Sean Lopez40 said:AHALAZIJA (achalasia) involves a disorder of esophageal peristalsis and the relaxation of the lower esophageal sphincter, caused by a lack of ganglia in the Auerbach plexus. Symptoms include dysphagia—difficulty swallowing both solid and liquid foods—chest pain, and regurgitation. Treatment options like nitrates and hydralazine can help manage symptoms, while a complete fix usually requires either cardiomyotomy or balloon dilation of the esophagus.
This condition affects about 1 in 1,000,000 people annually. Because many aren't familiar with it, they often misattribute it to eating disorders like bulimia or anorexia. It’s relatively straightforward to diagnose via an esophageal X-ray (once food gets stuck) or a gastroscopy. Essentially, the esophagus develops spasms that tighten rather than relax, trapping food so it can't move up or down.
You’re born with this condition, so there’s no controlling its onset. Typically, the inability to swallow dry or hard foods develops gradually; in my case, it was triggered by sunstroke.
It impacts the entire gastrointestinal tract, which can lead to secondary issues in the stomach (like gastritis or ulcers) and the intestines.
Medications used include nitrates (ISMN), taken sublingually before meals. Balloon dilation (stretching the esophagus) isn't always effective and the process can take up to two years. Cardiomyotomy is an invasive procedure that really needs to be performed by a specialist, as it carries a risk of gastroesophageal reflux—where everything meant for the stomach ends up coming back up involuntarily.
A few years ago, I was at a breaking point because doctors struggled to diagnose me given how rare the disease is. After eight months, I finally saw Dr. Opačić at Mount Sinai, and he was able to identify it. I'm so grateful to him!
Fortunately, my situation isn't too severe, and I've learned how to manage it. Some days are harder than others. I have to be very mindful of every bite, regardless of any medication. I haven't had surgery or dilation; I've simply learned how to live with it.
Amy Ross5 said:Hi, I tried to snap a photo but I keep getting an upload error, probably because the file size is too big. If I shrink the image, it becomes unreadable, so I'll just transcribe it here...
May 02, 2011 Medical History
For the last year and a half, they've had epigastric pain, dysphagia with liquids, and now even with solids, accompanied by regurgitation. Because of this, they were seen this past April by Dr. Rotkvić, who diagnosed AHALAZIJA based on endoscopic and radiological exams.
The clinical presentation and those tests point directly to that condition.
IMPRESSION
Prior to cardiac dilation, please perform esophageal manometry and a barium swallow at the Holy Spirit medical center under prof. Jurčić
September 05, 2011
HISTORY
Patient presents with manometry results that are non-specific: hypotensive lower esophageal sphincter and predominantly ineffective peristaltic activity.
RECOMMENDATIONS
Given these findings (X-ray, EGD, and esophageal manometry) along with the persistent dysphagia, I recommend hospitalization for further testing and a decision regarding cardiac dilation.
September 05, 2011
DIAGNOSIS
They were admitted to our facility on September 15, 2011, where we performed cardiac dilation using a non-expansive balloon—yet despite this, the dysphagia persists.
IMPRESSION
Please order an esophageal X-ray and a contrast swallow study; after reviewing the results, we will decide whether to repeat the procedure.
January 16, 2012
HISTORY
Presenting with swallowing study and esophagram results from December 23, 2011 showing a widened esophageal lumen and hypotonia; emptying is difficult through the distal segment, which has normal width and regular mucosal fold contours.
Manometry findings from May 2011: hypotensive lower esophageal sphincter and ineffective peristaltic activity.
Cardiac dilation was performed at our facility on September 15, 2011 (the radiologist's conclusion was AHALAZIJA). We suggested starting Controloc.
IMPRESSION
Considering the X-ray findings, the inconclusive manometry, and the poor response to cardiac dilation, we suggest using prokinetics (cisapride, domperidone, metoclopramide). Since we carry Reglan, we suggest attempting to improve peristalsis with metoclopramide (Reglan) 3x daily. Follow-up in 1 month.
February 27, 2012
History
Reglan isn't working, nor has there been any improvement. We recommend a soft food diet with more frequent, smaller meals. In case of heartburn, take Controloc 40 mg as needed.
We recommend an endoscopic follow-up in 18 months. However, if symptoms persist (dysphagia, increased heartburn), come in sooner.
casualwalker18 said:I spent two years dealing with some pretty brutal dysphagia, basically living off a feeding tube... but thanks to a speech therapist over at the Mayo Clinic, I’m finally back to eating on my own again
Does anyone know how much an esophageal manometry costs here in the States?