres of the sphincter, aiming to permanently improve swallowing. The procedure is performed using key hole surgery (laparoscopy).

Unfortunately, all these treatments can lead to other side effects such as heartburn or reflux and persistent chest pain. To reduce symptoms of heartburn after treatment, ensure that food is chewed well, eat sitting upright, sleep with a few pillows so not completely flat and avoid eating within three hours of bedtime. If heartburn or pain is experienced, see the doctor who can prescribe some medications to help with this.

Does achalasia need to be monitored and, if so, how?

Monitoring of symptoms with regular follow-up visits is important, as mentioned above. A dietitian may be needed if you are struggling with your food or fluid intake.

How does Achalasia behave over time?

Unfortunately, there is no actual cure for achalasia. However, some patients will achieve reasonable symptom control with treatment although a small number of patients may have ongoing symptoms despite treatment.

What to ask your doctor when you see them?

• May I be referred to a dietitian to see if there are any changes to my diet that may help with my symptoms?
• How often do I need follow-up?
• Which is the best treatment for me in the long term?
• Is it safe to use acid suppressing medicines long-term if I need them?

Please don’t hesitate to contact Team Guts UK with any questions. To connect with others affected by achalasia and for further support, visit Achalasia Action. 

Guts UK charity is proud to be funding stem cell research into achalasia, currently undertaken by Dr Conor McCann. If successful, we may be able to treat achalasia by injecting new nerve cells into the relevant part of the gut to restore its function.

Meet our 3-year-old tiny superhero Grace

Grace has achalasia and her parents are eager to join our community and support Guts UK’s work in achalasia.

“We had never heard of achalasia before. It was a shock when we were told. We found it very difficult to understand that Grace’s condition is progressive and incurable. There is little known about achalasia, which can be frustrating as a parent. You just want answers and to be able to help.

We were so pleased to see the stem cell research that Guts UK fund into achalasia. We will be following with interest and pray this may be a cure in the future. In the meantime, as a family we will be doing everything we can to support their work” – Grace’s parents, Vanessa & Steve.

 

There is hope. Research into achalasia could lead to a clinical trial. A clinical trial could lead to a cure.

By the time Grace may be thinking about starting a family of her own, achalasia could be a condition of the past.

Together, we can fund life-changing research that means the world to families like Grace’s. Please consider donating to Guts UK today.