Gradually Progressive Dysphagia, Reflux, Weight Loss, and Chest Discomfort
Am Fam Physician. 2019 Jul 15;100(2):113-114.
A 52-year-old man presented with dysphagia to solids and liquids that had been worsening gradually over the previous two years. He reported a choking sensation with gagging while eating, but drinking water helped wash the food down. He had unintentional weight loss of 100 lb. He also had a dry cough. He had no history of caustic ingestions. Before quitting 10 years earlier, the patient was a 40-pack-year smoker and drank alcohol heavily.
The patient had no improvement with a trial of histamine H2 blockers and proton pump inhibitors. On physical examination, he was obese but had normoactive bowel sounds and no oral lesions. The abdominal examination was normal. A barium swallow test was performed as part of the workup (Figure 1).
Based on the patient's history, physical examination, and barium swallow test findings, which one of the following is the most likely diagnosis?
A. Esophageal achalasia.
B. Esophageal cancer.
C. Esophageal stricture.
D. Gastroesophageal reflux disease.
The answer is A: esophageal achalasia, the inability of the lower esophageal sphincter to relax. People with this condition also have a lack of esophageal peristalsis. Achalasia results from inflammation and degeneration of neurons in the esophageal wall. Although the cause is unknown, there is an association with an inflammatory attack on esophageal neurons in response to a viral infection such as herpes zoster, measles, or herpes simplex virus 1.1,2 There is a possible genetic predisposition to HLA-DQ.2
Achalasia has an annual incidence of 1.6 cases per 100,000 individuals.3 Men and women are affected equally. It has an insidious onset and is usually diagnosed between 25 and 60 years of age.2 Patients present with dysphagia to solids (91%) and liquids (85%), as well as regurgitation of undigested foods or saliva (75% to 91%).4 Patients may present with chest pain, weight loss,
Referencesshow all references
1. Familiari P, Greco S, Volkanovska A, et al. Achalasia: current treatment options. Expert Rev Gastroenterol Hepatol. 2015;9(8):1101–1114....
2. Krill JT, Naik RD, Vaezi MF. Clinical management of achalasia: current state of the art. Clin Exp Gastroenterol. 2016;9:71–82.
3. Richter JE. Esophageal motility disorder achalasia. Curr Opin Otolaryngol Head Neck Surg. 2013;21(6):535–542.
4. Eckardt VF, Stauf B, Bernhard G. Chest pain in achalasia: patient characteristics and clinical course. Gastroenterology. 1999;116(6):1300–1304.
5. Zaninotto G, Bennett C, Boeckxstaens G, et al. The 2018 ISDE achalasia guidelines. Dis Esophagus. 2018;31(9):1–29.
6. Kessing BF, Bredenoord AJ, Smout AJ. Erroneous diagnosis of gastroesophageal reflux disease in achalasia. Clin Gastroenterolol Hepatol. 2011;9(12):1020–1024.
This series is coordinated by John E. Delzell Jr., MD, MSPH, Associate Medical Editor.
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