achalasia

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

• https://twitter.com/drshahinhameed/status/812900251904274432

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