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achalasia

Wednesday 16 May 2007

EndoAtlas

Definition: Achalasia is an esophageal motor disorder characterized by a failure of relaxation of the lower esophageal sphincter and absence of progressive peristalsis in the esophageal body. Achalasia could be an immune-mediated disease.

Images

- Achalasia cardia

Synopsis

- markedly diminished myenteric ganglion cells within the esophageal body
- few residual ganglion cells in the proximal esophagus
- few randomly distributed ganglion cells in the mid- and distal portions of the esophagus

- chronic nflammation within myenteric nerves

  • mixture of lymphocytes and eosinophils
  • occasional plasma cells and mast cells

- focal replacement of myenteric nerves by collagen
- almost complete replacement in some cases

- changes resulting from chronic stasis of ingested materials in the lumen

  • diffuse squamous hyperplasia
  • lymphocytic mucosal esophagitis
  • lymphocytic inflammation of the lamina propria and submucosa
  • prominent germinal centers
  • submucosal periductal or glandular inflammation
  • complete loss of submucosal glands

- squamous mucosal alterations in end-stage achalasia (11684958)

  • rare high-grade squamous dysplasia
  • rare superficially invasive squamous cell carcinoma

- myenteric inflammation (10935657)

  • CD3-positive T cells, most of which are also CD8-positive
  • many of the CD3-positive/CD8-positive myenteric lymphocytes also express TIA-1, suggesting they are resting or activated cytotoxic T cells. -* granzyme B in a subpopulation of these cells

Variants

- familial esophageal achalasia (FEA) (MIM.200400)

Associations

- partial trisomy 1p (1p36.22—>pter) and partial monosomy 9p (9p22.2—>pter) associated with achalasia, flexion deformity of the fingers and epilepsy (17100198)

References

- Chen CP, Lin SP, Lee CC, Town DD, Wang W. Partial trisomy 1p (1p36.22—>pter) and partial monosomy 9p (9p22.2—>pter) associated with achalasia, flexion deformity of the fingers and epilepsy in a girl. Genet Couns. 2006;17(3):301-6. PMID: 17100198

- Liu W, Fackler W, Rice TW, Richter JE, Achkar E, Goldblum JR. The pathogenesis of pseudoachalasia: a clinicopathologic study of 13 cases of a rare entity. Am J Surg Pathol. 2002 Jun;26(6):784-8. PMID: 12023584

- Lehman MB, Clark SB, Ormsby AH, Rice TW, Richter JE, Goldblum JR. Squamous mucosal alterations in esophagectomy specimens from patients with end-stage achalasia. Am J Surg Pathol. 2001 Nov;25(11):1413-8. PMID: 11684958

- Clark SB, Rice TW, Tubbs RR, Richter JE, Goldblum JR. The nature of the myenteric infiltrate in achalasia: an immunohistochemical analysis. Am J Surg Pathol. 2000 Aug;24(8):1153-8. PMID: 10935657

- Goldblum JR, Whyte RI, Orringer MB, Appelman HD. Achalasia. A morphologic study of 42 resected specimens. Am J Surg Pathol. 1994 Apr;18(4):327-37. PMID: 8141427