Managing the patient with  osteogenesis imperfecta: a multidisciplinary approach

Marr, Caroline; Seasman, Alison; Bishop, Nick

doi:10.2147/jmdh.s113483

Cited by 75 publications

(69 citation statements)

References 71 publications

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“…This review will mainly focus on options for medical management, but it is important to point out that optimal management utilizes a multidisciplinary team (MDT) approach (19). There isn't a strong evidence base for this in the sense that the efficacy of individual components hasn't been tested in randomized clinical trials but clinical experience suggests that the MDT approach is important for the management of OI.…”

Section: Overall Management Strategy In Osteogenesis Imperfectamentioning

confidence: 99%

“…The input of other health care professionals including clinical psychologists, speech and language therapists, dieticians, and social workers all play an important role in the multidisciplinary team (19). The orthopedic surgeon also plays a critical role in OI management, not only in the management of fractures, but also in performing prophylactic surgery to both prevent and correct deformities.…”

Section: Other Health Care Professionalsmentioning

confidence: 99%

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Management of Osteogenesis Imperfecta

Ralston

Gaston

2020

Front. Endocrinol.

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Osteogenesis imperfecta (OI) is the term used to describe a group of rare inherited skeletal disorders characterized by a greatly increased risk of fragility fractures (1). Mutations in several genes can cause OI but the condition is most commonly caused by mutations of COLIA1 or COL1A2 resulting in the production of collagen which is abnormal or present in reduced amounts. Fractures in OI are particularly common during childhood but the elevated fracture risk continues throughout life. Bone mineral density (BMD) can be reduced in OI but the magnitude of increase in fracture risk is far greater than can be accounted for by low BMD, highlighting that a key mechanism of bone fragility is reduced bone quality due to defects of bone matrix and mineralization. A multidisciplinary approach is needed to optimize management of OI, with input from physicians, orthopedic surgeons, physiotherapists, occupational therapists, and other allied health professionals. Orthopedic surgery plays a key role both in the fixation of fractures and in the correction of limb deformities. Bisphosphonates have been widely used in the treatment of children and adults with OI. Although there is good evidence that they increase BMD, it is uncertain to what extent they reduce fracture risk. Clinical trials of bone anabolic drugs such as teriparatide and inhibitors of sclerostin have also been studied; although they increase BMD, studies of these agents have not been powered to look at fracture endpoints. Various other treatment modalities including denosumab, and cell therapy have been explored but haven't gained acceptance in routine clinical practice. There have been huge advances in understanding the pathogenesis of OI but these have not been accompanied by advances in treatment. This signals need for well-designed clinical trials with fracture endpoints in OI, both with existing agents and with the newer therapeutic agents that are now starting to emerge.

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Section: Overall Management Strategy In Osteogenesis Imperfectamentioning

confidence: 99%

Section: Other Health Care Professionalsmentioning

confidence: 99%

Management of Osteogenesis Imperfecta

Ralston

Gaston

2020

Front. Endocrinol.

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“…The main goals of OI management are to decrease fracture incidence, relieve bone pain, promote mobility and growth, and definitely improve sense of well-being and quality of life. [9][10][11][12] Bisphosphonate (BP) therapy is currently the most widely investigated and used treatment for OI. 3,13 Many different compounds, dosage, and protocols have been proposed for OI patients.…”

Section: Introductionmentioning

confidence: 99%

Hypocalcemia following Neridronate Administration in Pediatric Patients with Osteogenesis Imperfecta: A Prospective Observational Study

et al. 2020

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The use of intravenous bisphosphonates has been linked to hypocalcemia both in children and adults with osteogenesis imperfecta (OI). The aims of this study were: (1) to investigate the incidence of hypocalcemia in the first 48 hours (T48) after neridronate infusion in a pediatric population with OI and (2) to assess any correlation between the baseline values of calcium, vitamin D (25-hydroxyvitamin D) and bone turnover markers, and the postinfusion calcium values. We conducted a prospective observational study on 37 pediatric patients. All patients were treated with a single infusion of neridronate at a dose of 1 to 2 mg/kg. The study provided two postinfusion reassessments: 24 hours (T24) and T48 after neridronate administration. Hypocalcemia was observed in 11% of patients at T24 and in 50% of patients at T48 from neridronate infusion. We observed a positive linear correlation between the baseline vitamin D values and postinfusion calcium values, both at baseline and at T24 and T48. Hypocalcemia was mild and asymptomatic in all cases. Postinfusion calcium levels were related to baseline vitamin D levels. Consequently, low vitamin D levels should be considered a significant risk factor for hypocalcemia and should be carefully investigated and treated before neridronate infusion.

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“…The multitude of orthopaedic and nonorthopaedic problems is usually best managed by an interdisciplinary team with OI experience. 42…”

Section: Osteogenesis Imperfectamentioning

confidence: 99%

Skeletal Dysplasias: Radiologic Approach with Common and Notable Entities

Ngo

Thapa

Otjen

et al. 2018

Semin Musculoskelet Radiol

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Skeletal dysplasia is a heterogeneous group of abnormalities affecting growth and development of bone and cartilage characterized by disproportionate shortening of the limbs and/or spine. A systematic radiographic approach combined with pertinent clinical details can help guide specific genetic testing and treatment. We provide a discussion and examples of a few common and notable skeletal dysplasias to help familiarize general, pediatric, and musculoskeletal radiologists who do not commonly encounter children with these entities in their daily practices.

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Managing the patient with osteogenesis imperfecta: a multidisciplinary approach

Cited by 75 publications

References 71 publications

Management of Osteogenesis Imperfecta

Management of Osteogenesis Imperfecta

Hypocalcemia following Neridronate Administration in Pediatric Patients with Osteogenesis Imperfecta: A Prospective Observational Study

Skeletal Dysplasias: Radiologic Approach with Common and Notable Entities

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