Achalasia

Overview

Achalasia is a rare disease that causes swallowing difficulty as a result of the inability of the muscles in the lower part of the esophagus to relax. The esophagus is a muscular tube approximately 25 cm long that goes from the mouth to the stomach. Normally there is a ring of muscle (lower esophageal sphincter) at the lower end of the esophagus that works like a valve. This valve opens when you swallow food or liquid, allows food to pass into the stomach, then closes.

In this disease, the lower valve does not work properly. When you swallow, the valve does not open enough or does not open at all. At the same time, the muscles of the esophagus cannot make the coordinated contractions (peristalsis) necessary to push food to the stomach. As a result, food and liquids accumulate in the esophagus and cannot reach the stomach.

Achalasia is usually a slowly progressive disease. Symptoms develop gradually over months or years. At first it begins as mild swallowing difficulty. Over time, swallowing solid foods becomes difficult. In advanced stages, even swallowing liquids becomes a problem. If not treated, serious weight loss and nutritional problems occur.

The exact cause of the disease is not known. However, it is thought that the disease occurs as a result of damage to the nerves that control the esophageal muscles. There are theories that the immune system attacks its own nerve cells (autoimmune process) or that viral infection leads to nerve damage. Achalasia is not hereditary and does not run in families.

Achalasia can occur at any age but is usually diagnosed in adults between ages 25-60. It occurs with equal frequency in men and women. It is a quite rare disease, approximately 1 new case per 100,000 people occurs each year.

Achalasia is a treatable disease but does not completely resolve. Treatment focuses on relaxing the valve. This can be done with balloon dilation, medication injection, or surgery. Treatment significantly relieves symptoms and patients can return to their normal lives.

Symptoms

Achalasia symptoms develop slowly and worsen over time. At the beginning, symptoms may be very mild and can be ignored.

Achalasia symptoms include the following:

• Swallowing difficulty (dysphagia). This is the most pronounced and most common symptom. At the beginning you only have difficulty swallowing solid foods (like bread, meat). As the disease progresses, swallowing soft foods and even liquids becomes difficult. You feel as if food is stuck in your throat. Some people have to drink a lot of water to be able to swallow food. Swallowing difficulty is more pronounced when you are stressed or eating quickly.
• Food coming back up (regurgitation). Food and liquids accumulated in the esophagus come back to the mouth. This is not vomiting because the food never reached the stomach. The food that comes back up is undigested. It especially happens a few hours after eating or when lying down. At night you may find food residue on your pillow. This situation is very disturbing and can lead to social problems.
• Chest pain. Pain or discomfort is felt in the chest when the esophagus tries to contract. The pain is in the middle of the chest, behind the breastbone. Sometimes the pain can be very severe and can be confused with a heart attack. Pain is more pronounced after meals or at night.
• Weight loss. You cannot eat enough food due to swallowing difficulty. Over time, involuntary weight loss occurs. Some people begin to fear eating because eating is painful. In serious cases, nutritional deficiency can develop.
• Hiccups. Frequent and disturbing hiccups can occur. Nerve irritation occurs due to accumulation in the esophagus.
• Burning sensation (heartburn). There may be a burning sensation in the chest. This occurs due to fermentation of accumulated food in the esophagus or stomach acid escaping upward. It can be confused with reflux disease.
• Coughing and choking sensation. Especially at night in lying position, the contents of the esophagus can escape to the lungs (aspiration). This causes coughing, choking sensation, and shortness of breath. It can lead to recurrent lung infections (pneumonia).
• Bad breath. Food accumulated in the esophagus causes bad odor.

Symptoms progress slowly. At the beginning you have problems once or twice a month. Over time you have difficulty with every meal. Some days may be worse than others.

When to See a Doctor

Swallowing difficulty is a serious symptom and must definitely be evaluated. Early diagnosis and treatment prevent complications.

