Prevalence, incidence, and age at diagnosis in Marfan Syndrome
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RESEARCH
Open Access
Prevalence, incidence, and age at diagnosis in Marfan Syndrome Kristian A. Groth1,2* , Hanne Hove3,4, Kasper Kyhl5, Lars Folkestad6,7, Mette Gaustadnes2, Niels Vejlstrup5, Kirstine Stochholm8,9, John R. Østergaard8, Niels H. Andersen1 and Claus H. Gravholt2,9
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. Method: 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. Conclusion: 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. Keywords: Epidemiology, Rare diseases, Aortic aneurism, Lens subluxation, Aortic dissection
Background Since the first description of Marfan syndrome (MFS), decades of research in the syndrome [1] have contributed to the knowledge about the phenotypical presentation and the genetic background. In 1986, the definition of MFS described by the Berlin criteria [2], was purely based on the clinical phenotype. Later on, Dietz et al. found a connection between MFS and FBN1, the gene coding for the fibrillin protein [3]. The first Ghent criteria from 1996 (Ghent-I) [4], which were a revision of the Berlin criteria, used the newly discovered FBN1 mutations as a component in the diagnostic criteria. In 2010, the revised Ghent criteria (Ghent-II) [5] highlighted FBN1 * Correspondence: [email protected] 1 Department of Cardiology, Aarhus University Hospital, DK-8200 Aarhus N, Denmark 2 Department of Molecular Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, DK-8200 Aarhus N, Denmark Full list of author information is available at the end of the article
mutation, aortic dilatation and ectopia lentis as cornerstones in the MFS diagnosis [5]. The most frequently quoted prevalence of
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