Esophageal Motility Disorders

In this episode of AudioBoards, we dive into esophageal motility disorders, including achalasia, hypotonic, and hypertonic conditions. We cover what causes these issues, how they’re diagnosed, and the treatments available, from medication to surgery. 

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Transcript

Welcome back to another episode of AudioBoards! Today, we’re diving into esophageal motility disorders—conditions that can lead to dysphagia or chest pain. First, let’s talk about achalasia.

Achalasia is an idiopathic motility disorder that causes a loss of peristalsis in the distal esophagus and impairs the relaxation of the lower esophageal sphincter. The underlying issue here is a denervation of the esophagus, primarily due to the loss of nitric oxide-producing inhibitory neurons in the myenteric plexus. While we don’t fully understand the exact cause of this neuronal degeneration, it disrupts the normal smooth muscle function of the esophagus, leading to significant swallowing difficulties.

Achalasia is more common in older adults, but it can present in younger individuals as well—sometimes as early as 25 years old. It often begins with gradual dysphagia, starting with solids and eventually extending to liquids. And this is not something that improves on its own; symptoms can persist for months, or even years, before a proper diagnosis is made. Patients may also experience substernal discomfort or a feeling of fullness after meals, and they may regurgitate undigested food—either right after eating or hours later. Nocturnal regurgitation can even lead to coughing or aspiration, which can severely impact sleep and overall quality of life. Weight loss is also common.

Now, let’s talk about diagnostic tests. The process usually starts with a chest X-ray, which may reveal an air-fluid level in a dilated, fluid-filled esophagus. The next step is typically barium esophagography, which reveals esophageal dilation, loss of peristalsis, and the characteristic smooth, symmetric “bird’s beak” appearance at the distal esophagus. If left untreated, this dilation can progress into a sigmoid esophagus. After that, an endoscopy is performed to rule out other potential causes, such as esophageal cancer or strictures. However, the gold standard for diagnosing achalasia is high-resolution esophageal manometry, which shows absent peristalsis and impaired L.E.S relaxation after swallowing.

There are three subtypes of achalasia, based on pressure patterns and esophageal contractility:

Type I: Complete absence of peristalsis.

Type II: Same as Type I but with some intermittent contraction waves.

Type III: Failed peristalsis with premature spastic contractions in the distal esophagus.

There are other conditions that can mimic its symptoms. For example, Chagas disease, which is common in Central and South America, should be considered, especially in patients from endemic regions. Pseudoachalasia is another possibility, where tumors—either primary or metastatic—invade the gastroesophageal junction, leading to symptoms that resemble achalasia. Other conditions like amyloidosis and sarcoidosis can also contribute to this clinical picture. If there’s any suspicion of these conditions, further imaging, such as endoscopic ultrasonography or chest CT, may be required.

So, what can be done for someone with achalasia? The goal of treatment is to relax the L.E.S and improve the esophagus's ability to push food through to the stomach. Let’s explore the options:

Botulinum toxin injections: This is a non-invasive option where the toxin is injected into the L.E.S to reduce its pressure. While this can provide relief, it’s usually a short-term solution and works best for patients who aren’t candidates for more invasive procedures due to comorbidities or other health concerns.

Medical therapy: Medications like calcium channel blockers or long-acting nitrates can help reduce L.E.S pressure.

Pneumatic dilation: This involves using a balloon to stretch and widen the L.E.S. It tends to be less effective in patients under 45 years old, those with Type III achalasia, or those whose esophagus is already significantly dilated.

Heller’s myotomy: This is a surgical procedure where the L.E.S and the upper part of the stomach are cut to relieve pressure. It’s usually done laparoscopically, meaning smaller incisions and faster recovery times. However, because gastroesophageal reflux can develop after surgery, patients often also undergo a fundoplication procedure to prevent reflux. They’re typically prescribed a daily proton pump inhibitor (PPI) to help manage acid.

Peroral Endoscopic Myotomy (POEM): This minimally invasive option uses an endoscope to cut the L.E.S muscle fibers. It's especially useful for patients with Type III achalasia, where a longer myotomy is needed. One downside- Because fundoplication isn’t performed, patients often need long-term PPI therapy to manage GERD.

In rare cases, achalasia can become refractory. This is when megaesophagus occurs—where the esophagus becomes massively dilated, severely affecting nutrition and quality of life. In such cases, esophagectomy or a percutaneous gastrostomy may be necessary. This stage of the disease can be life-threatening due to the increased risk of aspiration pneumonia.

Let’s now move on to other hypotonic disorders, which are characterized by a lack of contractility and incomplete peristalsis. Patients often experience GERD symptoms due to decreased L.E.S pressure or dysphagia from incomplete peristalsis. In most cases, the cause of hypotonic esophageal disease is unknown. However, secondary causes include smooth-muscle relaxants, anticholinergic agents, estrogen, progesterone, connective tissue disorders for example systemic sclerosis, and pregnancy.

Esophageal manometry typically shows weak, non-peristaltic contractions in the distal esophagus. Treatment includes lifestyle changes—such as eating upright and consuming liquids or semi solids instead of solids. Medical therapy often includes acid-reducing agents for GERD and low-dose antidepressants to reduce chest discomfort.

Finally, let’s discuss hypertonic motility disorders, which include Diffuse Esophageal Spasm and Jackhammer Esophagus. These disorders also present with chest pain or dysphagia.

Diffuse esophageal spasm is characterized by premature contractions, and esophagography may show a “corkscrew” or “rosary bead” appearance.

Jackhammer esophagus occurs when there are high-vigor peristaltic contractions.

Symptoms of both conditions often respond to nitroglycerin. If GERD symptoms are present, a PPI should be used. For patients without GERD symptoms, medical therapy with antidepressants or a phosphodiesterase inhibitor can help relieve chest pain. Dysphagia may respond to calcium channel blockers, and botulinum toxin injections have been shown to alleviate dysphagia symptoms.

That’s all for today’s episode. Thanks for listening to AudioBoards. Stay tuned for more educational content in our next episode! The views and opinions expressed on the AudioBoards Podcast do not necessarily reflect those of our employers. This podcast is for educational purposes only and should not be used to diagnose or treat any medical conditions. It is not a substitute for professional medical advice. Always consult a qualified, board-certified healthcare provider for any medical concerns.