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. 2016 Oct;32(5):369-374.
doi: 10.1159/000445790. Epub 2016 Aug 17.

Esophagus-Related Symptoms in First-Degree Relatives of Patients with Achalasia: Is Screening Necessary?

Henning R Gockel  1 , Moritz Lesse  2 , Johannes Schumacher  1 , Michaela Müller  3 , Ines Gockel  4
Affiliations

Esophagus-Related Symptoms in First-Degree Relatives of Patients with Achalasia: Is Screening Necessary?

Henning R Gockel et al. Visc Med. 2016 Oct.

Abstract

Background: Despite an increasing understanding of the pathophysiology of achalasia, the etiology of this esophageal motility disorder remains largely unknown. However, the occurrence of familial achalasia, its association with well-defined genetic syndromes, the candidate gene approach, and recent presentation of the first systematic genome-wide association study on achalasia suggest the involvement of genetic factors.

Methods: In this study we analyzed the frequency with which symptoms associated with esophageal function (swallowing difficulties, regurgitations, retrosternal cramps/pain, heartburn) occur in first-degree relatives of patients with achalasia to determine if screening is useful and justified against the background of early diagnosis in a genetically predisposed population. The survey of data was carried out in 759 relatives of the 359 achalasia patients included in this study by means of structured interviews.

Results: Swallowing difficulties as the principal symptom of achalasia were found to occur at least occasionally in 11.2% of first-degree relatives. In comparison with the prevalence of dysphagia in the general population of 7-10% up to 22%, as described in the literature, the frequency of swallowing difficulties does not seem to be increased in our population of relatives.

Conclusion: Screening measures do not appear to be justified in spite of the potential genetic background of achalasia.

Keywords: Achalasia patients; Esophagus-related symptoms; First-degree relatives; Screening.

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