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Achalasia

Achalasia or acalasia is a failure of a ring of muscle (as a sphincter) to relax (completely). It refers most commonly to esophageal achalasia, which is a neuromuscular disorder of the esophagus characterized by the reduced ability to move food down the esophagus (peristalsis). In addition, the inability of the cardia ( also called lower esophageal sphincter)- to relax in response to swallowing (there is increased LES pressure- spasms). more...

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Synonyms are achalasia cardiae, cardiospasm, dyssynergia esophagus, esophageal aperistalsis.

Signs and symptoms

  • Dysphagia
  • Regurgitation of undigested food
  • Heartburn
  • Chest pains : increases after eating and may radiate to the back, neck, and arms.
  • Weight loss
  • Coughing, especially at night or when lying down

Diagnosis

Due to the similarity of symptoms, achalasia can be misdiagnosed as other disorders, such as gastroesophageal reflux disease (GERD) and Chagas disease

  • X-ray with a barium swallow or esophagography . Shows narrowing at the level of the gastroesophageal junction ("bird beak"), and various degrees of megaesophagus (esophageal dilation).
  • Endoscopy, which provides a view from within the esophagus.
  • Manometry, the key test for establishing the diagnosis. Measures the pressure induced in different parts of the esophagus and stomach during the act of swallowing.
  • CT scan, which provides further visual evidence.

Complications

  1. Gastroesophageal reflux disease-GERD or heartburn.
  2. Barrett's esophagus or Barrett's mucosa: in 10% of patients.
  3. There are two kinds of esophageal cancer: squamous cell carcinoma and adenocarcinoma. There are predisposing conditions that, if present for a long time, may lead to esophageal adenocarcinoma, like achalasia (in up to 5% of cases, Barrett's esophagus leads to esophageal adenocarcinoma).

Treatment and new expectations

  • Balloon (pneumatic) dilation. The muscle fibers will be stretched. Gastroesophageal reflux (GERD) occurs after dilatation in 25% to 35% of patients. Is a risk to later Heller myotomy.
  • Medication:
    • Intra-sphincteric injection of botulinum toxin (or botox), to paralyze cardia and prevent spasms. It is transitory and symptoms will return in the majority of patients within a year.
    • Drugs that reduce LES pressure such as nifedipine and nitroglycerin may be useful.
  • Heller myotomy laparoscopic surgery.
  • Transplant and artificial cardia.

Read more at Wikipedia.org


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Pathologic quiz case: Recurrent dysplasia in an elderly patient 20 years after treatment of achalasia
From Archives of Pathology & Laboratory Medicine, 4/1/01 by Brun, Erwin

A 74-year-old African American woman with a history of achalasia was admitted to the hospital with recurrent dysphasia for solid food and liquids. Twenty years prior to admission, she was diagnosed with achalasia and was treated with no known follow-up.

Upper gastrointestinal endoscopy on this admission showed esophageal dilatation and disordered motility consistent with achalasia. On entering the stomach, the endoscopy revealed large gastric folds (Figure 1). Biopsy of the gastric folds revealed a diffuse cellular infiltrate throughout the mucosa. The cells displayed enlarged hyperchromatic and pleomorphic nuclei with relatively abundant cytoplasm (Figure 2, hematoxylin-eosin, original magnification x20; Figure 3, hematoxylin-eosin, original magnification x51).

Pathologic Diagnosis: Linitis Plastics Secondary to Metastatic Breast Carcinoma

Histologically, the lesion showed features of infiltrating undifferentiated epithelial neoplasm. Because the patient had a history of breast carcinoma, the possibility of metastatic breast carcinoma was considered. Immunohistochemistry showed that the tumor cells were positive for CK7 and estrogen receptors, and were negative for CK20, which confirms the breast origin of this tumor.

Linitis plastica may be primary, caused by diffuse gastric carcinoma, or secondary to metastatic disease. Of the metastatic diseases, breast carcinoma is the most common malignancy to involve the stomach, causing linitis plastica. Other types of malignancy have also been reported to produce a picture of linitis plastica, including lung carcinoma and melanoma.

