Achalasia

From WikiGenetics

1 Definition
2 Description, Signs and Symptoms
3 Inheritance
4 Diagnosis
5 Treatment and Management
6 Prognosis
7 Resources
8 References

[edit] Definition

Achalasia is a rare disease of the smooth muscle layer of the esophagus, causing impaired peristalsis (wave-like muscular movement of food down the esophagus), and the inability of the lower esophageal sphincter (a ring of muscle lying between the lower esophagus and the stomach) to relax and open. This relaxation is needed in order to allow food to pass into the stomach. As a result, patients this condition have difficulty swallowing food.

[edit] Description, Signs and Symptoms

The most common symptoms of achalasia is difficulty in swallowing food. Other signs include a heavy feeling or pain in chest after eating, regurgitation of food that is trapped in the esophagus, and weight loss associated with the problems in swallowing food.

Serious complications with achalasia include: aspiration pneumonia, esophagitis (inflammation of the esophagus), and esophageal ulcers.

[edit] Inheritance

While the cause of achalasia remains unknown, there are theories of the condition arising from infection, heredity, or complications with the immune system.

[edit] Diagnosis

Diagnosis is often made based on history of symptoms. Tests used to diagnose this condition include: X-ray studies called video-esophagram, esophageal manometry which uses a thin tube to measure the pressure generated by the esophageal muscle, and endoscopy.

[edit] Treatment and Management

Various treatments for achalasia include oral medications to help relax the lower esophageal sphincter, forceful dilation or stretching of the lower esophageal sphincter, esophagomyotomy which is the surgical procedure to cut the sphincter, or an injection of botulinum toxin to weaken the lower sphincter.

[edit] Prognosis

Individuals with achalasia have an increased risk of esophageal cancer, so it is recommended that patients get regular endoscopic screenings for early detection of this cancer. The current treatments are typically effective.