K22.0

Clinical Causes: Degeneration of the nerves controlling the muscles of the esophagus and lower esophageal sphincter (often idiopathic, meaning no specific cause identified). Potential autoimmune responses attacking the nerve cells. Genetic predispositions, though specific genes are yet to be identified. Secondary causes such as Chagas disease, which can damage the nerves of the esophagus (less common).

Key Symptoms: Difficulty swallowing (dysphagia), especially with solid foods. Regurgitation of undigested food or liquids. Chest pain or discomfort, which may be mistaken for heart issues. Feeling of a lump or fullness in the chest. Weight loss due to difficulty eating. Coughing or aspiration, especially at night, caused by food or liquid traveling back into the airways.

Diagnosis Path: Barium swallow X-ray, where a patient drinks a contrast solution to visualize esophageal movement and detect narrowing or dilation. Esophageal manometry, measuring the pressure and motility of the esophageal muscles to identify the absence of normal peristalsis and incomplete relaxation of the LES. Endoscopy, allowing direct visualization of the esophagus and stomach to exclude other conditions like tumors or strictures. Imaging studies may be used if secondary causes such as Chagas disease are suspected.

Treatment Protocols: Pneumatic dilation, where a balloon is inflated within the LES to force it open. Surgical myotomy (Heller myotomy), surgically cutting the muscles of the LES to ease passage of food. Peroral endoscopic myotomy (POEM), a minimally invasive endoscopic procedure to perform muscle cutting. Botulinum toxin (Botox) injections into the LES to temporarily relax the muscle, often used in patients who are not candidates for surgery. Medications, such as calcium channel blockers or nitrates, may provide temporary symptom relief but are generally less effective. Lifestyle modifications, including eating slowly, consuming smaller meals, and elevating the head during sleep to minimize reflux.