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Oesophageal disease in systemic sclerosis: does heritability play a role?
Tracy M Frech1, Latifa Fakoya2, Andrew J Gawron3
1University of Utah and Salt Lake Veterans Affair Medical Center, Department of Internal Medicine, Division of Rheumatology, Salt Lake City, Utah, USA. tracy.frech@hsc.utah.edu.
Clinical and Experimental Rheumatology
|October 6, 2017
Summary
Systemic sclerosis (SSc) patients and their relatives show increased risks for gastrointestinal tract (GIT) diseases like GERD and esophagitis, suggesting a potential hereditary component. However, Barrett's esophagus appears to lack a significant heritable link.
Area of Science:
- Gastroenterology
- Genetics
- Rheumatology
Background:
- Systemic sclerosis (SSc) frequently involves gastrointestinal tract (GIT) complications, with gastroesophageal reflux disease (GERD) being the most prevalent.
- GERD in SSc can lead to severe esophageal conditions, including esophagitis, stricture, Barrett's esophagus, and esophageal adenocarcinoma.
Purpose of the Study:
- To investigate the heritability of esophageal diseases in patients with systemic sclerosis (SSc).
- To analyze the familial aggregation and relative risk (RR) of GIT diseases within SSc pedigrees using the Utah Population Database (UPDB).
Main Methods:
- Defined SSc, GERD, esophagitis, stricture, Barrett's, and esophageal adenocarcinoma using ICD Ninth and Tenth Revision codes.
- Employed a Cox regression model to estimate familial aggregation and RR of GIT diseases in SSc probands and their relatives, adjusting for sex and birth year.
Main Results:
- SSc probands exhibited significantly higher risks for GERD (RR: 3.28), dysphagia (RR: 5.58), esophageal stricture (RR: 5.16), esophagitis (RR: 4.86), and Barrett's (RR: 4.52).
- First-degree relatives of SSc probands showed elevated risks for GERD (RR: 1.14), dysphagia (RR: 1.22), and esophagitis (RR: 1.37).
- First cousins and spouses also demonstrated increased risks for esophagitis and dysphagia.
Conclusions:
- Esophagitis in SSc patients and their relatives may stem from both heritable and environmental factors, independent of GERD.
- Barrett's esophagus in the context of SSc does not appear to have a significant heritable component.
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