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Achalasia //
Why do I have achalasia?
Achalasia is a rare disease affecting on average 1 in 100,00 persons.
Individuals with achalasia can present with a variety of symptoms which are very similar to reflux symptoms:
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Heartburn
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Regurgitation
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Difficulty swallowing
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Excess saliva
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Chest pain
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Early Satiety
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Belching
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Nausea
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Shortness of Breath
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Recurrent Pneumonia
The most common reason to have achalasia is due to a combination of mechanical issues affecting your esophagus including abnormal motor function of a major segment of your esophagus and the gastroesophageal valve at the bottom of the esophagus not opening. Therefore, this combination makes swallowing food very difficult and people with achalasia can have problems with swallowing food (especially solids). The progression of disease can be very slow and most patients we see with achalasia are misdiagnosed as reflux and have been on reflux medication for years. Although achalasia requires some type of procedural intervention to improve symptoms there are lifestyle and nutrition modifications that can help.
Causes of Achalasia
Patients with achalasia have no clear trigger event that led to the development of the disorder. Therefore, the origin of the disease is most patients is unknown. The disease leads to degeneration of a group of nerves located along the esophagus (the Auerback plexus). Another uncommon cause of achalasia is Chagas disease which is caused by a parasite found in South America: Trypanosoma Cruzi which is spread by a kissing bug.
Types of Achalasia
There are patients that do not have classic reflux that can be difficult to treat. After appropriate testing the major groups for these patients are Type I, II and III achalasia. Diagnosis is typically made by High Resolution Manometry.
Type II Achalasia:
This is the most common subtype of achalasia and is the most amenable to treatment. Most patients in this group with not have normal esophageal motor function but pressurization and a hypertensive lower valve.
Type I Achalasia:
Unlike Type II these patients have limited motor function along the length of their esophagus and a hypertensive lower valve. As a result of this even after intervention these patients may still have some difficulty swallowing but should be improved when compared to prior to surgery.
Type III Achalasia:
This group of patients although rare typically presents with chest pain and their esophageal muscle contractions can be very strong. This group continue to have a hypertensive lower valve.
This figure shows representative imaged of these subtypes on manometry.
Diagnostic Testing
Symptoms alone are insufficient to make the diagnosis of Achalasia. Most patients will need objective comprehensive diagnostic testing to pinpoint the cause of symptoms. Typically, patient will require at least the following tests to help establish the diagnosis and severity of disease.
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Esophagogastroduodenoscopy (EGD):
The EGD is the most common test for the initial evaluation of achalasia. Most gastroenterologist and clinicians with expertise in this disease can perform this test which is usually done in an Endoscopy Suite and takes a short period of time. Most patients will get some sedation to make them comfortable. Routine biopsies are recommended to determine if there are abnormalities in the esophagus concerning for Esophagitis or other causes. Clinicians can also evaluate for Barrett's or other changes that may alter management.
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Barium Swallow:
This is an X-ray exam where the radiologist will have you swallow liquids, and solids and shoot live images of your swallow to evaluate for anatomic defects in the esophagus and look for signs of reflux, hernia, and masses pressing on the esophagus. This test can also assess for treatment planning as it may influence the type of repair.
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Manometry:
This test will determine what the pressures are along your esophagus during swallows. It will detect abnormalities in pressure waves and also function of your valves that may further explain the reason for your symptoms.
If the 3 prior tests are negative and the clinician does not make the diagnosis you may have reflux. Therefore, patients undergo reflux testing off medications for 96hours. This test is very good for acid reflux but will fail to assess bile or non-acid reflux. In these scenarios impedance testing using a catheter placed in your nose for 24 hours is used. This test is more uncomfortable and is used only in scenarios where acid testing is inconclusive.