G5 Artikkeliväitöskirja
Epidemiology of neurofibromatosis type 1 in Finland : incidence, mortality, pregnancies and congenital malformations

Julkaisun tekijät: Leppävirta Jussi
Kustantaja: University of Turku
Paikka: Turku
Julkaisuvuosi: 2018
ISBN: 978-951-29-7260-9
eISBN: 978-951-29-7261-6


Neurofibromatosis type 1 (NF1) is a dominantly inherited cancer syndrome, which is caused by mutations in the NF1 gene. Because of the high mutation rate of the gene, approximately half of the patients have a new mutation, while none of the parents have the disorder. The incidence of NF1 is estimated to be approximately 1:3,000. The best-known symptoms of NF1 are neurofibromas on the skin, but NF1 is a multisystem disorder associated with a decreased overall survival and increased risk for pathologies such as cancer, learning difficulties, epilepsy and speech defects. 

While there are some previous epidemiological studies on NF1-associated pregnancies and mortality of NF1, data is very limited. No epidemiological data is reported on birth size or overall risk for congenital malformations in NF1. We have acquired a nationwide cohort of approximately 1,500 patients with a confirmed diagnosis for NF1, and ten matched controls per NF1 patient were collected. The data was linked with administrative registers to study incidence, mortality, pregnancies, birth size and congenital malformations of NF1. 

We observed that the incidence of NF1 in Finland was approximately 1:2,000, which is higher than previously generally accepted. Mortality of NF1 was considerably higher than in the general population. Pregnancy duration was shortened by a fetus with NF1, and the risk for several pregnancy and delivery complications was increased among NF1 mothers. Birth weight was decreased by having a mother with NF1, while having NF1 present in the child increased it. The risk for congenital malformations was almost three-fold among NF1 children compared to matched controls. 

Our study highlights a wide spectrum of ailments that NF1 causes, and the results can be utilized when guidelines of treatment and follow-up of NF1 are developed.

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Last updated on 2019-21-08 at 23:14