Achalasia, familial esophageal

Familial Esophageal Achalasia
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Dysphagia, regurgitation, chest pain, weight loss
Complications	Esophageal cancer, aspiration pneumonia
Onset	Typically in adulthood
Duration	Long-term
Types	N/A
Causes	Genetic mutations
Risks	N/A
Diagnosis	Esophageal manometry, barium swallow, endoscopy
Differential diagnosis	N/A
Prevention	N/A
Treatment	Pneumatic dilation, Heller myotomy, botulinum toxin
Medication	N/A
Prognosis	N/A
Frequency	Rare
Deaths	N/A

Familial Esophageal Achalasia is a rare gastrointestinal disorder characterized by the inability of the esophagus to move food toward the stomach due to the failure of the lower esophageal sphincter (LES) to relax. This condition is termed "familial" when it occurs in more than one member of a family, suggesting a genetic component.

Pathophysiology

Achalasia results from the degeneration of the myenteric plexus in the esophagus, leading to the loss of inhibitory neurons that facilitate the relaxation of the LES. In familial cases, genetic mutations are believed to play a significant role, although the exact genes involved are not fully understood. The condition leads to the characteristic symptoms of dysphagia (difficulty swallowing), regurgitation of undigested food, chest pain, and weight loss.

Symptoms

The primary symptoms of familial esophageal achalasia include:

• Dysphagia for solids and liquids
• Regurgitation of undigested food
• Chest pain
• Weight loss
• Heartburn
• Coughing or aspiration

Diagnosis

Diagnosis of familial esophageal achalasia typically involves:

• Esophageal manometry: This is the most definitive test, measuring the pressure in the esophagus and LES.
• Barium swallow: An X-ray test that shows the narrowing of the esophagus and delayed emptying into the stomach.
• Endoscopy: Used to rule out other causes of esophageal obstruction.

Treatment

Treatment options aim to relieve symptoms by reducing the pressure at the LES. These include:

• Pneumatic dilation: A procedure that stretches the LES using a balloon.
• Heller myotomy: A surgical procedure that cuts the muscles at the LES to allow easier passage of food.
• Botulinum toxin injections: Temporarily paralyzes the muscles of the LES.
• Medications: Such as nitrates or calcium channel blockers to relax the LES.

Prognosis

The prognosis for familial esophageal achalasia varies. While treatments can alleviate symptoms, they do not cure the underlying condition. Long-term follow-up is necessary to monitor for complications such as esophageal cancer.

Genetic Considerations

Familial cases of achalasia suggest a hereditary component, although the specific genetic mutations have not been fully identified. Research is ongoing to better understand the genetic basis of this condition.

Also see

• Esophageal motility disorder
• Gastroesophageal reflux disease
• Esophageal cancer
• Myenteric plexus