What is the diagnosis of Achalasia, Familial Esophageal?

March 29 01:36 2019 Print This Article

The symptoms are similar and this condition is mistaken for the other conditions like GERD which stands for gastro esophageal reflux disease and psychosomatic disorder. This may also be similar to the hiatus hernia. The barium swallow x ray studies and esophageal manometry helps in the diagnosis of this condition.

The other diagnostic tests are the endoscopy of esophagus, stomach and duodenum. These are referred as EGD. The endoscopic ultrasound is done to rule out the cancer possibility. The endoscopy shows the internal tissue of esophagus to be normal. In some case a pop may be seen as the endoscopy is done in the non relaxing LES segment which contains the food debris.

In the barium swallow technique the patient swallows the barium and does the x ray recording which is known as the fluoroscopy. It helps to observe the flow of liquid in the esophagus. There is no normal peristaltic movement of the esophagus and an acute tapering is seen at the LES segment. There is a constriction at the gastro esophageal junction which gives rise to bird’s beak and rat tails appearance. The esophagus is dilated at the various degrees as it is stretched. The air fluid margin is observed in the barium column as there is no peristalsis. The effectiveness of the treatment is measured by the 5 minute timed barium swallow.

The key test for establishing the diagnosis of this disorder is esophageal manometry. This is possible due to its sensitivity. In a nose a thin tube is put and the patient is told to swallow many times. The muscle contractions are measured with the help of probe during swallowing in the different parts of esophagus. The manometry reveals a failure of LES to relax with the swallowing and the smooth muscle esophagus shows no functional peristalsis. In this condition biopsy is not as helpful as it removes the tissue samples. It may show hypertrophied muscles and no nerve cells are seen in the myenteric plexus which consists of nerve fibers which control the peristalsis of esophagus.

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