ME can be “idiopathic” (cause unknown), or can be related to a variety of other diseases/disorders. There are a battery of tests that may be required before ME can be fully diagnosed, and a treatment/management profile developed.
The most common group of test advised are accompanied by a asteriskS (***) below: (as with any complicated disease, additional testing may be required):
*** A complete blood count (CBC) is most often within normal limits; however, with severe inflammation or infection or anemia associated with chronic (long-term) illness, one may expect to see an elevation in the white blood cell count, or decrease in the red blood cell count, respectively.
*** A biochemical profile is needed to rule out other systemic disorders that may predispose to certain esophageal diseases.
*** A urinalysis is part of any complete baseline work-up. (ME, itself, does not cause abnormalities in the urine, however, some of the diseases that can be RELATED to it can result in kidney or bladder issues).
*** Testing for auto-immune (self-allergy) diseases: Antinuclear antibody and Myasthenia Gravis (MG) titers (aCH RECEPTOR TITER). MG, especially, is frequently accompanied by ME.
*** An ACTH stimulation test (for Addison’s disease), or, at least a baseline cortisol screening test.
*** Thyroid function tests (NOT just a T4 screening test, but, a complete panel)
*** Three chest X-rays are needed to evaluate the size and shape of the esophagus, assess for the presence of a foreign object or growth, evaluate the heart size, and assess the lungs for the possibility of secondary pneumonia.
*** An Esophagram, or barium swallow, is helpful in evaluating the esophageal mucosa (lining), detecting the presence of a stricture (narrowing) or dilation. This test can be performed in most hospitals and is a fairly low risk procedure for the patient.
The following tests are usually not required/advised, but, may be necessary for full diagnosis:
• Lead level (usually only suggested if real risk of exposure), electromyography (rarely advised), or muscle biopsies (usually advised only if a myopathy or neuropathy which cannot be diagnosed via blood tests is suspected) may be recommended.
• Dynamic contrast fluoroscopy, a type of radiographic evaluation, helps assess the function of the esophagus, evaluating movement of solids and liquids through the esophagus. Because of the type of instrumentation involved, it is often necessary to have the patient seen at a referral facility. While this procedure is not necessary in all cases, it can be invaluable in others.
• Esophagoscopy is a procedure that allows visual inspection of the esophagus. In some cases, it may be the most useful tool in diagnosing certain esophageal diseases, in particular, foreign bodies, strictures, and esophagitis. One must be cautious, as this procedure necessitates general anesthesia. It is recommended that a specialist or an individual with some experience with endoscopy performs this procedure.
Here is a list of disorders found to be a cause of megaesophagus:
Neuromuscular: idiopathic, polyneuropathy, polymyopathy, dysautonomia, myasthenia gravis, botulism, distemper, tetanus, dermatomyositis (Collies), brain stem disease (trauma, neoplasia, accident), esophagitis, gastroesophageal reflux.
Obstructive: Neoplasia (carcinoma, Spirocerca sarcoma, leiomyoma of LES, extraesophageal tumor), vascular ring anomaly, extra-esophageal compression, stricture, granuloma, foreign body, achalasia of LES, gastroesophageal intussusception, systemic lupus erythematosus.
Toxic: lead, thallium, anticholinesterase, caustic ingestion (esophageal damage).
Miscellaneous: Addison’s disease, thymoma, mediastinitis.