Name:
A 23-Year-Old with Dysphagia
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A 23-Year-Old with Dysphagia
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T00H08M44S
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Upload Date:
2022-02-28T00:00:00.0000000
Transcript:
Language: EN.
Segment:0 .
♪ (music) ♪
CATHY: Hi. Welcome to Harrison's Podclass where we discuss important concepts in internal medicine. I'm Cathy Handy.
CHARLIE: And I'm Charlie Wiener
CHARLIE: and we're coming to you from the Johns Hopkins School of Medicine. ♪ (music) ♪
CATHY: Welcome to Episode 32: A 23-Year-Old with Dysphagia.
CHARLIE: The question reads: a 23-year-old man presents with six months of worsening dysphagia and postprandial regurgitation. He reports difficulty and pain with swallowing both liquids and solids. He has no difficulty with the initial components of swallowing but reports pain in the mid-chest region. He'll frequently regurgitate undigested food 20 to 60 minutes after eating or drinking. In the past two months, he's lost 15 pounds. He had one episode of presumed pneumonia approximately four months ago that showed a right lower lobe infiltrate on chest X-ray.
CHARLIE: He has no significant past medical history, takes no medications, does not smoke cigarette, and does not use alcohol. He works as a service representative at an electronic store in Smaltimore and has never left the United States. Other than the signs of recent weight loss, his physical examination is unremarkable. So, Cathy, any preliminary thoughts?
CATHY: Well, so far it sounds like an esophageal motility disorder. We hear about dysphagia, chest pain and heartburn, and it's clearly significant with the weight loss and pneumonia which I'm presuming, based on the location of his pneumonia, was related to an aspiration event. There are a few different causes of motility disorders that come to mind, and most commonly you'd think of GERD or reflux disease, esophageal spasm, or achalasia as being the most common and can occur in isolation. You can also see these symptoms that were systemic diseases, like scleroderma, although we don't hear about any other clinical manifestations or a previous history of scleroderma.
CATHY: And then other rare diseases to mention which I haven't seen here in the US, but Chagas disease always comes up. If you told me that he used to live in South America, I would consider this diagnosis, but given we didn't hear about that, I think this is unlikely.
CHARLIE: Are you worried about esophageal cancer in this patient with these symptoms?
CATHY: So, patients with esophageal cancer can get pseudoachalasia, which presents similarly. But, in this case, the patient's young and doesn't have any risk factors, so I would be less worried about that.
CHARLIE: What's the next step in diagnosis?
CATHY: I'd start with the barium swallow test to help distinguish between the entities that I mentioned before.
CHARLIE: Okay, so the patient had a barium swallow, and we're looking at the images. Cathy, can you describe what you're seeing here in this barium swallow?
CATHY: All right, so this swallow study, you see bright white, which is the barium, and the rest of the lung and thorax is dark. And you see one tube-shaped structure that's filled with barium-- that's the esophagus, and it's quite dilated, and it ends in a point with a tiny string leading into the stomach. The narrowing that you see here is at the lower esophageal stricture or the GE junction. And this reminds me of what is classically referred to as a "bird's beak" appearance on this type of image.
CHARLIE: So, based on that, what is your diagnosis?
CATHY: So, based on this, I'd say the diagnosis is achalasia, and that's where you have the lower esophageal sphincter that doesn't relax, so you get minimal contrast; or from the patient's perspective, minimal food or drink through the sphincter, and there's no peristalsis of the esophagus. The barium swallow test, like we did, is a diagnostic test that you use, and you use the barium because it's easy to see on X-ray imaging, and what you see is aperistalsis, esophageal dilation and then minimal to no opening of the lower esophageal sphincter and that "bird beak" appearance which is a classic buzzword.
CHARLIE: Okay, so the question's going to ask about mechanisms of disease. So the question says: which of the following is the most likely cause of his disease? Option A is autoimmune reaction to latent herpes virus; option B is diffuse spasm of smooth muscle; option C is infection by Trypanosoma cruzi; option D is malignant growth of columnar epithelial cells; and option E is malignant growth of squamous epithelial cells.
