It is now my pleasure to welcome Sorrel Myberg to discuss the diagnosis and management of achalasia. Sorrel is a family nurse practitioner who has been specializing in the management of esophageal disorders at Mayo Clinic, Rochester, Minnesota since 2015. He is a graduate of the Mayo School of Health Sciences and Winona State University. He holds national certification through the American Association of Nurse Practitioners as a family nurse practitioner. He is also a member of the Mayo Clinic Endoscopy Committee. His research interests include esophageal strictures and cancers of the esophagus. Previously, he specialized in care of patients after thoracic and esophageal surgeries. Sorrel, welcome. Thank you for being here today. The audience is yours. Thank you, Sarah, for the kind introduction. Over the next 20 minutes or so, I'll discuss the diagnosis and management of achalasia. I have no disclosures. So my objective today will describe the anatomy of the esophagus, review esophageal testing options, and compare the achalasia treatment options. I would like to start with an overview of the esophageal anatomy. As you can see here, this is the upper esophageal sphincter, followed by the cervical esophagus that is made up of skeletal muscle, then the upper and middle thoracic esophagus that's made up of smooth muscle. So I'd like you to think about, well, what can cause skeletal muscle conditions? That's usually something like polymyositis that can cause dysphagia. On the other hand, we think about scleroderma as the cause of smooth muscle disease causing dysphagia. When reviewing the upper endoscopy reports, you will see that the upper central incisor is often used as a landmark from where the measurements are made to describe a location in the esophagus, like the gastroesophageal junction. Moving on to the esophageal motility to odors, the majority of the talk will focus on achalasia, but just be aware that scleroderma can also affect the esophagus. That causes absent peristalsis, and really opposite from achalasia, where the sphincter is tight, scleroderma can have a wide open lower esophageal sphincter. Then there's also jackhammer esophagus, as well as diffuse esophageal spasm. Achalasia results in no peristalsis in the body of the esophagus and the failure of the lower esophageal sphincter to relax. We'll talk more about the diagnosis in the upcoming slides. Achalasia usually develops slowly over years, so if you see a patient with symptom onset only over a few months, especially those with weight loss, really think about achalasia related to a tumor. Most patients with achalasia presents to your office really with both solid and liquid dysphagia. What's helpful for me on history, there's some specific questions that I always ask my patients when I see them and I suspect achalasia. For example, I usually ask them, does the food get stuck in the beginning, mid, or towards the end of the meal? Do they sometimes have to stand up, raise their arms above their head, or even stretch out to help food go down? And oftentimes people do this. Common to describe is stacking up sensation in their chest, where they just feel like the food is sitting there and if they drink liquids on top of that, they feel it stacking up higher onto their chest. Other questions to ask, do they prefer to drink carbonation with their meal? Some patients prefer that as it stretches the esophagus and help food go down. Some patients cannot tolerate carbonation at all. Other questions to consider is if you give them a glass of water, can they really drink that down fast? In patients with achalasia, they're usually not able to do so. And then also important to ask about nocturnal symptoms. Do they wake up in the morning with food or saliva on the pillow? Ask about chest pain. Chest pain can be common in achalasia. This could be related to food fermentation in the esophagus or as a result of the motility disorder. Majority of patients with achalasia will have difficulty to belch due to the tight lower esophageal sphincter. So that's another good question to ask. Also hiccups can be common. This is likely because of the esophageal distension and irritation on the diaphragm. So I've given you some good questions that I find helpful in my practice when I try to differentiate really between achalasia and other causes of dysphagia. Moving on to testing options, this is what we have available to evaluate patients for dysphagia. They include the barium esophagram, upper endoscopy with an endoflip, and then the esophageal manometry. And I will discuss these more in the coming slides. Here's a table of the barium imaging options, just a quick overview. The barium esophagram really gives you a quick overview of the structure of the esophagus if you suspect a structural disorder. When I suspect achalasia, I prefer to order a timed barium esophagram where the radiologist can really give us a sense of the height of the barium column as well as the width of the esophagus at 1, 2, and 5 minutes. Lastly, video swallow study with the esophagram. I use this when you suspect mostly oropharyngeal dysphagia. These are usually done in combination, but can be done on their own as well. Another thought during the barium esophagram is to ask for a barium tablet. Here's an image of an esophagram. As you can see here, the barium filling up the whole esophagus, and this is really a dilated esophagus. This image was actually taken at 1 and 2 minutes, and the barium column really stayed the same. As you can see to the right, at 5 minutes, it only decreased to about 17 centimeters. Other findings from the esophagram, as I said, is a dilated esophagus with oftentimes described as typical bird's beak appearance of the esophagus at the lower esophageal sphincter. Moving on to endoscopy, the top left is an image of the lower esophageal sphincter, while the bottom is an image of the retroflex view. Some endoscopists will describe hypertonic lower esophageal sphincter, or even a popping sensation as they traverse the lower esophageal sphincter. This is really not diagnostic, but can be helpful when you look at endoscopy reports. Other findings could include food or fluid in the esophagus, as well as a dilated esophagus, but really sometimes up to 40% of endoscopies