Achalasia is a rare disorder affecting the esophagus, the muscular tube responsible for carrying food from the throat to the stomach. It is defined by the esophagus failing to function correctly. Normally, coordinated muscular contractions, known as peristalsis, propel food downward. In individuals with achalasia, these contractions are impaired or absent.
Simultaneously, the ring of muscle at the bottom of the esophagus, called the lower esophageal sphincter (LES), does not relax as it should. This sphincter acts as a one-way valve, opening to allow food into the stomach and closing to prevent stomach contents from backing up. When the LES fails to open properly, food and liquids become trapped in the esophagus, leading to the condition’s symptoms. This motility issue affects approximately 1 in 100,000 people annually.
Symptoms and Underlying Causes
The symptoms of achalasia often develop gradually over months or years. The most prominent symptom is difficulty swallowing (dysphagia) for both solid foods and liquids. Individuals may feel as though food is stuck in their chest. This can lead to regurgitation of undigested food and saliva, sometimes causing coughing or choking, particularly when lying down.
Chest pain, which can be severe and mistaken for a heart condition, is another common experience, often occurring after meals. Because of the difficulty in getting food to the stomach, many people experience unintentional weight loss. Heartburn and difficulty belching are also frequently reported. These symptoms arise because the esophagus becomes progressively stretched and dilated from the retained food and liquid.
The cause of achalasia is the degeneration of nerve cells in the esophageal wall. This damage prevents the esophageal muscles from contracting properly and stops the lower esophageal sphincter from relaxing. For most people, the reason for this nerve cell damage remains unknown, a condition referred to as idiopathic achalasia.
Researchers are exploring several potential triggers for this nerve damage. One leading theory involves an autoimmune response, where the body’s own immune system mistakenly attacks the nerve cells in the esophagus. Some evidence suggests that a viral infection may initiate this autoimmune reaction in genetically predisposed individuals. In certain regions, particularly Latin America, a parasitic infection known as Chagas disease has been identified as a specific cause of achalasia.
The Diagnostic Process
Confirming a diagnosis of achalasia involves a series of specific tests to evaluate the structure and function of the esophagus. Because symptoms can mimic other conditions like gastroesophageal reflux disease (GERD), definitive testing is necessary. These evaluations help rule out other causes and clarify esophageal muscle and sphincter activity.
A common initial test is a barium swallow, also known as an esophagram. During this procedure, the patient drinks a liquid containing barium, a substance that coats the inside of the esophagus and makes it visible on an X-ray. As the barium travels down, radiologists look for characteristic signs of achalasia, such as a lack of normal, wave-like muscle contractions. A key finding is a dilated esophagus that tapers to a narrow point at the lower esophageal sphincter, creating an image called a “bird’s beak.”
The definitive diagnostic tool for achalasia is esophageal manometry. This test directly measures the pressure and coordination of muscle contractions inside the esophagus. A thin, flexible tube containing pressure sensors is gently passed through the nose, down the throat, and into the esophagus. The patient is then asked to swallow small sips of water while the sensors record muscle activity. Manometry confirms the diagnosis by showing two features: the absence of effective peristalsis and the failure of the lower esophageal sphincter to relax upon swallowing.
An upper endoscopy, or esophagogastroduodenoscopy (EGD), is also frequently performed. In this procedure, a doctor uses a thin, lighted tube with a camera to visually inspect the lining of the esophagus, stomach, and the first part of the small intestine. The primary purpose of the EGD is to rule out other conditions that could cause similar symptoms, such as tumors or inflammation, which might be obstructing the esophagus. It also allows the doctor to see retained food and saliva, which is a common finding in achalasia.
Available Treatment Options
Treatments for achalasia aim to reduce the pressure at the lower esophageal sphincter (LES), allowing food and liquid to pass more easily into the stomach. These interventions do not restore lost nerve function but provide long-term symptom relief. The choice of treatment depends on the type of achalasia, patient age, health, and shared decision-making.
- Pneumatic dilation is a non-surgical endoscopic procedure. A balloon is passed through an endoscope and positioned within the LES. The balloon is then rapidly inflated to stretch and disrupt the muscle fibers of the sphincter, weakening its grip. The procedure may need to be repeated over time to maintain its effectiveness.
- A Heller myotomy is a surgical approach, typically performed using minimally invasive laparoscopic techniques. A surgeon makes small incisions in the abdomen to cut the muscle fibers of the lower esophageal sphincter. This permanently weakens the valve, relieving the obstruction. To prevent acid reflux, the myotomy is often combined with a partial fundoplication.
- A peroral endoscopic myotomy (POEM) is performed through an endoscope inserted via the mouth and requires no external incisions. The endoscopist creates a tunnel within the wall of the esophagus to access and cut the muscle fibers of the LES from the inside. POEM is highly effective but has a higher incidence of post-procedure gastroesophageal reflux disease.
- Injections of botulinum toxin (Botox) into the LES offer a temporary solution for individuals who are not suitable candidates for dilation or surgery. Administered via an endoscope, the toxin works by blocking the nerve signals that cause the sphincter muscle to contract, thereby relaxing it. The effects are not permanent, lasting for six months to a year, and subsequent injections may become less effective.
Life After Treatment and Long-Term Management
Following a successful procedure, most individuals experience a significant improvement in swallowing. However, life after treatment requires ongoing management and lifestyle adjustments to maintain comfort. The esophagus does not regain normal function, so food relies more on gravity to reach the stomach.
Dietary modifications are a common aspect of long-term management.
- Eat smaller, more frequent meals rather than three large ones.
- Chew food thoroughly and eat slowly to prevent discomfort.
- Drink plenty of water with meals to help wash food down.
- Avoid very dry or sticky foods.
- Remain upright for a period after eating and avoid meals close to bedtime to prevent regurgitation.
Managing acid reflux (GERD) can become a new focus, particularly after a POEM procedure. Symptoms of heartburn or regurgitation of acidic stomach contents may require management with medication or further dietary changes. Elevating the head of the bed can also help reduce nighttime reflux.
Regular follow-up with a gastroenterologist is an important part of long-term care. Because achalasia is associated with a small but increased risk of developing esophageal cancer over many years, periodic surveillance with endoscopy may be recommended. This monitoring helps detect any changes in the esophageal lining early.