Bilateral leg edema and difficulty swallowing

Diagnosis: Achalasia

Achalasia is characterized by an incomplete relaxation of the lower esophageal sphincter (LES) accompanied by aperistalsis of the esophageal body. The etiology of primary achalasia is unknown, but involves the degeneration of inhibitory neurons within the myenteric plexus responsible for LES relaxation and esophageal peristalsis.

Many potential causes. Infectious, inflammatory, autoimmune, and genetic causes have all been proposed. Achalasia has a prevalence of less than 1 in 10,000; its incidence is 0.3 to 1 per 100,000 per year, with peaks in the third and seventh decades of life. Men and women are affected equally.¹

Conversely, pseudoachalasia—or secondary achalasia—has a known cause that either destroys the neurons of LES relaxation or has a mass effect that limits LES relaxation. Its most common cause is malignancy involving the gastroesophageal junction. Other causes include Chagas disease, an infection by the parasite Trypanosoma cruzi that affects the myenteric plexus, and amyloidosis.²

A disorder that goes undiagnosed for years

In primary achalasia symptom onset is insidious, with the disorder typically going undiagnosed for several years. Patients experience a gradual dysphagia for solids, progressing to liquids. Over time, patients adopt particular behaviors to aid the transit of food boluses down the esophagus and through the contracted LES, including eating slowly, stretching, moving side-to-side, or walking after meals.¹ Regurgitation of food, chest pain, weight loss, heartburn, and difficulty belching are also common complaints.³ A more rapid onset and progression of symptoms (less than 6 months) is suggestive of pseudoachalasia and cancer.

Left untreated, primary achalasia leads to a progressively dilating esophagus with increased risk of aspiration, perforation, malnutrition, weight loss, and esophageal cancer.³ This case is remarkable for how far the patient’s disease progressed before he presented with signs and symptoms more indicative of secondary malnutrition than the primary disease.