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.
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