CATHY: So, this is a two-part question because first you need to know what disease we're talking about, and based on that history, physical and imaging, I'm going with achalasia, like I mentioned before. So, now we need to talk about the pathophysiology, and this is an area of active research, so the answer to this question may change in the future. But what we know now is that, functionally, inhibitory neurons mediate the deglutitive lower esophageal sphincter relaxation, and also the sequential propagation of peristalsis.
CATHY: When you have someone with achalasia, these are absent, and this leads to impaired sphincter relaxation and absent peristalsis. There is increasing evidence suggesting that the ultimate cause of ganglion cell degeneration is an autoimmune process that's attributable to a latent infection with human herpes simplex virus 1 combined with genetic susceptibility.
CHARLIE: Interesting, so we're now thinking that achalasia may be a post-infectious autoimmune phenomenon. That's interesting. What do you think about the other answers?
CATHY: Well, diffuse spasm is unlikely, based on the imaging. The barium swallow showed only a single lesion. And as I mentioned, Chagas disease is uncommon in the US, but it's endemic in areas of central Brazil, Venezuela, and northern Argentina, and it's spread by the bite of the kissing bug, and that transmits the protozoan Trypanosoma cruzi. So that was option C, so I wouldn't pick that. Plus, the chronic phase of the disease develops many years after infection, and it does result from destruction of the autonomic ganglion cells throughout the body.
CATHY: And you can see that in the gut but also in the heart, the urinary tract, and the respiratory tract. But like I mentioned before, this isn't Chagas disease, so I would exclude that answer. And then there's no evidence of malignancy and no mass that seems to be causing his symptoms, so I would also exclude any malignant growth.
CHARLIE: Okay, so this is actually a two-part question, and the second part of the question says: which of the following is the most efficacious therapy? Option A is botulinum toxin; option B is calcium channel blocker therapy; option C is esophagectomy; option D is nitroglycerin; and option E is radiation therapy.
CATHY: Well, none of these actually address the underlying cause of the disease, but rather focus on fixing the symptoms. And all of them, except for radiation, are sometimes used in the management of achalasia. At this stage that this patient presented with there's no cure and the peristalsis is unlikely to recover, so the goal of treatment is really to decrease the pressure of the lower esophageal sphincter. And this can be done with pharmacologic therapy, pneumatic balloon dilation, or a surgical myotomy.
CATHY: No large control trials of therapeutic alternatives exist and the optimal approach is debated. But those who are the most fit should probably get a procedure. Now, of the choices mentioned, we see esophagectomy, and that is not a preferred procedure, so we can exclude that. The preferred procedures would be the pneumatic dilation or the surgical myotomy. So, those would be the first-line treatments. And patients who aren't fit for either of those, next, you'd do injection of botulinum toxin into the lower esophageal sphincter to relax it.
CATHY: So, of the choices mentioned, that's the most efficacious and the answer to this question.
CHARLIE: How does Botox work?
CATHY: So, it inhibits acetylcholine release from the nerve endings, and it improves dysphagia in about two-thirds of cases, and this typically lasts for at least six months.
CHARLIE: So, botulinum toxin, option A, is the answer to this question, but is there any role in these patients with achalasia for calcium channel blocker therapy or nitroglycerin?
CATHY: Pharmacologic therapies are pretty ineffective but can be used as temporizing therapies. So, the two that you mentioned can be administered before eating, but you obviously have to watch their effects on blood pressure, especially in otherwise normotensive patients.
CHARLIE: And in this case where the patient really showed no peristalsis on his barium swallow, I suspect they probably wouldn't work, right?
CATHY: Yes, and we also heard that this patient was young and otherwise fit so probably a procedure would be the best first choice for him.
CHARLIE: Okay, so the teaching point of these two questions is that the main symptoms of achalasia are dysphagia, regurgitation, chest pain, and weight loss. Achalasia can be diagnosed with the barium swallow showing the classic "bird's beak" appearance. The etiology is now thought to be an autoimmune reaction to latent herpes virus infection, and treatment revolves around alleviating the high pressure of the lower esophageal sphincter at the GE junction, either with a procedure or with injection of botulinum toxin.
CATHY: And to read more about this, you can check out Harrison's chapter of Diseases of the Esophagus and Disorders of the Gastrointestinal System. You can also read more from the American College of Gastroenterology. They have a 2013 guideline on the Diagnosis and Management of Achalasia. ♪ (music) ♪