Achalasia
Information on the causes, symptoms, and most effective treatment for esophageal muscle contraction that hinders swallowing.
Symptoms and causes
Achalasia is a chronic disorder affecting the functioning of the esophageal muscles, which fail to relax properly. When the muscles remain contracted, the passage of food to the stomach is hindered. As a result, part of the food accumulates in the esophagus and, when it ferments, may return to the mouth causing a bitter taste.
This condition combines a failure of the nerve responsible for esophageal propulsion and difficulty in opening of the lower esophageal sphincter that connects the esophagus to the stomach. Unlike gastroesophageal reflux, food does not enter the stomach.
The most common form is esophageal achalasia, although occasionally cricopharyngeal achalasia occurs, affecting the sphincter between the pharynx and esophagus.
There are three distinct types of achalasia depending on their characteristics:
- Type 1 or classic achalasia: the esophagus is dilated and produces no peristaltic waves.
- Type 2 or achalasia with esophageal compression: pressure in the esophageal walls increases during swallowing, causing food retention.
- Type 3 or spastic achalasia: esophageal muscles produce spasms, making swallowing difficult and causing pain.
Achalasia is a rare disease without a cure, as muscle damage cannot be reversed. Treatment is therefore essential to improve patients’ quality of life and prevent serious complications. When patients follow specialist guidance, life expectancy is not reduced.
Symptoms
Achalasia symptoms vary depending on the disease stage:
- Early symptoms: develop progressively and intensify as the disease progresses
- Dysphagia: difficulty swallowing
- Feeling that food gets stuck
- Regurgitation
- Heartburn
- Chest pain
- Increased belching
- Late symptoms: appear in severe stages
- Weight loss
- Enlargement of the esophagus (megaesophagus)
- Chronic cough
Causes
The exact causes of achalasia are unknown, although several contributing factors have been identified:
- Nervous system disorders: malfunction of the myenteric plexus or vagus nerve, which control esophageal movement
- Autoimmune disorders: the body’s immune system attacks esophageal nerve cells by mistake
- Genetic predisposition: although no specific genes have been identified, a familial pattern has been observed in some patients
Risk Factors
Risk factors for achalasia include:
- Age: usually manifests from age 25; rare after 60
- Allergic diseases
- Adrenal insufficiency: inadequate cortisol production
- Allgrove syndrome: autosomal recessive disorder causing neurological abnormalities
- Chagas disease: inflammatory disease caused by Trypanosoma cruzi, which can damage the esophagus
- Family history
Complications
Common complications of achalasia include:
- Aspiration pneumonia: regurgitated food may enter the lungs, causing infection
- Malnutrition: due to insufficient nutrient intake
- Esophagitis: inflammation caused by the continuous presence of food in the esophagus
- Esophageal ulcers: caused by the acidic component of retained food
- Esophageal cancer: may result from chronic inflammation and food accumulation
Prevention
Achalasia cannot be prevented.
Which Doctor Treats Achalasia?
Achalasia is usually diagnosed by digestive system specialists. Treatment often involves General and digestive system surgery.
Diagnosis
Diagnostic procedures for achalasia include:
- Medical history (Anamnesis): detailed review of the patient’s medical and family history, and symptoms
- Esophageal manometry: assesses esophageal motility and lower esophageal sphincter relaxation
- Barium X-ray: a barium-containing substance is ingested, outlining the esophagus and stomach on images to detect abnormalities or obstructions
- Gastroscopy: visualizes the upper digestive tract to rule out other conditions
Treatment
Achalasia treatment focuses on symptom relief and quality of life. Depending on severity and disease stage, several approaches are used:
- Medication: effective in early stages
- Lower esophageal sphincter relaxants to facilitate food passage
- Esophageal motility stimulants to enhance muscle movement
- Proton pump inhibitors to reduce acidity
- Botulinum toxin injections: relax the sphincter to allow food to pass more easily; effects are temporary and require periodic repetition
- Esophageal dilation: a flexible tube with a balloon is inserted orally and inflated in the lower esophagus to widen the sphincter; may need repeated procedures
- Peroral endoscopic myotomy (POEM): a small incision is made in the lower esophageal sphincter to facilitate food passage via a tube inserted through the mouth
- Heller myotomy: two or three small incisions are made to introduce instruments to partially cut the sphincter and wrap part of the stomach around the esophagus (fundoplication) to prevent reflux
