Henning R Gockel1, Moritz Lesse2, Johannes Schumacher1, Michaela Müller3, Ines Gockel4. 1. Institute of Human Genetics, Life and Brain, University of Bonn, Bonn, Germany. 2. Clinic of Internal Medicine, Dr. Horst Schmidt-Klinik (HSK Helios-Klinik), Wiesbaden, Germany. 3. Department of Gastroenterology, German Clinic for Diagnostics (DKD Helios-Klink), Wiesbaden, Germany. 4. Department of Visceral, Transplantation, Thoracic and Vascular Surgery, University Hospital of Leipzig, Leipzig, Germany.
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.
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 achalasiapatients 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.
Authors: Henning R Gockel; Johannes Schumacher; Ines Gockel; Hauke Lang; Thomas Haaf; Markus M Nöthen Journal: Hum Genet Date: 2010-08-11 Impact factor: 4.132
Authors: F Paladini; E Cocco; I Cascino; F Belfiore; D Badiali; L Piretta; F Alghisi; F Anzini; M T Fiorillo; E Corazziari; R Sorrentino Journal: Neurogastroenterol Motil Date: 2009-02-27 Impact factor: 3.598