About Achalasia (Cardiospasm)

Overview

Achalasia is a rare condition that makes swallowing difficult due to problems with the lower esophageal sphincter (LES), a muscle that should relax to let food pass into the stomach. When the LES doesn’t relax properly, food backs up in the esophagus, causing symptoms like trouble swallowing, chest pain, and regurgitation. This disorder affects about 1 in 100,000 people each year and can be diagnosed with a test called high-resolution manometry (HRM).

The cause of achalasia is unknown, but it may involve nerve damage in the esophagus (Auerbach's plexus) or, in rare cases, be inherited. Symptoms can include swallowing difficulty, chest pain, food regurgitation, nighttime coughing, and weight loss. In severe cases, food can enter the lungs and cause pneumonia. Treatment options include medications (like isosorbide or nifedipine), pneumatic balloon dilation (to widen the LES), and surgery to release muscle tension in the LES.

Causes and Risk Factors

While researchers are still unsure about the exact causes of achalasia, they believe it may be related to the degeneration of a group of nerves known as Auerbach's plexus. In some cases, achalasia can also be inherited.

The risk factors that increase the chance of developing the condition include:

Age: Increasing age is a non-modifiable risk factor for achalasia. As people get older, their risk of developing achalasia increases.
Sex assigned at birth: Although the exact reason is not fully understood, studies have shown that being assigned male at birth may be a non-modifiable risk factor for achalasia. However, it is important to note that achalasia can affect people of all genders.
Genetics: Having a family history of achalasia can increase the risk of developing the condition. If someone has a close relative, such as a parent or sibling, who has been diagnosed with achalasia, their risk may be higher.

It's important to note that these risk factors do not guarantee the development of achalasia, and individuals without these risk factors can still develop the condition. If you have concerns about your risk for achalasia, it's best to consult with your healthcare professional for personalized advice.

Symptoms

The symptoms of achalasia can vary depending on the stage, progression, and severity of the condition. Here are the most common early symptoms of achalasia:

Difficulty swallowing solid food: One of the main symptoms of achalasia is difficulty swallowing solid food. This means that it becomes hard to get food down from your mouth to your stomach.
Regurgitation or vomiting of undigested food: Another symptom is regurgitation or vomiting of undigested food. This means that food that you have already swallowed comes back up into your mouth.
Chest pain, discomfort, or fullness under the breastbone: Some people with achalasia may experience chest pain, discomfort, or a feeling of fullness under the breastbone. This can happen especially after meals.

As the condition progresses or becomes more severe, additional symptoms may occur. These can include:

Difficulty belching: Belching, also known as burping, which is when you release gas from your stomach through your mouth, can become difficult for people with achalasia.
Difficulty swallowing solids and liquids: In later stages of the illness, both solid and liquid foods may be difficult to swallow.
Weight loss: Weight loss may occur in late stages of achalasia due to poor esophageal emptying and decreased or modified food intake.

Diagnosis

To diagnose achalasia, healthcare providers commonly perform the following examinations, tests, and procedures:

Physical exam: During a physical exam, the healthcare provider looks for physical signs of a medical problem, such as pain, swelling, or the presence of liquid or solid masses in the body.
Esophagogastroduodenoscopy (EGD): This diagnostic test involves inserting a flexible tube with a camera into the esophagus to examine its lining and check for any abnormalities.
Barium swallow: In this test, you will be asked to drink a liquid containing barium, which coats the esophagus and allows it to be visible on X-ray images. This helps identify any blockages or unusual changes in the esophagus.
Manometry: Manometry is a procedure that measures the pressure and movement of the esophagus. A thin tube is inserted through the nose and into the esophagus to assess how well it functions.
High-resolution manometry: This is an advanced type of manometry that provides more detailed information about esophageal function. It can help predict treatment outcomes and guide appropriate procedures for achalasia.

To determine the stage or severity of achalasia, additional examinations, tests, and procedures may be recommended:

pH Studies: These tests measure acid levels in the esophagus over a 24-hour period to check for acid reflux, which helps determine if GERD (acid reflux disease) is also present with achalasia.
Imaging Studies: X-rays or MRIs may be used to get a clear view of the esophagus's structure and how well it’s working.
Symptom Index Scales: Healthcare providers might use scales like the Reflux Symptom Index (RSI), Eating Assessment Tool-10 (EAT-10), and Voice Handicap Index-10 (VHI-10) to track symptoms before and after treatment.

It's important to follow up with your healthcare provider if your symptoms worsen or change after these examinations, tests, and procedures. They can provide further guidance based on your individual situation.

Treatment Options

The goals of treating achalasia are to relieve symptoms and improve the quality of life for patients. Here are some treatment options that can help achieve these goals:

Medication Types:

Muscle relaxant drugs: These medications, such as nitric oxide, calcium channel blockers, or sildenafil, can help relax the muscles in the esophagus. However, their effects are usually temporary and may not work well for everyone.

Therapies:

Botulinum Toxin Injection: This treatment injects botulinum toxin (Botox) into the lower esophageal sphincter (LES) to relax the muscle and reduce blockage where the esophagus meets the stomach.
Endoscopic Balloon Dilation: A balloon is inserted into the esophagus and inflated to widen the LES opening, helping to improve swallowing and ease symptoms.

Therapeutic Procedures:

Per oral endoscopic myotomy (POEM): In this minimally invasive procedure, a tube is passed through the mouth, and a small cut is made to loosen the LES muscles. POEM is highly effective in improving achalasia symptoms.
Laparoscopic Heller myotomy (LHM): This surgery cuts the LES muscles to help with swallowing and is a primary treatment option for achalasia with a high success rate.

Lifestyle Changes:

Dietary modifications: Making changes to your diet, such as eating smaller meals more frequently, avoiding foods that trigger symptoms (like spicy or fatty foods), and chewing food thoroughly can help manage symptoms.
Eating slowly and taking smaller bites: These habits can make it easier for food to pass through the esophagus.

Achalasia is a permanent condition, so treatment focuses on managing symptoms rather than curing it. The choice of treatment depends on factors like the patient’s symptoms, other health conditions, age, type of achalasia, personal preference, and the expertise of the healthcare center. It's important for individuals with achalasia to work closely with their healthcare provider to determine which treatment option is most suitable for their specific needs and circumstances.