THERAPY OF ENDOCRINE DISEASE: Treatment of osteogenesis imperfecta in adults

Lindahl, Karin; Langdahl, Bente; Ljunggren, Östen; Kindmark, Andreas

doi:10.1530/eje-14-0017

Cited by 43 publications

(34 citation statements)

References 107 publications

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“…Similar to patients with osteo porosis, adequate intake of calcium, maintenance of appropriate vitamin D levels and continued mobility are simple adjuncts to other medical interventions 201,202 . Pharmacological treatment should be individualized for each patient based on the type of osteogenesis imperfecta, the incidence of fractures, the degree of osteoporosis based on imaging studies, and the absence or presence of menopause 200,203 . Joint replacement might be required, and is most successful with custom joints based on detailed imaging compared with standard shaped joints.…”

Section: Adult Managementmentioning

confidence: 99%

Osteogenesis imperfecta

Marini

Forlino

Bächinger

et al. 2017

Nat Rev Dis Primers

577

582

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| Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure. In the past decade, (mostly) recessive, dominant and X-linked defects in a wide variety of genes encoding proteins involved in type I collagen synthesis, processing, secretion and post-translational modification, as well as in proteins that regulate the differentiation and activity of bone-forming cells have been shown to cause osteogenesis imperfecta. The large number of causative genes has complicated the classic classification of the disease, and although a new genetic classification system is widely used, it is still debated. Phenotypic manifestations in many organs, in addition to bone, are reported, such as abnormalities in the cardiovascular and pulmonary systems, skin fragility, muscle weakness, hearing loss and dentinogenesis imperfecta. Management involves surgical and medical treatment of skeletal abnormalities, and treatment of other complications. More innovative approaches based on gene and cell therapy, and signalling pathway alterations, are under investigation. NATURE REVIEWS | DISEASE PRIMERS VOLUME 3 | ARTICLE NUMBER 17052 | 1 PRIMER © 2 0 1 7 M a c m i l l a n P u b l i s h e r s L i m i t e d , p a r t o f S p r i n g e r N a t u r e . A l l r i g h t s r e s e r v e d .In this Primer, we provide an overview of epidemio logy, genetics and pathophysiology of osteogenesis imperfecta, as well as diagnosis and management. EpidemiologyStudies from Europe and the United States have found a birth prevalence of osteogenesis imperfecta of 0.3-0.7 per 10,000 births 5,6 . These birth cohort analyses reflect more severe types of osteogenesis imperfecta and do not include more subtle types that become apparent after birth. A population based study that used the Danish National Patient Register found an annual incidence of osteogenesis imperfecta of 1.5 per 10,000 births between 1997 and 2013 (REF. 7). Population surveys in countries with comprehensive medical databases, such as Finland, estimated a prevalence of about 0.5 per 10,000 individ uals 8 , with most having phenotypically milder osteo genesis imperfecta type I and type IV (BOX 1; TABLE 1). Because these birth cohort and population surveys are based on clinical findings and tend to find mutu ally exclusive populations, a reasonable estimate of the incidence of osteogenesis imperfecta is about 1 per 10,000 individuals. Most patients are heterozygous for mutations in COL1A1 or COL1A2. No difference in the prevalence between sexes was reported.Approximately 90% of the 3,000 individuals whose mutations ha...

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Section: Adult Managementmentioning

confidence: 99%

Osteogenesis imperfecta

Marini

Forlino

Bächinger

et al. 2017

Nat Rev Dis Primers

577

582

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“…Clinical treatments for OI include intramedullary rodding of long bones, surgical correction of scoliosis, physical therapy, and treatment with antiresorptive agents or other pharmaceuticals for variable periods of time, depending on the severity of the condition [25,30]. Rodding and physical therapy lessen skeletal deformities, and antiresorptive agents increase bone mineral density.…”

Section: Introductionmentioning

confidence: 99%

Are Changes in Composition in Response to Treatment of a Mouse Model of Osteogenesis Imperfecta Sex-dependent?

