Mortality and Causes of Death in Patients With Osteogenesis Imperfecta: A Register‐Based Nationwide Cohort Study

  title={Mortality and Causes of Death in Patients With Osteogenesis Imperfecta: A Register‐Based Nationwide Cohort Study},
  author={Lars Folkestad and Jannie Dahl Hald and Vladimir Canudas-Romo and Jeppe Gram and Anne Pernille Hermann and Bente Lomholt Langdahl and Bo Abrahamsen and Kim Brixen},
  journal={Journal of Bone and Mineral Research},
Osteogenesis imperfecta (OI) is a hereditary connective tissue disease that causes frequent fractures. Little is known about causes of death and length of survival in OI. The objective of this work was to calculate the risk and cause of death, and the median survival time in patients with OI. This study was a Danish nationwide, population‐based and register‐based cohort study. We used National Patient Register data from 1977 until 2013 with complete long‐term follow‐up. Participants comprised… 
Fracture Rates and Fracture Sites in Patients With Osteogenesis Imperfecta: A Nationwide Register‐Based Cohort Study
  • L. Folkestad, J. Hald, K. Brixen
  • Medicine
    Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
  • 2017
The risk of fractures seems largest in the childhood and adolescent years, and the relative risk of fracture declines with age in patients with OI compared to the general population, in a Danish nationwide, population‐based, cohort study.
Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study
This OI nationwide registry study shows that the life expectancy of OI patients is adversely affected by the disease, and patients with OI had a 2.9 times higher hospitalization rate compared to the general Dutch population.
Mortality and morbidity in patients with osteogenesis imperfecta in Denmark.
It is hypothesized 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 diseasesthus increasedrisk of all cause mortality compared to the general population.
Hospital incidence, management and direct cost of osteogenesis imperfecta in Spain: a retrospective database analysis
Analysis of admission records from patients admitted with OI in specialized care settings in Spain between 2000 and 2017 provides data that should be taken into account for the development of improved and more efficient treatment protocols, and in reducing the burden of OI at the healthcare system level.
Cardiopulmonary Status in Adults with Osteogenesis Imperfecta: Intrinsic Lung Disease May Contribute More Than Scoliosis.
The lack of a relationship between decreased pulmonary function and the severity of scoliosis suggests that restrictive lung physiology in this population is likely because of factors intrinsic to OI and not entirely because of thoracic cage deformities.
Scoliosis and Cardiopulmonary Outcomes in Osteogenesis Imperfecta Patients.
Pulmonary function is not significantly correlated with scoliosis, supporting the hypothesis that decreased pulmonary function is intrinsic to OI and/or chest wall deformities, rather than secondary to scolium.
Impact of fracture characteristics and disease-specific complications on health-related quality of life in osteogenesis imperfecta
Physical function was decreased in OI patients who had fractures before 2 years old, especially in lower extremity, and Appropriate medical managements for cardiopulmonary insufficiency are required not only to maintain physical function but also to decrease mortality.


Causes of death in osteogenesis imperfecta.
It was clear that osteogenesis imperfecta contributed significantly to death, almost certainly to many of the respiratory deaths and to deaths from cardiac failure due to kyphoscoliosis.
Osteogenesis imperfecta: a genetic, radiological, and epidemiological study
The point prevalence at birth of osteogenesis imperfecta was estimated by a systematic search of all children born 1.1. 1970 to 31. XII. 1983 in the county of Fyn (Denmark). Additionally, the
Genetic heterogeneity in osteogenesis imperfecta.
An epidemiological and genetical study of osteogenesis imperfecta (OI) in Victoria, Australia confirmed that there are at least four distinct syndromes at present called OI. The largest group of
Heart disease in patients with osteogenesis imperfecta - A systematic review.
Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment
The new OI nomenclature and the pre‐and postnatal severity assessment introduced in this review, emphasize the importance of phenotyping in order to diagnose, classify, and assess severity of OI.
Osteogenesis imperfecta after the menopause.
Efficacy and safety of single-dose zoledronic acid for osteoporosis in frail elderly women: a randomized clinical trial.
In this group of frail elderly women with osteoporosis, 1 dose of zoledronic acid improved BMD over 2 years and the clinical importance of nonsignificant increases in fracture and mortality rates in the treatment group needs further study.
Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms
Data obtained from human OI patients and the mouse model Aga2 provide novel evidence for primary effects of type I collagen mutations on the heart and lung, and will have potential benefits of anticipatory clinical exams and early intervention in Oi patients.
Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation
Identification of these multiple causative defects has provided crucial information for accurate genetic counseling, inspired a recently proposed functional grouping of osteogenesis imperfecta types by shared mechanism to simplify current nosology, and has prodded investigations into common pathways in osteogenesis perfecta.