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. 2015 Dec 2:10:153.
doi: 10.1186/s13023-015-0369-8.

Prevalence, incidence, and age at diagnosis in Marfan Syndrome

Kristian A Groth  1   2 , Hanne Hove  3   4 , Kasper Kyhl  5 , Lars Folkestad  6   7 , Mette Gaustadnes  8 , Niels Vejlstrup  5 , Kirstine Stochholm  9   10 , John R Østergaard  9 , Niels H Andersen  11 , Claus H Gravholt  8   10
Affiliations

Prevalence, incidence, and age at diagnosis in Marfan Syndrome

Kristian A Groth et al. Orphanet J Rare Dis. .

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.

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Figures

Fig. 1
Fig. 1
The total cohort and evaluation process defining patients with MFS
Fig. 2
Fig. 2
a Observed cumulated absolute number of Marfan syndrome patients alive per year during the study period from 1977 to 2014. The dashed line (expected prevalence) indicates the expected number of Marfan syndrome patients assuming a prevalence of 6.5 per 100,000 Danish inhabitants. The year of change of nosology is indicated by a horizontal line and marked with the nosology name. b Number of Marfan syndrome patients diagnosed per year during the study period from 1977 to 2014. Bars divided by sex. The year when the MFS nosology was changed, is indicated by a horizontal line and marked with the nosology name
Fig. 3
Fig. 3
Yearly incidence of Marfan syndrome in Denmark during the study period 1977 to 2014. For clarity, the significant increase in incidence during the study period is visualized by linear regression
Fig. 4
Fig. 4
Absolute numbers of Marfan syndrome in Denmark during the study period 1977 to 2014 and the absolute theoretical numbers extrapolated onwards to 2050. Extrapolation is based on the expected Danish population according to Statistical Denmark (www.dst.dk). Incidence is set to 0.19 per 100,000 as found in this study. Since there has been no studies reporting mortality ratios in comparison with general population, we have for illustration plotted five different relative risks (RR) of mortality compared to the general Danish population
Fig. 5
Fig. 5
a Number of Marfan syndrome patients by age at diagnosis. Patients diagnosed during the study period 1977 to 2014. Dashed lines indicating the age when 10, 25, 50 and 75 % of MFS patients are diagnosed. b Age at diagnosis versus year of diagnosis during the study period 1977 to 2014. The non-significant increase in age at diagnosis is visualized by quantile regression
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