See a doctor in the following situations:

• If you constantly have difficulty swallowing solid foods
• If you have begun to have difficulty even swallowing liquids
• If food frequently comes back to your mouth
• If you have involuntary weight loss
• If you experience chest pain after meals
• If you have coughing and choking sensation at night
• If you are having recurrent lung infections
• If you feel severe pain when swallowing

Swallowing difficulty can result from many different causes. Some can be symptoms of serious diseases. For this reason, do not take symptoms lightly and definitely see a doctor.

Causes

The exact cause of achalasia is not known. However, it is thought that the disease occurs as a result of damage to the nerves that control the esophageal muscles.

Possible causes of achalasia are as follows:

• Nerve damage. This is the most accepted theory. There are nerve cells (ganglion cells) in the wall of the esophagus. These nerves ensure coordinated functioning of the muscles. In achalasia, these nerve cells disappear or are damaged. Without nerves, the muscles cannot contract properly and the lower valve cannot relax. Why nerve cells disappear is not exactly known.
• Autoimmune process. The body's immune system can mistakenly attack its own esophageal nerves. Immune cells damage and destroy nerve tissue. This theory has been supported by some research but has not been definitively proven.
• Viral infection. It is thought that some viruses can lead to nerve damage. Especially measles virus and human papilloma virus (HPV) have been investigated. However, a clear connection could not be established.
• Hereditary factors. Achalasia is usually not hereditary and does not run in families. However, very rarely it can be seen in more than one person in some families. In these cases there may be genetic predisposition.
• Chagas disease. This is a parasitic infection seen in South America. A parasite called Trypanosoma cruzi damages nerve cells and leads to achalasia-like symptoms. However, this condition is not true achalasia but is called secondary achalasia.

No relationship has been shown between achalasia and lifestyle, nutrition, or environmental factors. The disease is not contagious and does not pass to other people.

Risk Factors

There are no obvious risk factors for achalasia. The disease appears randomly.

Conditions associated with achalasia are as follows:

• Age. It can occur at any age but is usually diagnosed in adults between ages 25-60. It is rarer in children and the elderly.
• Genetic syndromes. Very rarely, achalasia can be seen in some genetic diseases such as Allgrove syndrome (Triple A syndrome). In this syndrome, achalasia, tear deficiency, and adrenal insufficiency are found together. However, these conditions are extremely rare.
• Autoimmune diseases. Achalasia risk may increase slightly in people with other autoimmune diseases. However, this connection is weak.

There is no known modifiable risk factor for achalasia. There is no way to prevent the disease.

Diagnosis

Achalasia diagnosis is made with your symptoms, physical examination, and special tests. Several different tests may be needed for diagnosis.

The methods used in achalasia diagnosis are as follows:

• Medical history and physical examination. The doctor asks your symptoms in detail. When did your swallowing difficulty start, how did it progress, what foods do you have difficulty with, how much weight have you lost, is there food coming back up - such questions. In physical examination there is usually no special finding but symptoms of weight loss and nutritional deficiency can be seen.
• Barium esophagus x-ray (esophageal film). This is the first test done. You drink a white-colored liquid called barium. Barium is visible on x-ray. While x-ray is taken, the passage of barium through the esophagus is monitored. In achalasia, narrowing in the lower part of the esophagus and widening in the upper part are seen. The esophagus appears "bird beak" shaped. Barium's passage to the stomach is very slow or does not pass at all.
• Esophageal manometry. This is the gold standard test in achalasia diagnosis. A thin catheter (tube) is advanced from your nose or mouth to the esophagus. The catheter measures the pressure and movements of the esophageal muscles. You are asked to swallow and contractions are recorded. In achalasia, the pressure of the lower valve is high and does not relax. Esophageal muscles cannot make coordinated contractions. This test can be a bit uncomfortable but is painless and takes approximately 30 minutes.
• Endoscopy (upper gastrointestinal endoscopy). A thin camera (endoscope) is advanced from the mouth to the esophagus, stomach, and small intestine. The doctor sees the inside of the esophagus directly. In achalasia, accumulated food residue can be seen in the esophagus. The lower valve is tightly closed. Endoscopy does not diagnose achalasia but is important for ruling out other diseases (cancer, stricture, infection). During the procedure, mild sedative is given and it takes 15-20 minutes.
• Chest CT or MRI. May rarely be needed. Especially in elderly patients it is used to differentiate from esophageal cancer. Also, masses outside the esophagus that could be the cause of achalasia are investigated.