can be normal. It's important to really ask the endoscopist for a good retroflex view to rule out G-junction malignancies that can cause secondary achalasia. Also consider cross-sectional imaging in older patients, especially those with a rapid progression of their symptoms, short time frame of onset, and those who smoke and have weight loss, as lung cancer can cause this perineoplastic phenomenon that can cause secondary achalasia. Endoflip is the new kid on the block. It's done during endoscopy. It really gives us additional information about the peristalsis, as well as the distensibility index, or DI, of the lower esophageal sphincter. At my institution, we use a distensibility index of 2.8 as the cutoff for abnormal distensibility. I really don't make treatment decisions solely on the endoflip findings, but I use it really as a tool. Endoflip can be used in those patients that you cannot get esophageal manometry through the lower esophageal sphincter, or they just don't tolerate the manometry. Moving on to manometry, the picture on the left is a manometry catheter. This is basically an NG catheter with 36 pressure sensors that's spaced one centimeter apart. It's placed through either the left or the right nostril down into the esophagus across the G-junction. The patient is then given usually about saline swallows in the upright and supine position. The whole procedure takes about 10 to 12 minutes. Important to really warn your patients about the manometry prior to sending them there. I'm not sure if anybody has gone through a manometry as they are quite uncomfortable. I think the most difficult part is really trying not to swallow when you have that tube down your throat. Here's a pressure map of a normal esophageal manometry. On the top is the upper esophageal sphincter. As you can see, here's a gap between the red and the green. That's when the upper esophageal sphincter relaxes. Then you can follow the swallow down. This is a normal swallow to the bottom. In this area of light blue, that's when the lower esophageal sphincter relaxes. Again, this is a normal manometry study. As an APP, you will likely not be required to interpret these studies. Some of you might. You'll be rather given a manometry report after it's interpreted. Two main criteria here is really the absence of peristalsis and the failure of the lower esophageal sphincter to relax. This is displayed as this integrated relaxation pressure, with normal being less than 15 millimeters of mercury. Moving on to subtypes of achalasia, as you know, there's type 1, 2, and type 3 achalasia. The takeaway point that I hear is really none of these have normal peristalsis, and they also have a failure of the lower esophageal sphincter to relax. As you can see in type 1, here's the lower esophageal sphincter, the bottom green, and there's really nothing happening in the body of the esophagus, so there's no peristalsis. Type 2, again, the lower esophageal sphincter does not relax, and then you have some pan-esophageal pressurization in the body of the esophagus. type 3 is more of the spastic achalasia with a failure of the lower esophageal sphincter to relax. Moving on to treatment options, this is what's available—Botox injection, pneumatic dilation, laparoscopic myotomy with partial fundamentation, called the Heller myotomy, and a paraoral endoscopic myotomy. When you discuss treatment options with patients for achalasia, make sure to educate them that really all the treatment options we have does focus on only disrupting the lower esophageal sphincter. We do not have any treatment options to restore the peristalsis of the esophagus. Botox is an option. This is done during endoscopy, is where that needle is placed through the working channel of the endoscope. Usually about 100 units of Botox is injected, divided into four quadrants. I tell my patient it can take anywhere from two days to a week to really see effect. It's not a durable therapy. Usually the more often you do Botox, the less effective it becomes. I usually reserve this for patients that have significant comorbidities and would not tolerate any durable therapy like a myotomy. Here are some older studies looking at the efficacy of Botox. It works well anywhere from six months to 12 months when it starts to wear off. Pneumatic dilation is another option for treatment of achalasia. In my practice, I tend to reserve this as really a rescue option on those who are still having symptoms after a poem or a halomeotomy. During the pneumatic dilation, the guide wire is placed through the esophagus and the balloon is placed across the G-junction. This is inflated with air. This is different than really the standard balloon dilations that use liquid. Usually the balloon is held for about a minute at the G-junction and it basically ruptures the lower esophageal muscles. The perforation risk of pneumatic is about one to two percent depending on where you have this done. Half of which can be repaired endoscopically, but the other half will require a major surgery. The sizes of pneumatic balloon dilation start at about 30. Then you get a 35 and even a 40 millimeter balloon if needed. This is a meta-analysis looking at 29 studies, and they found that pneumatic dilation has about a 50 percent response rate. At five years, you look at 10 years, it decreases to about 25 percent. Most patients will need a second pneumatic dilation if pneumatic dilation was the primary treatment for their achalasia. Pellar myotomy with partial funnel application. This is done through usually about four laparoscopic incisions through the abdomen wall. The esophagus is exposed. The myotomy is done and extended about two to three centimeters onto the stomach. Funnel application is then performed with a surgeon specific between toupee and door. These patients usually stay in the hospital for a night or two, and they will have some diet and lifting restrictions for up to six weeks. Moving on to POM. This is done during endoscopy. First, an incision is made into the submucosal space. Then a tunnel is created down to the G-junction, and then the muscle layer is cut and divided across the G-junction again about two to three centimeters onto the stomach. Then the mucosa is clipped with about three to four clips that will