title: Esophagus-Related Symptoms in First-Degree Relatives of Patients with Achalasia: Is Screening Necessary?
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.
  
  
  CONCLUSIONS
  Screening measures do not appear to be justified in spite of the potential genetic background of achalasia.
authors.affiliation: Institute of Human Genetics, Life and Brain, University of Bonn, Bonn, Germany.
authors.forename: Henning R
authors.initials: HR
authors.lastname: Gockel
authors.affiliation: Clinic of Internal Medicine, Dr. Horst Schmidt-Klinik (HSK Helios-Klinik), Wiesbaden, Germany.
authors.forename: Moritz
authors.initials: M
authors.lastname: Lesse
authors.affiliation: Institute of Human Genetics, Life and Brain, University of Bonn, Bonn, Germany.
authors.forename: Johannes
authors.initials: J
authors.lastname: Schumacher
authors.affiliation: Department of Gastroenterology, German Clinic for Diagnostics (DKD Helios-Klink), Wiesbaden, Germany.
authors.forename: Michaela
authors.initials: M
authors.lastname: Müller
authors.affiliation: Department of Visceral, Transplantation, Thoracic and Vascular Surgery, University Hospital of Leipzig, Leipzig, Germany.
authors.forename: Ines
authors.initials: I
authors.lastname: Gockel
keywords: Achalasia patients; Esophagus-related symptoms; First-degree relatives; Screening