After diagnosis, the achalasia type is determined. There are three main types.

• Type 1 (classic achalasia) the esophagus does not contract
• Type 2 (compression achalasia) muscles contract together but there is no coordination
• Type 3 (spastic achalasia) there are irregular spasms.

Type 2 usually responds best to treatment.

Treatment

The goal of achalasia treatment is to relax the lower valve and facilitate the passage of food to the stomach. The disease does not completely resolve but treatment significantly relieves symptoms.

The methods used in achalasia treatment are as follows:

• Medication treatment. Usually not the first choice because its effect is limited. Calcium channel blockers (like nifedipine) or nitrates (like isosorbide mononitrate) can temporarily relax the lower valve. Medications are taken 30-45 minutes before meals. There may be side effects (headache, low blood pressure, foot swelling). Usually used only in mild cases or patients who cannot have surgery. Its effect decreases in the long term.
• Botulinum toxin (Botox) injection. Botox is injected into the lower valve during endoscopy. Botox temporarily paralyzes the muscles and the valve relaxes. The procedure is easy and does not require hospital stay. However, the effect usually lasts only 6-12 months. Then injection is needed again. Usually preferred in elderly patients or those with high surgical risk. Repeated injections can create scar tissue and make subsequent surgeries difficult.
• Balloon dilation (pneumatic dilation). This is an effective treatment method. A special balloon is placed on the lower valve during endoscopy. The valve is forcibly widened by inflating the balloon. Muscle fibers tear and the valve relaxes. The procedure takes approximately 30-60 minutes and is usually done under light sedation. Success rate is between 70-90 percent. Several sessions may be needed in some patients. The most important risk is hole formation in the esophagus. This is called perforation. Perforation risk is approximately 1-2 percent. If perforation occurs, emergency surgery is needed. Other risks are bleeding and reflux development.
• Surgical treatment (Heller myotomy). This is the most effective and permanent treatment method for achalasia. In surgery, the muscle fibers of the lower valve are cut, thus the valve is permanently relaxed. The procedure is usually done with laparoscopic (closed) method. Camera and instruments are inserted through small incisions in the abdomen. After muscle fibers are cut, an anti-reflux procedure (fundoplication) is usually also added. This prevents stomach acid from escaping upward. Surgery takes 1-2 hours and requires 1-3 days hospital stay. Success rate is 85-95 percent. Risks are infection, bleeding, esophageal hole, and reflux development. Usually preferred in young patients and type 2 achalasia.
• POEM (Peroral endoscopic myotomy). This is a new technique. Endoscopically (with camera through mouth) entry is made under the esophageal wall and muscles are cut from inside. No external incision is made. The procedure takes approximately 2 hours. Hospital stay is 1-2 days. It is an effective method but not yet done at every center. Whether its long-term results are as good as surgery is being investigated.

Treatment selection is made according to your age, general health condition, achalasia type, and personal preference. Your doctor will recommend the most appropriate option for you.

Complications

Untreated or inadequately treated achalasia can lead to some complications.

