Background Osteogenesis Imperfecta (OI) is characterized by bone fragility, and secondary features such as blue sclerae, dentinogenesis imperfecta, hearing loss, ligamentous laxity and short stature. It was thought that health-related quality of life (Qol) in patients with OI mainly depends on the severity of the skeletal deformities. However, it has become clear that additional factors can affect the Qol in all OI patients. In this study, we compare dimensions of QoL in adults with OI with a control population. Methods The SF-36 questionnaire was distributed among 330 adult patients with different OI types. Results were compared with two control populations from the Netherlands. Age-matched comparisons were made with one of the two control populations. Results The results were summarized in 8 domains: General and Mental Health, Physical and Social Function, Bodily Pain, Vitality, Physical and Emotional Role. General health and physical function in all types of OI are low compared to controls, except OI type 4 patients aged 55+ years. Bodily pain in OI patients appeared significantly worse than in the control population. There was no significant difference between OI types regarding pain and vitality. Vitality was only in the OI type 1 group significantly lower compared to controls. Patients with OI type 1 had a significantly reduced mental health. Social functioning appeared most effective in type 3 around 20 years of age. Conclusion Qol in adult patients with OI should be an important outcome measure in every OI clinic but the amount of baseline data on this subject in adults is sparse. This baseline measurement study is the largest study to date investigating Qol in OI patients. The mean scores indicate that people with OI generally have a significantly lower Qol than the control population. Further qualitative evaluation of Qol and its influencers is important for future management.

Background: Osteogenesis Imperfecta (OI) is characterized by bone fragility, and features such as blue sclerae, dentinogenesis imperfecta, hearing loss, ligamentous laxity and short stature can be present. It has long been assumed that the functional ability and quality of life of patients with OI depends primarily on the severity of skeletal deformities. However, fatigue is often mentioned in clinic by patients with all types of OI as an important modifier of their quality of life and does not always seem to be related to their functional ability. The aim of this study is to investigate whether adults with Osteogenesis Imperfecta are significantly more fatigued than the normal population. Methods: The Fatigue Severity Scale (FSS) was distributed by mobile phone application among 151 adult patients with different OI types. Results of the FSS in the OI group were compared with two control populations from America (n = 20) and the Netherlands (n = 113). Results: Ninety-nine patients (OI type 1 (n = 72), OI type 3 (n = 13), OI type 4 (n = 14) completed the FSS questionnaire. The mean FSS score of this cohort was 4.4 and significantly higher than the control populations (2.3/ 2.9). 65% of our cohort reported at least moderate fatigue compared with 2 control populations from America and the Netherlands. Conclusion: Fatigue in patients with OI is a frequently encountered problem in our expert clinic but research into this topic is sparse. This pilot study is the largest study to date investigating fatigue in patients with OI and results have been compared with two control groups. The mean FSS score of 4.4 in the OI group indicates that people with OI are generally significantly more fatigued than the control population. Further evaluation of fatigue and its influencers in a larger group of OI patients is important for future management.

The SRiT appears to be a feasible, safe, and reproducible maximal field test in youth with OI using wheelchairs at least for long distances. This field test might be useful to provide an indication of physical fitness and to assess the efficacy of interventions on physical fitness in these patients.

Osteogenesis imperfecta (OI) is characterized by susceptibility to bone fractures. Other symptoms, such as easy bruising and bleeding complications during surgery necessitating transfusions, have also been reported. The aim of the cross-sectional pilot study was to assess the bleeding and bruising tendency in OI patients and to screen for possible underlying haematological disorders. Bleeding tendency was investigated using the International Society on Thrombosis and Haemostasis bleeding assessment tool (ISTH-BAT) in 22 adult OI patients. Laboratory testing was performed to investigate for bleeding disorders or abnormal coagulation. Four patients [OI type 1(n = 3), OI type 4(n = 1)] had a bleeding score (BS) fitting with a bleeding tendency, but without test results pointing to a coagulopathy. Two patients [OI type 1(n = 1), OI type 3 (n = 1)] without a bleeding tendency according to the BS had increased fibrinolysis. This is the second largest study to date addressing bleeding tendency in OI and the first study to use ISTH-BAT and elaborate laboratory testing for coagulopathies. Four patients had an increased bleeding tendency. However, laboratory testing demonstrated no bleeding disorder or abnormal coagulation. Increased fibrinolysis was demonstrated in two patients without bleeding tendency on BS. Vascular fragility as a cause of bleeding tendency in OI has been suggested earlier. Further research on bleeding tendency in OI is important.

Purpose Osteogenesis Imperfecta (OI) is a rare group of congenital genetic disorders that consists of a collagen synthesis defect. The most severe phenotype is type III OI. Characterized by progressive bone deformity, fragility and pulmonary impairment, causing significant morbidity and mortality. Also, multilevel spine deformities are observed, such as scoliosis. The literature on the pathophysiology of pulmonary impairment in relation to scoliosis in these patients is scarce and conflicting. This study aims to determine the prevalence of scoliosis and its relation to pulmonary function in type III OI patients. Methods This retrospective cohort study took place between April 2020 and November 2021. Forty-two patients with type III OI were included. Anterior–posterior spine radiographs were evaluated for scoliosis. Pulmonary function was assessed using spirometry and partial pressure of carbon dioxide. Results All 42 patients had scoliosis, with a mean curve of 66° (95% CI of range). Vital lung capacity was decreased, compared to a non-OI population (mean 1.57 L). This was correlated to the degree of scoliosis (st. β − 0.40, P = 0.03), especially in increasing thoracic curves. Restrictive lung pathophysiology was shown in our study population with a mean FEV1/FVC ratio of 0.85. Conclusions Increasing thoracic scoliosis was correlated with decreased vital lung capacity in our study population of type III OI patients. High FEV1/FVC ratios found in this study population show restrictive lung pathophysiology. Therefore, it is plausible that the pulmonary impairment found in type III OI patients is a combined issue, partly associated to scoliosis and partly intrinsic to OI.