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Esophagus-Related Symptoms in First-Degree Relatives of Patients with Achalasia: Is Screening Necessary?
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Titel: |
Esophagus-Related Symptoms in First-Degree Relatives of Patients with Achalasia: Is Screening Necessary? |
In: | Visceral Medicine, 32, 2016, 5, S. 369-374 |
veröffentlicht: |
S. Karger AG
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Umfang: | 369-374 |
ISSN: |
2297-4725 2297-475X |
DOI: | 10.1159/000445790 |
Zusammenfassung: | <jats:p><b><i>Background:</i></b> 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. <b><i>Methods:</i></b> 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. <b><i>Results:</i></b> 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. <b><i>Conclusion:</i></b> Screening measures do not appear to be justified in spite of the potential genetic background of achalasia.</jats:p> |
Format: | E-Article |
Quelle: | S. Karger AG (CrossRef) |
Sprache: | Englisch |