Prevalence, incidence, and age at diagnosis in Marfan Syndrome

K. A. Groth, H. Hove, K. Kyhl, L. Folkestad, M. Gaustadnes, N. Vejlstrup, K. Stochholm, J. R. Østergaard, N. H. Andersen, C. H. Gravholt

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Abstrakt

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.
OriginalsprogEngelsk
Artikelnummer153
TidsskriftOrphanet Journal of Rare Diseases
Vol/bind10
Antal sider10
ISSN1750-1172
DOI
StatusUdgivet - 2. dec. 2015

Emneord

  • adolescent adult *age *age at diagnosis aged article child delayed diagnosis Denmark diagnostic approach route female health care system human infant major clinical study male *Marfan syndrome/di [Diagnosis] *Marfan syndrome/ep [Epidemiology] *morbidity newborn prenatal diagnosis *prevalence register

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