The Unusual Coexistence of Achalasia and Scleroderma

Abstract

Scleroderma is an autoimmune disease characterized by excessive deposition of collagen and other connective tissue macromolecules in skin and multiple internal organs.It is called systemic Sclerosis(SS),when it involves internal organs.SS involves GI tract in 90% of the patients.Esophageal motility is the most frequently affected function in GI tract. It classically manifests as reduced LES pressure and loss of distal esophageal body peristalsis.In comparison Achalasia is a primary esophageal motor disorder characterized by insufficient relaxation of the LES and loss of esophageal peristalsis.While Sclerdoerma leads to low LESP, Achalasia causes insufficient LES relaxation.Coexistence of the two is rare.We report a case of a Scleroderma patient presenting with Achalasia. A 62 years old African American woman with history of Scleroderma and Systemic Lupus Erythematosus overlap syndrome was evaluated by gastroenterology for dysphagia. She had worsening dysphagia to both solids and liquids for three to four years.She underwent EGD which showed dilated, sigmoid shaped esophagus with retained liquid and solid food. LES was found to be hypertensive and resistance was felt while entering stomach.Barium esophagram showed dilated esophagus with narrowing at LES with bird beak appearance.So both studies were suggestive of Achalasia. Patient refused esophageal manometry at multiple occasions.Scleroderma occurs worldwide and affects all races but has higher general and age-specific rates in blacks with more severe disease and poorer outcomes than whites.GI tract involvement is very common and occurs early in the course of the disease. Esophagus is the most frequently involved internal organ causing symptoms of dysphagia, odynophagia,heartburn and regurgitation.Esophageal motility gets affected and is characterized by aperistalsis or low amplitude contractions, decreased or absent resting LES tone and lack of coordination between esophageal contractions and LES relaxations.Esophageal dysmotility in association with delayed gastric emptying results in impaired esophageal clearance of refluxed gastric contents and the development of reflux disease. In comparison Achalasia is characterized by absence of peristalsis in the distal two-thirds and elevated resting pressure in LES, typically above 45 mmhg along with failed LES relaxation with swallowing. LESP stays above 8 mmhg above gastric pressure.When the manometric characteristics of LES are compared, Achalasia is characterized by hypertensive LES and Scleroderma by hypotensive LES.Due to opposite changes in LESP, coexistence of Achalasia and scleroderma is extremely rare and so far only few cases have been reported. This case reports shows the rare coexistence of the two conditions making Achalasia one of differentials of dysphagia in Scleroderma patients.Figure 1Figure 2Figure 3