Applied nutritional investigationDo patients with osteogenesis imperfecta need individualized nutritional support?
Introduction
Osteogenesis Imperfecta (OI) is a genetic disease that leads to bone fragility and decreased bone mass not secondary to any other clinical condition [1]. According to their characteristics, patients with OI can be classified in seven different subgroups [2]. Type I, the less severe form, is associated with normal or very minor height impairment, some bone fractures, and moderate scoliosis. Type III, a more severe form, is associated with a high prevalence of bone fractures and abnormalities, severe stature impairment, and scoliosis. Although pharmacologic therapy with bisphosphonates is encouraged [3], patients with OI still have increased bone pain and fractures.
An adequate dietary intake is required to increase bone health and to decrease bone fractures throughout life [4]. Given the importance of improving bone development and function in subjects with OI, nutrients related to bone health, such as calcium, vitamin D, and protein, may be relevant during the treatment of this disease. Body composition also plays an important role in bone physiology, and fat mass and lean body mass (LBM) seem to be involved [5]. However, surprisingly, there is no information regarding nutritional status, dietary intake, and body composition of patients with OI.
The aim of the present study is to evaluate the nutritional status and body composition of subjects diagnosed with OI.
Section snippets
Subjects
This was a cross-sectional study that included 26 men and women diagnosed with OI (13 diagnosed with type I and 13 diagnosed with type III) according to previously described criteria [2]. All patients were under ambulatory treatment in the Ambulatory of Bone Fragilities at the Department of Medicine, Federal University of São Paulo. All patients were using the bisphosphonate pamidronate. From the time of OI diagnosis until the time that subjects with OI were enrolled in the study, the number of
Anthropometry and body composition
Anthropometry and body composition measurements of controls and patients with OI are presented in Table 1. The difference between the height and length observed in patients with type III OI was related to the severity of the disease. Only four patients with type III were able to stand in the upright position. Therefore, because of the high prevalence of bone fractures and the severe stature impairment and scoliosis, the other nine patients with OI had only the body length measured and not
Discussion
The results of the present study highlighted body composition as an important risk factor for bone fracture in patients diagnosed with OI. A possible limitation of the present study is the small number of patients with OI evaluated. However, to the best of our knowledge, this is the first study in which a nutritional evaluation was performed in subjects with OI. An important observation regarding a modifiable risk factor, i.e., improvement in diet and body composition, was demonstrated.
Body
Conclusion
Body composition is a risk factor for bone fractures in subjects with OI. Individualized nutritional support is recommended not only to improve body composition but also to potentiate pharmacologic and physical therapies.
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Cited by (46)
Imaging in osteogenesis imperfecta: Where we are and where we are going
2024, European Journal of Medical GeneticsA scoping review of nutrition issues and management strategies in individuals with skeletal dysplasia
2023, Genetics in MedicineOsteoarthritis in osteogenesis imperfecta: A nationwide register-based cohort study
2022, BoneCitation Excerpt :More patients with OI than individuals in the reference population were registered with an obesity diagnosis; this could indicate a less physically active lifestyle in OI and may also in part be attributable to lower height. Certainly, a Brazilian study found that patients with OI had lower lean body mass, higher BMI and high body fat percent were seen in 42% of the patients with OI type 1, and 83% of the patients with OI type 3 [41]. However, the risk of OA of the upper limb joints was higher in the OI cohort compared to the reference population indicating that obesity alone cannot adequately explain the increased risk of OA in OI.
Evaluation of Body Composition in Paediatric Osteogenesis Imperfecta
2022, Journal of Clinical DensitometryCitation Excerpt :We also highlight that performance of universally accepted definitions of obesity and slimness do not perform well in this population and we propose new optimal cut-offs. Low lean mass has previously been reported as a risk factor for fracture in children with OI (18). Both OI types in our cohort had significantly lower LMI compared to a healthy age and sex matched control population.
Male but not female mice with severe osteogenesis imperfecta are partially protected from high-fat diet-induced obesity
2021, Molecular Genetics and MetabolismCitation Excerpt :Clinically, OI's skeletal involvement ranges from a mild predisposition to fractures to severe deformities or even perinatal death [3]. In addition to bone phenotype, it has been reported that primarily children and adolescent patients with OI display low muscle mass and function [4–6], normal or increased fat mass [7–9], and are in a form of “hypermetabolic” state [10–12]. In a previous study using a mouse model mimicking dominant moderate-to-severe OI, the Col1a1Jrt/+ mouse model, we found a distinctive sex-dependent metabolic phenotype with increased insulin levels in males, improved glucose tolerance in females, lower levels of random glucose and low adiposity in both sexes, and increased energy expenditure [5,6,13].
Mobility in osteogenesis imperfecta: a multicenter North American study
2019, Genetics in Medicine
The present study was supported by FAPESP (grant 08/51095-3). J. P. R. was supported by a fellowship from FAPESP.