MKSAP Quiz: Dysphagia to both solids and liquids

This month's quiz asks readers to determine the most likely diagnosis for a 75-year-old man with recent weight loss and progressive dysphagia of 8 months' duration, as well as chest pain and heartburn symptoms.

A 75-year-old man is evaluated for progressive dysphagia of 8 months' duration for both solid food and water, and the necessity to induce vomiting several times each month to relieve his symptoms. He also has experienced chest pain and heartburn symptoms. He has lost approximately 6 kg (13 lb) of weight over the preceding 3 months and a total of 9 kg (20 lb) since his symptoms began. He has a long history of cigarette and alcohol use. His medical history and review of systems is otherwise negative. He has no travel history outside the northeastern United States. He takes no medication.

On physical examination, vital signs are normal; BMI is 23. He appears thin and tired. The remainder of the physical examination is unremarkable.

Upper endoscopic findings reveal retained saliva, liquid, and food in the esophagus without mechanical obstruction. Manometry demonstrates incomplete lower esophageal relaxation and aperistalsis.

Which of the following is the most likely diagnosis?

A. Achalasia
B. Chagas disease
C. Eosinophilic esophagitis
D. Pseudoachalasia

Reveal the Answer

MKSAP Answer and Critique

The correct answer is D. Pseudoachalasia. This content is available to MKSAP 18 subscribers as Question 5 in the Gastroenterology and Hepatology section. More information about MKSAP is available online.

This patient likely has pseudoachalasia, and endoscopic ultrasound should be used to diagnose a possible tumor of the distal esophagus or gastric cardia. The other causes of pseudoachalasia are benign disease, such as amyloidosis and sarcoidosis, and postsurgical status (for example, after Nissen fundoplication or bariatric surgery). The clinical presentation of achalasia consists of dysphagia to both solids and liquids along with regurgitation of undigested food and saliva. Other conditions can mimic achalasia and can have identical clinical, barium-imaging, and manometric findings, as well as identical endoscopic appearance. These include pseudoachalasia, secondary achalasia, and Chagas disease. Pseudoachalasia is caused by a tumor at the gastroesophageal junction infiltrating the myenteric plexus causing esophageal motor abnormalities. Tumors capable of infiltrating the myenteric plexus include those of the distal esophagus, gastric cardia, pancreatic, breast, lung, and hepatocellular. Patients with pseudoachalasia are often in their sixth decade of life or older, have a short duration of symptoms, and experience sudden and profound weight loss. Endoscopic ultrasonography can exclude an infiltrating tumor, and guidelines recommend its use in patients with a strong suspicion for malignancy.

Achalasia affects men and women equally, with an annual incidence of 1 in 100,000 individuals. It tends to occur between the ages of 30 and 60 years. Typical achalasia has an insidious onset and long duration of symptoms, often measured in years, before patients seek medical attention. This patient's age, short duration of symptoms, and rapid weight loss argue against the diagnosis of achalasia.

Chagas disease is caused by infection with the vector-borne parasite Trypanosoma cruzi in rural areas of Latin America. The major manifestations of Chagas disease include enteric myenteric destruction, resulting in achalasia, megacolon, heart disease, and other neurologic disorders. The lack of travel and absence of other manifestations of Chagas disease make this diagnosis unlikely.

Eosinophilic esophagitis is inconsistent with this patient's symptoms and endoscopic examination. Its typical presentation is in younger patients with food bolus obstruction. Endoscopy findings in eosinophilic esophagitis include rings and furrows.

Key Point

  • Pseudoachalasia is caused by a tumor at the gastroesophageal junction infiltrating the myenteric plexus causing esophageal motor abnormalities; symptoms, barium-imaging and manometric findings, and endoscopic appearance are similar to achalasia.