Achalasia: symptoms, causes, tests and treatment

The NHS says not everyone with achalasia has symptoms, but most people find it difficult to swallow food or drink (dysphagia). Swallowing tends to get gradually more difficult or painful over a couple of years, to the point where it is sometimes impossible. Symptoms may start at any time of life.

Guts UK says the most common symptom is difficulty swallowing with both food and liquids, and food may feel as if it is stuck in the oesophagus after eating, causing chest discomfort or pain. Symptoms may be present for months or even years before a person seeks help. Regurgitation can cause choking or coughing and may lead to chest infections if food goes into the lungs, and weight loss is common because less food is eaten.

• Difficulty swallowing food and drink (dysphagia).

• Bringing back up undigested food.

• Choking and coughing fits.

• Heartburn and chest pain.

• Repeated chest infections.

• Drooling of vomit or saliva.

• Gradual but significant weight loss.

The NHS says there is no cure for achalasia, but treatment can help relieve the symptoms and make swallowing easier, and your doctors will talk to you about the risks and benefits of the options. Guts UK says the aim is to relax the sphincter so that food can pass into the stomach, and that the choice depends on factors such as fitness for surgery, other health conditions, time to diagnosis and personal choice.

Guts UK describes dilatation, POEM and surgery (Heller's myotomy) as treatments with similar benefit that are recommended. It adds that botox can be a useful and relatively safe approach for people who are unfit for other treatments, and that medications are not as effective and are not recommended by recent guidelines. The NHS describes medicines such as nitrates or nifedipine as short-lived, used to ease symptoms while you wait for a more permanent treatment.

Normally, the NHS explains, the muscles of the oesophagus contract to squeeze food along towards the stomach, and a ring of muscle at the end of the food pipe relaxes to let food into the stomach. In achalasia the muscles do not contract correctly, and the ring of muscle can fail to open properly or does not open at all. Food and drink cannot pass into the stomach and become stuck, and are often brought back up.

Guts UK describes achalasia as a progressive condition affecting the nerves and muscles of the oesophagus, mainly the lower end where it meets the stomach. It says it can affect all ages, and that in children 1 in 263,200 are diagnosed. Over time, it says, the oesophagus can become enlarged (dilated).

Guts UK describes three types of achalasia, based on how the oesophagus muscles behave when swallowing, and says some people can have more than one type. The type can be identified on oesophageal manometry and may influence which treatment is advised.

The NHS says achalasia is thought to happen when the nerves in the oesophagus become damaged and stop working properly, which is why the muscles and ring of muscle do not work. The exact cause is unknown. In some people it may be linked to a viral infection, and it may be associated with an autoimmune condition, where the immune system attacks healthy cells, tissue and organs. In rare cases it is possible that achalasia is caused by a faulty gene.

Guts UK says that in most cases the cause is unknown, that it might be caused by an infection or an autoimmune condition, and that more research is needed to know for sure.

The NHS says that if a GP thinks you have achalasia you will be referred to hospital for diagnostic tests, and that it may also be found during an investigation for another reason, such as a chest X-ray. Guts UK says achalasia is rare with non-specific symptoms that can be challenging to diagnose, and that the average time for an adult to be diagnosed is 15 years.

The tests described are manometry (a thin plastic tube passed through the nose into the oesophagus to measure muscle pressure, the main investigation, taking about thirty minutes), a barium swallow (you drink a white liquid and X-rays are taken to show how it moves into the stomach) and endoscopy (a thin flexible camera passed down the throat to look at the lining of the oesophagus, the ring of muscle and the stomach).

Guts UK says achalasia affects quality of life through difficulty swallowing, which can affect the ability to go out for meals or eat familiar foods, and can affect weight and nutrition. If you are struggling with your food or fluid intake it suggests asking your doctor for a referral to a dietitian. If you cannot maintain a healthy weight and become malnourished, other feeding methods such as nasogastric feeding may be needed.

The NHS and Guts UK both note that balloon dilation and surgery can cause side effects such as acid reflux, heartburn and chest pain, which a GP may be able to treat with medicine. Guts UK lists self-help measures: chew food well, eat sitting upright, sleep with a few pillows or a wedge pillow so that you are not completely flat, and avoid eating within three hours of bedtime.

Guts UK describes rare complications. Over a long period the oesophagus can stretch until it becomes very wide (mega-oesophagus), and when the muscles cannot stretch any more it can tear or burst. Symptoms include sudden-onset abdominal or chest pain that can feel like a tearing pain, bringing up blood, and becoming very unwell very quickly. It says this is a medical emergency, and in an emergency you should call 999.

The NHS says it is important to get swallowing problems checked straight away, even if symptoms are not bothering you, because swallowing problems can also be caused by cancers of the mouth, throat and oesophagus. On its dysphagia page, the NHS advises asking for an urgent GP appointment or getting help from NHS 111 if you have difficulty swallowing, cough or choke while eating or drinking, feel something is stuck in the throat after eating, or keep bringing food back up.

Guts UK says no specific monitoring is needed for the low cancer risk, but to let your doctor know as soon as you can about any changes in symptoms. The NHS advises seeing a GP if you still have swallowing difficulties or are continuing to lose weight after treatment.

On the NHS, a GP can refer you to hospital for tests such as manometry, and treatment is planned with a specialist team that explains the risks and benefits of each option. Waiting times vary by area.

Some people choose a private gastroenterologist or surgeon for a second opinion or earlier tests. If you do, share reports with your NHS GP and ask the clinician about the evidence and experience behind the treatment they recommend for your type of achalasia.