Mortality and morbidity in patients with osteogenesis imperfecta in Denmark

Lars Folkestad*

*Kontaktforfatter for dette arbejde

Publikation: Bidrag til tidsskriftReviewForskningpeer review

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Resumé

Ostegenesis Imperfecta (OI) is a hereditary disease of the connective tissue caused by mutations to, mainly, the genes that are involved in the biosynthesis of collagen type 1. Patients are grouped according to clinical severity and mode of inheritance according to Sillence's classification (originally 1979, updated 2014). According to our data, the population prevalence of OI in Denmark was 10.3 per 100,000, with 575 patients registered with an OI diagnosis in the NPR and alive at the end of 2012 out of a total population of 5,602,628 persons. Hallmarks of the disease are multiple fractures, blue sclera and varying degrees of bone deformities. Collagen type 1 is the most abundant collagen in the body and is an important part of the structure and function of the heart and lungs, the skeleton and many other organs. We hypothesize that patients with OI will have increased prevalence and risk of fractures throughout life, lower bone mineral density (BMD), impaired bone microstructure and bone geometry and increased risk of cardiovascular diseases -thus increased risk of all cause mortality compared to the general population.

OriginalsprogEngelsk
ArtikelnummerB5454
TidsskriftDanish Medical Journal
Vol/bind65
Udgave nummer4
Antal sider51
ISSN1603-9629
StatusUdgivet - 2018

Fingeraftryk

Osteogenesis Imperfecta
Denmark
Collagen Type I
Population
Sclera
Skeleton
Connective Tissue
Bone Density
Lung
Mutation

Citer dette

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title = "Mortality and morbidity in patients with osteogenesis imperfecta in Denmark",
abstract = "Ostegenesis Imperfecta (OI) is a hereditary disease of the connective tissue caused by mutations to, mainly, the genes that are involved in the biosynthesis of collagen type 1. Patients are grouped according to clinical severity and mode of inheritance according to Sillence's classification (originally 1979, updated 2014). According to our data, the population prevalence of OI in Denmark was 10.3 per 100,000, with 575 patients registered with an OI diagnosis in the NPR and alive at the end of 2012 out of a total population of 5,602,628 persons. Hallmarks of the disease are multiple fractures, blue sclera and varying degrees of bone deformities. Collagen type 1 is the most abundant collagen in the body and is an important part of the structure and function of the heart and lungs, the skeleton and many other organs. We hypothesize that patients with OI will have increased prevalence and risk of fractures throughout life, lower bone mineral density (BMD), impaired bone microstructure and bone geometry and increased risk of cardiovascular diseases -thus increased risk of all cause mortality compared to the general population.",
author = "Lars Folkestad",
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Mortality and morbidity in patients with osteogenesis imperfecta in Denmark. / Folkestad, Lars.

I: Danish Medical Journal, Bind 65, Nr. 4, B5454, 2018.

Publikation: Bidrag til tidsskriftReviewForskningpeer review

TY - JOUR

T1 - Mortality and morbidity in patients with osteogenesis imperfecta in Denmark

AU - Folkestad, Lars

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