Achalasia
Description
Achalasia is a rare disorder that affects the esophagus, the muscular tube that carries food from the mouth to the stomach. In achalasia, the muscles of the esophagus don‘t relax properly, making it difficult for food to pass through. This can lead to a variety of symptoms, including difficulty swallowing, chest pain, and weight loss. While achalasia is a chronic condition, there are a variety of treatments that can help manage the symptoms and improve quality of life.
Genes Involved
While achalasia can sometimes be inherited, the majority of cases are sporadic, meaning they are not related to genetics. However, certain genes have been linked to an increased risk of developing achalasia, including:
- MYH11: This gene provides instructions for making a protein called myosin heavy chain, which is involved in muscle contraction. Mutations in this gene can impair the function of the esophagus.
- CHRNA4: This gene provides instructions for making a protein that acts as a receptor for acetylcholine, a neurotransmitter involved in muscle contraction. Mutations in this gene can affect the electrical activity of the esophagus.
- NOS1: This gene provides instructions for making a protein called nitric oxide synthase, which is involved in relaxation of the muscles of the esophagus. Mutations in this gene can affect the ability of the esophagus to relax.
Recognizing the Signs and Symptoms
The most common symptom of achalasia is dysphagia, or difficulty swallowing. This can be a gradual process, starting with difficulty swallowing solids and eventually progressing to difficulty swallowing liquids. Other common symptoms include:
- Chest pain, often described as a burning sensation or pressure
- Regurgitation of undigested food
- Weight loss
- Feeling of fullness after eating small amounts of food
- Belching or hiccups
- Nocturnal cough
Causes
The exact cause of achalasia is unknown. However, it is thought to be caused by a combination of genetic and environmental factors. One theory suggests that achalasia is an autoimmune disorder, in which the body‘s immune system attacks the nerves in the esophagus. Another theory suggests that achalasia is caused by a virus that damages the nerves of the esophagus. It is also possible that achalasia is caused by a combination of these factors.
Inheritance/recurrence risk
Achalasia is generally not an inherited disorder. However, there is a small chance of inheriting a predisposition to the condition. If someone in your family has achalasia, it is important to speak to your doctor about your individual risk. While the exact risk of inheritance is not known, research suggests that the condition is not typically passed down from parent to child.
