Prevalence, incidence, and age at diagnosis in Marfan Syndrome

Kristian A. Groth¹²^*, Hanne Hove³⁴, Kasper Kyhl⁵, Lars Folkestad⁶⁷, Mette Gaustadnes²,Niels Vejlstrup⁵, Kirstine Stochholm⁸⁹, John R. Østergaard⁸, Niels H. Andersen¹ and Claus H. Gravholt²⁹

*Corresponding author: Kristian A Groth kristian.groth@ki.au.dk

Author Affiliations

¹Department of Cardiology, Aarhus University Hospital, Aarhus N, DK-8200, Denmark

²Department of Molecular Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, Aarhus N, DK-8200, Denmark

³Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, DK-2100, Denmark

⁴The RAREDIS Database, Section of Rare Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, DK-2100, Denmark

⁵Department of Cardiology, Rigshospitalet, Copenhagen, DK-2100, Denmark

⁶Department of Endocrinology, Odense University Hospital, Odense C, DK-5000, Denmark

⁷Institute of Clinical Reasearch, University of Southern Denmark, Odense C, DK-5000, Denmark

⁸Centre for Rare Diseases, Department of Paediatrics, Aarhus University Hospital, Aarhus N, DK-8200, Denmark

⁹Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus C, DK-8000, Denmark

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Orphanet Journal of Rare Diseases 2015, 10:153 doi:10.1186/s13023-015-0369-8

The electronic version of this article is the complete one and can be found online at:http://www.ojrd.com/content/10/1/153

Received:	21 September 2015
Accepted:	22 November 2015
Published:	2 December 2015

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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 theFBN1 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.