Fatigue in adults with Osteogenesis Imperfecta.

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.

Adults with osteogenesis imperfecta: Clinical characteristics of 151 patients with a focus on bisphosphonate use and bone density measurements.

An expert center for adults with Osteogenesis Imperfecta (OI) has been founded at the Isala Hospital in Zwolle, the Netherlands to achieve optimal care for adults with OI. Clinical data such as patient history, Dual Energy X-ray Absorptiometry measurements and laboratory findings are collected with patient consent. This study provides an overview of clinical characteristics of the patients who visited the clinic during its first 5 years, a total of 151 patients. In this study, we focus on bisphosphonate use and bone density measurements at time of presentation at the expert center. As such, insight into the natural history of OI in adults will be increased. Analysing the data of a large group of adults with this rare disorder within a national expert center will allow detailed exploration of the course of OI over time.

Prevalence of low back pain after transfemoral amputation related to physical activity and other prosthesis-related parameters.

BACKGROUND: Although clinical experience indicates that prolonged use of a prosthesis after transfemoral amputation (TFA) is related to a higher incidence of low back pain (LBP), few data are available to substantiate this impression. Therefore, in a TFA population, we investigated the prevalence of LBP and its relationship with years since amputation, as well as the level of daily physical activity and other prosthesis-related parameters. METHOD: Questionnaires were sent to 490 subjects with TFA. Of these, 240 questionnaires could be used for analysis. RESULTS: Trauma and tumours were the most frequent reasons for amputation. The majority of the study group was aged under 30 years at the time of surgery, had been using a prosthesis more than 10 years, and had a moderately active life. Serious LBP (i.e. frequent or permanent LBP) was reported in 26.3% of the participants. No relationship was found between LBP and years since amputation or physical activity. CONCLUSION: The data show that the prevalence of LBP in our study group is higher than in the general population, and higher in the female than in the male participants. The initial assumption that there is a higher and increasing length of time since amputation and physical activity level is not confirmed in this study.