title: Prevalence, incidence, and age at diagnosis in Marfan Syndrome.
abstract: BACKGROUND
  Marfan syndrome is a genetic disorder with considerable morbidity and mortality. Presently, clinicians use the 2010 revised Ghent nosology, which includes optional genetic sequencing of the FBN1 gene, to diagnose patients. So far, only a few studies based on older diagnostic criteria have reported a wide range of prevalence and incidence. Our aim was to study prevalence, incidence, and age at diagnosis in patients with Marfan syndrome.
  
  
  METHODS
  Using unique Danish patient-registries, we identified all possible Marfan syndrome patients recorded by the Danish healthcare system (1977-2014). Following, we confirmed or rejected the diagnosis according to the 2010 revised Ghent nosology.
  
  
  RESULTS
  We identified a total of 1628 persons with possible Marfan syndrome. We confirmed the diagnosis in 412, whereof 46 were deceased, yielding a maximum prevalence of 6.5/100,000 at the end of 2014. The annual median incidence was 0.19/100,000 (range: 0.0-0.7) which increased significantly with an incidence rate ratio of 1.03 (95% CI: 1.02-1.04, p < 0.001). We found a median age at diagnose of 19.0 years (range: 0.0-74). The age at diagnosis increased during the study period, uninfluenced by the changes in diagnostic criteria. We found no gender differences.
  
  
  CONCLUSIONS
  The increasing prevalence of Marfan syndrome during the study period is possibly due to build-up of a registry. Since early diagnosis is essential in preventing aortic events, diagnosing Marfan syndrome remains a task for both pediatricians and physicians caring for adults.
authors.affiliation: Department of Cardiology, Aarhus University Hospital, DK-8200, Aarhus N, Denmark. kristian.groth@ki.au.dk.|Department of Molecular Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, DK-8200, Aarhus N, Denmark. kristian.groth@ki.au.dk.
authors.forename: Kristian A
authors.initials: KA
authors.lastname: Groth
authors.affiliation: Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, DK-2100, Copenhagen, Denmark.|The RAREDIS Database, Section of Rare Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, DK-2100, Copenhagen, Denmark.
authors.forename: Hanne
authors.initials: H
authors.lastname: Hove
authors.affiliation: Department of Cardiology, Rigshospitalet, DK-2100, Copenhagen, Denmark.
authors.forename: Kasper
authors.initials: K
authors.lastname: Kyhl
authors.affiliation: Department of Endocrinology, Odense University Hospital, DK-5000, Odense C, Denmark.|Institute of Clinical Reasearch, University of Southern Denmark, DK-5000, Odense C, Denmark.
authors.forename: Lars
authors.initials: L
authors.lastname: Folkestad
authors.affiliation: Department of Molecular Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, DK-8200, Aarhus N, Denmark.
authors.forename: Mette
authors.initials: M
authors.lastname: Gaustadnes
authors.affiliation: Department of Cardiology, Rigshospitalet, DK-2100, Copenhagen, Denmark.
authors.forename: Niels
authors.initials: N
authors.lastname: Vejlstrup
authors.affiliation: Centre for Rare Diseases, Department of Paediatrics, Aarhus University Hospital, DK-8200, Aarhus N, Denmark.|Department of Endocrinology and Internal Medicine, Aarhus University Hospital, DK-8000, Aarhus C, Denmark.
authors.forename: Kirstine
authors.initials: K
authors.lastname: Stochholm
authors.affiliation: Centre for Rare Diseases, Department of Paediatrics, Aarhus University Hospital, DK-8200, Aarhus N, Denmark.
authors.forename: John R
authors.initials: JR
authors.lastname: Østergaard
authors.affiliation: Department of Cardiology, Aarhus University Hospital, DK-8200, Aarhus N, Denmark.
authors.forename: Niels H
authors.initials: NH
authors.lastname: Andersen
authors.affiliation: Department of Molecular Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, DK-8200, Aarhus N, Denmark.|Department of Endocrinology and Internal Medicine, Aarhus University Hospital, DK-8000, Aarhus C, Denmark.
authors.forename: Claus H
authors.initials: CH
authors.lastname: Gravholt
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003718:Denmark / Q000453:epidemiology; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000453:epidemiology* / Q000235:genetics; D008840:Microfilament Proteins / Q000235:genetics; D008875:Middle Aged; D015995:Prevalence; D012042:Registries; D055815:Young Adult; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines