Achalasia

Overview

Achalasia is a rare disorder that affects the esophagus, making it difficult for food and liquid to pass into the stomach. It occurs when nerves in the esophagus become damaged, leading to paralysis and dilation of the muscle over time. As a result, the esophagus loses the ability to push food down into the stomach. Symptoms include difficulty swallowing, regurgitating food or saliva, heartburn, belching, chest pain, coughing at night, pneumonia, weight loss, vomiting, and a sensation of food being stuck in the throat. There is no cure for achalasia, but symptoms can be managed with endoscopy, minimally invasive therapy, or surgery. The exact cause of achalasia is not well understood, but researchers suspect it may be caused by a loss of nerve cells in the esophagus.

Understanding the disease

Symptoms

The symptoms of achalasia include difficulty swallowing (dysphagia), regurgitating food or saliva, heartburn, belching, chest pain that comes and goes, coughing at night, pneumonia (from aspiration of food into the lungs), weight loss, and vomiting.

Development

The exact cause of achalasia is poorly understood, but researchers suspect it may be caused by a loss of nerve cells in the esophagus. Some theories suggest it could be due to viral infection or autoimmune responses, although these are not confirmed. In very rare cases, achalasia may be caused by an inherited genetic disorder or infection.

Assessment and Diagnosis

Triage

You should see a doctor if achalasia is suspected when your child experiences any of the following symptoms:

1. Inability to swallow (dysphagia)
2. Regurgitating food or saliva
3. Heartburn
4. Chest pain that comes and goes
5. Coughing at night
6. Pneumonia (from aspiration of food into the lungs)
7. Weight loss
8. Vomiting If any of these symptoms are present, it is important to seek medical attention to manage the symptoms and create an appropriate treatment plan.

Diagnosis

To diagnose achalasia, your doctor is likely to recommend an esophageal manometry test. This test measures the rhythmic muscle contractions in your esophagus when you swallow, the coordination and force exerted by the esophagus muscles, and how well your lower esophageal sphincter relaxes or opens during a swallow. Esophageal manometry is the most helpful test when determining which type of motility problem you might have.

Management and Treatment

Complications

Potential complications of achalasia include:

1. Pneumonia: Due to the regurgitation of food and stomach acid into the lungs, there is an increased risk of developing pneumonia.
2. Aspiration pneumonia: This occurs when food or stomach contents are inhaled into the lungs, leading to a serious lung infection.
3. Esophageal ulcers: Long-term acid reflux can cause ulcers in the esophagus, which may lead to bleeding, scarring, and narrowing of the esophagus.
4. Esophageal cancer: Although rare, people with achalasia have a higher risk of developing esophageal cancer due to prolonged irritation from stomach contents.
5. Nutritional deficiencies: Difficulty swallowing and chronic regurgitation can lead to malnutrition and weight loss if left untreated.
6. Respiratory complications: Over time, the pressure exerted on the thoracic spine and the heart by the enlarged diaphragm can cause respiratory and heart problems.
7. Reduced quality of life: The chronic symptoms of achalasia, such as difficulty swallowing and regurgitation, can significantly impact an individual's daily life and overall well-being. It is essential to seek medical attention and follow the recommended treatment plan to manage achalasia and reduce the risk of these complications.

Treatment

Treatments for achalasia include endoscopy, minimally invasive therapy, and surgery. These methods help manage the symptoms of achalasia, which typically involve difficulties in swallowing, regurgitation of food or saliva, heartburn, belching, chest pain, coughing, pneumonia, weight loss, and vomiting. Since the exact cause of achalasia is not well understood, the treatments focus on managing the symptoms rather than curing the condition itself.

Preparing for medical consultation

To prepare for an appointment for achalasia, follow these steps:

1. Be aware of pre-appointment restrictions: When you make the appointment, ask if there are any dietary or other restrictions you should follow in the days leading up to your visit.
2. Write down your symptoms: Record any symptoms you've experienced, including difficulty swallowing, regurgitation, chest pain, or heartburn. Note when they began and how often they occur.
3. Gather your medical history: Make a list of any other health conditions you have, as well as any medications, vitamins, or supplements you are currently taking. Include family history of achalasia or other esophageal disorders.
4. Prepare a list of questions: Compile a list of questions you'd like to ask your healthcare provider during the appointment. This may include inquiries about diagnosis, treatment options, and potential side effects.
5. Bring your medical records: Bring any previous test results, imaging reports, or medical records related to your symptoms or esophageal issues.
6. Consider bringing a family member or friend: It can be helpful to have someone with you for support and to assist with remembering information discussed during the appointment.
7. Discuss isolation and office visit instructions: Ask your doctor if you should isolate yourself before the appointment to avoid spreading infection, and if there are any specific instructions for your office visit. By being well-prepared for your appointment, you can ensure that you and your healthcare provider have a productive conversation and that you receive the most appropriate care for your achalasia.