just fall off with time. Patients are usually hospitalized overnight. Then they get an esophagram the next day to see if there's no leak. If that looks good, they are discharged. In our practice, we are trying to move the POM practice to be an all outpatient practice without hospitalizing patients. Here's a study that followed about 205 patients over two years, and then found that POM does work. There's about 98% clinical response in six to 12 months, 91% in about two years. It does carry a risk of reflux. Depending on what study you look at, I've seen anywhere from 40, 50, to 60% of patients that have refluxes albaginus. A practice pearl here, if you have a patient that is really absolutely against taking any sort of proton pump inhibitors, then POM is likely not a good option for them. So, it's important to have that discussion prior to making treatment decisions. In my practice, I've been able to heal refluxes albaginus with PPI alone. I've not yet to send a patient for a fundamental application after a POM, but it's certainly an option to consider if you have persistent esophagitis despite medical and lifestyle therapy. There's an image on the left in the esophagram before the POM, and on the right is post-POM day one. This is usually done in the hospital. You can see the barium now emptying the esophagus. This is a multicenter randomized controlled trial over six centers in Europe and Asia and the United States. They define treatment success as an Eckhart score of less than three. They followed these patients for two years, randomized to POM and pneumatic dilation, and found that POM is more effective two years, but when compared to pneumatic dilation, there was more refluxes albaginus. This is a randomized controlled trial looking at 221 patients. They were randomized to POM and laparoscopic myotomy, in this case, a door fundamental application, followed for two years, and they found that POM is really as effective as laparoscopic myotomy, but more esophagitis was seen after POM when compared to laparoscopic myotomy. When we look across the subtypes of achalasia, this meta-analysis showed that laparoscopic myotomy and POM could be a good choice for type 1 and type 2 achalasia. Where POM is preferred in the setting of type 3 achalasia, as the myotomy incision can be made higher into the esophagus as compared to laparoscopic myotomy, the assertions really can't get in that high. In regards to follow-up, it's important to stress the importance to your patients to say, well, we really got to make sure we don't just treat you, but you have to come back. What I see in my practice, patients now have a POM or a heller myotomy, then they can—they can swallow better, and they don't follow up. There's no evaluation for reflux, and slowly over time, they adapt how they eat, and they get into more trouble with dysphagia that's more difficult to treat. I usually do a clinical assessment with the Ickert score at three months, ask about reflux symptoms. Most of them will not have a sensation of reflux, and this is like a part of the achalasia, a pattern where they—if they lose the squeeze, they will also lose the sensation. So, majority of patients will deny any reflux symptoms. Then I would get another time-varying esophagram. We'll do another EGT with an endoflip, really get a sense of that distensibility index, and then we place a Bravo if there's no reflux esophagitis, and that stays in for about two days to really get a good sense about how much reflux are these patients having. Do we need to commit them to long-term PPI? After that, I usually bring patients back yearly with some Ickert scores, and then you can alternate with barium esophagram and an endoscopy after that. I prefer that—I always tell my patients that I—that they don't, you know, everybody—somebody should look at their esophagus or do some sort of imaging at least every two years or so, not go not go five years. So, you've seen this patient in the clinic. He's a 62-year-old male with two years of dysphagia. Heartburn was the initial symptoms, and that's sometimes how achalasia starts. They will have that heartburn. Now, he has progressive dysphagia to solids and liquids. He describes food sticking daily, also has the sensation of food stacking up in his esophagus. He really has to stand up and stretch out during his meals. He can feel things going down if he does that. He has intermittent chest pain that he has randomly. He takes a sip of liquids or water, and then that goes away, and he's been regurgitating some frothy saliva and food or even find that in the morning when he wakes up on his pillow. So, you send him for testing. He's now back in your office to—to review. So, typical things that we look for in esophagram, as discussed a little bit earlier, you'll find oftentimes a dilated esophagus with some tapering at the G-junction, often called this bird's beak appearance. Then, looking at the time, barium esophagram at one and two minutes, it was about 21 centimeters of barium, and at five minutes, about 17. So, really not much difference there in the barium column. The radiologist diagnoses achalasia. Then, you had him go through manometry. There's some nice measurements of the location of the lower esophageal sphincter and how—what's the length of it. Also shows abnormal relaxation with an IRP of 19.1, normal is less than 15, and 100% of failed swallows, and there's some pan-esophageal pressurization, making this a type II achalasia, if you look at this—at the Chicago classification. Then, you had him undergo an endoscopy. The endoscopist described that the lumen of the esophagus was moderately dilated. There was even some food found in the esophagus, and then they described this hypertensive lower esophageal sphincter. There was resistance to endoscope advancements. Sometimes, they call it a popping sensation, and important to have a good look at the G-junction and cardia, a good retroflux view to rule out malignancy. And on the bottom there, there's the distensibility index of 1.3 and 1.1 at those measurements. This is abnormal. 2.8 or lower is a decreased distensibility. And that is all I have. Thank you for your attention.

Sorrel Myberg

family nurse practitioner

achalasia

esophagus anatomy

diagnostic tests

treatment options