Gastrointestinal metastases are often unsuspected clinically owing to their nonspecific presentation and the fact that gastrointestinal symptoms can also be caused by various treatment regimens.1 Therefore, the distinction between primary and secondary gastrointestinal malignancies, especially in patients with a clinical history of another malignant neoplasm, is most important for successful treatment.

Intramural gastric metastatic disease can mimic primary gastric lesions not only clinically, but also histologically, rendering identification very difficult. Although peritoneal seeding and direct extension of an intraperitoneal organ neoplasm into other intraperitoneal organs are relatively common and can be explained pathophysiologically, there are cases displaying only intramural gastric metastatic disease. Breast cancer is the most common malignancy in women in the United States, occurring in 1 of 8 women during their lifetime. Early diagnosis and advanced treatment decrease the risk of developing new primary or metastatic malignancies.2

Metastatic breast cancer is most commonly seen in bones, lungs, the central nervous system, and liver. The incidence of extrahepatic gastrointestinal metastases is unclear, and the involvement of the gastric mucosa by tumor is unusual and can cause diagnostic clinical and pathologic dilemmas.3 Although distinguishing between primary and secondary gastric malignancies with radiographic or symptomatic patterns is extremely difficult, an awareness of the association might modify treatment in those patients who are not good candidates for laparatomy or who have extensive metastasis. Breast cancer usually precedes, but may be synchronous with the gastric infiltration; rarely, gastric involvement may be the first sign of dissemination alone or concurrent with other metastases.4 Symptoms are often nonspecific and may include weight loss greater than 5 kg, nausea, vomiting, epigastric pain, early satiety, gastrointestinal blood loss, or no symptoms. Pathologic and radiographic patterns of gastric metastases include microscopic or palpable induration only, without any radiographic abnormality; solitary or multiple nodular masses that present as filling defects; and diffuse infiltration of the gastric wall that simulates linitis plastica.4

The majority of breast metastases to the stomach produce a linitis plastics pattern, and the suggested criterion for this pattern of disease is diffuse mural thickening of the stomach wall greater than 1 cm with apparent narrowing of the lumen in the presence of adequately distended stomach.1 Endoscopy is a less reliable technique than barium studies in the diagnosis of linitis plastics in the stomach due to either primary or secondary malignancy, because the overlying mucosa can appear normal and tumor cells are predominantly located in the submucosa and are often separated by large areas of fibrosis.1

The usefulness of a panel of selected immunohistochemical markers to determine the primary site as being the breast in an appropriate clinical setting is greatly emphasized,5 especially analyses for estrogen and progesterone receptors and other organ-specific cytokeratins.

Finally, from a practical point of view, considering the possibility of metastatic cancer in every patient with a history of malignant neoplasm and applying appropriate diagnostic workup, including appropriate immunohistochemical evaluation and correlation with original neoplasm, are the best means to ascertain the correct diagnosis and proper treatment.

References

1. Elliott LA, Hall GD, Perren TJ, Spence JA. Metastatic breast carcinoma involving the gastric antrum and duodenum: computed tomography appearance. Br J Radiol. 1995;68:970-972.

2. Schwarz RE, Klimstra DS, Turnbull AD. Metastatic breast cancer masquerading as gastrointestinal primary. Am J GastroenteroL 1998;93:111-114.

3. Catino A, Lorusso V, Gargano G, et al. Metastatic involvement of the stomach secondary to breast carcinoma: a case report. Eur I Gynaecol OncoL 1992; 13(suppl 1 ):85-88.

4. Cormier WJ, Gaffey TA, Welch JM, Welch JS, Edmonson JH. Linitis plastica caused by metastatic lobular carcinoma of the breast. Mayo Clin Proc. 1980;55: 747-753.

5. Shimizu M, Matsumoto T, Hirokawa M, Shimozuma K, Manabe T. Gastric metastasis from breast cancer: a pitfall in gastric biopsy specimens. Pathol Int. 1998;48:240-241.

Erwin Brun, MD; Majd Jundi, MD

Accepted for publication June 8, 2000.

From the Department of Pathology, Washington Hospital Center, Washington, DC.

Reprints not available from the author.

Copyright College of American Pathologists Apr 2001
Provided by ProQuest Information and Learning Company. All rights Reserved

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