Complications of achalasia are as follows:

• Nutritional deficiency and weight loss. Serious weight loss and vitamin deficiencies develop due to inability to eat enough food. Protein, iron, B12 vitamin deficiency can be seen. Muscle loss and general weakness occur.
• Aspiration pneumonia. Escape of esophageal contents to the lungs (aspiration) causes lung infection. Especially at night in lying position risk increases. Recurrent lung infections can lead to permanent lung damage.
• Esophageal dilation (mega esophagus). In untreated achalasia, the esophagus dilates too much over time and deformity occurs. In this case, treatment becomes much more difficult and chance of success decreases.
• Esophageal cancer. Long-term achalasia increases esophageal cancer risk. Risk is 10-33 times higher compared to normal population. The irritating effect of food constantly accumulating in the esophagus can contribute to cancer development. For this reason, achalasia patients should be followed regularly and endoscopy should be done with suspicious symptoms.
• Reflux (heartburn). If the lower valve relaxes too much after balloon dilation or surgery, stomach acid can escape to the esophagus. This leads to burning sensation and esophageal inflammation (esophagitis). It can be treated with medications.
• Recurrence. Symptoms can recur over years after treatment. Especially after balloon dilation, recurrence rate is between 10-30 percent. Recurrence after surgery is rarer but still possible. In case of recurrence, treatment can be repeated.

Living with Achalasia

Living with achalasia may seem difficult at first, but with appropriate treatment most people can lead normal lives.

Eating Habits

• Eat small and frequent meals. Large meals overfill the esophagus. Prefer 5-6 small meals a day.
• Eat slowly and chew well. Chew food until mashed. Drink plenty of water to swallow each bite.
• Stay upright for at least 2-3 hours after meals. Do not lie down immediately. Gravity helps food go down to the stomach.
• Prefer soft and liquid foods. Solid foods like dry bread, meat, and rice are harder to swallow. Soup, puree, yogurt, fruit juices are easier.
• Avoid very hot or very cold foods. These can trigger esophageal spasms.

Bed Position

Elevate the head of your bed 15-20 cm. Use several pillows or place boards under the bed legs. This reduces nighttime aspiration risk.

Sleep on your left side. Due to stomach anatomy, this position facilitates food passage.

Medication Use

If reflux develops after treatment, you may need to use stomach acid reducing medications (proton pump inhibitors). Use regularly.

If spasm develops in the esophagus, your doctor may recommend muscle relaxant medications.

Regular Follow-up

Go for regular doctor checkups even after treatment. Checkups every 6 months in the first year, then once a year are recommended.

If new symptoms develop (increased swallowing difficulty, weight loss, chest pain), see your doctor immediately.

Since cancer risk increases due to long-term achalasia, your doctor may recommend endoscopy at certain intervals.

Social Life

Achalasia can affect social life. Eating out or going to invitations can create anxiety. However, most people return to normal social life after treatment. Tell people you trust about your condition. They will be understanding.

Choose soft foods at restaurants and do not rush.

Psychological Support

Living with chronic disease can be emotionally difficult. If you feel worry, anxiety, or depression, get psychological support.

Joining support groups can be beneficial. Connecting with people experiencing similar problems makes you feel you are not alone.

Preparing for Your Appointment

What you can do:

• Note when your swallowing difficulty started and how it progressed
• Write what foods you have difficulty swallowing
• Record your weight loss (if any)
• Note how often food comes back up
• List medications you use
• Write your past illnesses and surgeries
• Write your questions in advance

Questions you can ask your doctor are as follows:

• Do I have achalasia or is it another problem?
• What tests do I need to have?
• What are my treatment options?
• Which treatment is most appropriate for me?
• What are the risks and side effects of treatment?
• How long after treatment will I improve?
• Can the disease recur?
• What should I pay attention to regarding nutrition?
• How often should I come for checkups?

Questions your doctor may ask you are as follows:

• When did your swallowing difficulty start?
• Do you have more difficulty with solid or liquid foods?
• Does food come back to your mouth?
• How much weight have you lost?
• Do you have chest pain?
• Do you experience coughing or choking sensation at night?
• Do you have heartburn symptoms?
• Have you had esophagus or stomach problems before?
• Is there similar disease in the family?