BACKGROUND
A 37-year-old man presents with a 9-month history of food sticking in his throat.
On physical examination, the patient appears thin but not emaciated. His vital signs, including temperature, are normal. A conjunctival pallor is noted. Findings from the cardiac and respiratory portions of the examination are unremarkable. He has a soft, nondistended abdomen with normal bowel sounds. The remainder of the examination yields unremarkable results.
A single-contrast, barium upper-gastrointestinal radiograph series (see Images 1-2) and a contrast-enhanced computed tomography (CT) scan of the chest (see Image 3) are performed.
What is the diagnosis?
This is an uncommon cause of dysphagia.
Author:
Gautam Dehadrai, MD,
Staff Physician,
Department of Radiology,
Veterans Administration Medical Center,
Albuquerque, NM
eMedicine Editor:
Rick G. Kulkarni, MD,
Assistant Professor,,
Yale School of Medicine,
Section of Emergency Medicine,
Department of Surgery,
Attending Physician,
Medical Director,
Department of Emergency Services,
Yale-New Haven Hospital, Conn
ANSWER
The condition can be divided into primary and secondary forms. Primary achalasia is caused by a loss of ganglion cells in the myenteric plexus of Auerbach, and it is more common than secondary achalasia, which may be caused by malignancy, diabetes, or Chagas disease (a Trypanosoma cruzi infection acquired by the bite of an infected reduviid bug). The most common age range at presentation is 25-60 years, with no predilection for sex. Patients with this condition have an increased incidence of malignancy; approximately 5% of patients develop squamous cell carcinoma, usually in the mid-esophagus.
Dysphagia is present in more than 90% of patients with achalasia. Other symptoms include regurgitation, weight loss, and chest pain or discomfort. Recurrent aspiration of secretions and food material leads to pneumonia. The initial examination may be chest radiography, which often demonstrates homogeneous paramediastinal soft-tissue opacity, usually on the right side. Other findings may include mediastinal widening, air-fluid levels, absence of a gastric air bubble (due to a water-seal effect), and complications such as aspiration pneumonia or lung abscess (patients with achalasia may have chronic aspiration pneumonia involving Mycobacterium fortuitum-chelonae). A fluoroscopic barium swallow demonstrates failure of the contrast agent to enter the stomach when the patient is recumbent; nonpropulsive tertiary esophageal contractions; various degrees of dilatation; and the bird-beak sign (ie, abrupt, smooth tapering of the distal esophagus). CT findings are nonspecific and insensitive, with esophageal dilatation usually present. Symmetric wall thickening helps to distinguish achalasia from pseudoachalasia caused by malignancy, in which mucosal irregularities or mass effect at the cardia are usually present.
Esophageal manometry is considered the diagnostic criterion standard. The findings include increased LES pressure and incomplete relaxation, as well as abnormal esophageal peristalsis. Endoscopy can yield biopsy samples to exclude malignancy and can permit direct visualization of esophagitis or ulcers. In addition, therapeutic interventions, including pneumatic balloon dilation (which is 70% effective, with a 5% perforation rate) and botulinum toxin injection (although only 30% of patients have continued relief at 1-year follow-up), may be performed during the procedure. Laparoscopic esophagocardiomyotomy usually results in progressive improvement, and it compares favorably with open surgery with regard to relief of dysphagia and GERD. Various drugs, such as calcium channel blockers and nitrates, are effective in a few patients, and they may be tried in patients with contraindications to pneumatic dilation or surgery.
The patient in this case underwent a laparoscopic esophagocardiomyotomy, which had to be converted to an open procedure. During the procedure, the patient also underwent a partial fundoplication to prevent postprocedural reflux. A follow-up barium esophagogram demonstrated substantially improved flow of the contrast material.
References:
Dahnert W. Radiology Review Manual. 3rd ed. Philadelphia, Pa: Lippincott, Williams & Wilkins; 1996.
Eisenberg R. Gastrointestinal Radiology: A Pattern Approach. 4th ed. Philadelphia, Pa: Lippincott, Williams & Wilkins; 2002.