Boskey

Marino

Spevak

et al. 2015

Clinical Orthopaedics &Amp; Related Research

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Background Osteogenesis imperfecta (OI) is a genetic disease characterized by skeletal fragility and deformity. There is extensive debate regarding treatment options in adults with OI. Antiresorptive treatment reduces the number of fractures in growing oim/oim mice, an animal model that reproducibly mimics the moderate-to-severe form of OI in humans. Effects of long-term treatments with antiresorptive agents, considered for treatment of older patients with OI with similar presentation (moderate-tosevere OI) are, to date, unknown. Questions/purposes Fourier transform infrared (FTIR) imaging, which produces a map of the spatial variation in chemical composition in thin sections of bone, was used to address the following questions: (1) do oim/oim mice show a sex dependence in compositional properties at 6.5 months of age; (2) is there a sex-dependent response to treatment with antiresorptive agents used in the treatment of OI in humans; and (3) are any compositional parameters in oim/oim mice corrected to wild-type (WT) values after treatment? Methods FTIR imaging data were collected from femurs from four to five mice per sex per genotype per treatment. Treatments were 24 weeks of saline, alendronate, or RANKFc; and 12 weeks of saline + 12 weeks RANK-Fc and 12 weeks of alendronate + RANK-Fc. FTIR imaging compositional parameters measured in cortical and cancellous bones were mineral-to-matrix ratio, carbonate-to-mineral ratio, crystal size/perfection, acid phosphate substitution, collagen maturity, and their respective distributions (heterogeneities). Because of the small sample size, nonparametric statistics (Mann-Whitney U-and Kruskal-Wallis tests with Bonferroni correction) were used to compare saline-treated male and female mice of different genotypes and treatment effects by sex and genotype, respectively. Statistical significance was defined as p \ 0.05.One or more of the authors (CLR) has received research funding from Amgen (Thousand Oaks, CA, USA) in partial support of this study in an amount less than USD 10,000. One or more of the authors (ALB) owns stock in Amgen (Thousand Oaks, CA) in an amount less than USD 10,000 and in Merck (Kenilworth, NJ, USA) in an amount less than USD 10,000. Results At 6.5 months, saline-treated male cortical oim/ oim bone had increased mineral-to-matrix ratio (p = 0.016), increased acid phosphate substitution (p = 0.032), and decreased carbonate-to-mineral ratio (p = 0.016) relative to WT. Cancellous bone in male oim/oim also had increased mineral-to-matrix ratio (p = 0.016) relative to male WT. Female oim/oim mouse bone composition for all cortical and cancellous bone parameters was comparable to WT (p [ 0.05). Only the female WT mice showed a response of mean compositional properties to treatment, increasing mineral-to-matrix after RANK-Fc treatment in cancellous bone (p = 0.036) compared with saline-treated mice. Male oim/oim increased mineral-to-matrix cortical and cancellous bone heterogeneity in response to all long-term treatments except for saline + RANK-Fc (p...

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“…Both oral and intravenous form have been shown to increase BMD in both children and adults, but the effects on fracture incidence remain unclear [17,18]. Teriparatide and RANKL inhibitor have similar results and further investigation is also needed [18]. Nutritional support including calcium and vitamin D is recommended to potentiate bisphosphonate therapies [19].…”

Section: Discussionmentioning

confidence: 99%

The Diagnosis of Type I Osteogenesis Imperfecta in A Patient with Acute Spinal Burst Fracture after Low-Energy Trauma and Its Operative Treatment: A Case Report

Kang¹

2017

Rheumatology

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Objective: To report a unique case of operatively and nonoperatively treated burst fractures of thoracolumbar spine in a single patient with type I osteogenesis imperfecta (OI), who previously had not been diagnosed as OI. Summary of background data:OI is a genetic disorder that causes bone fragility. Although spinal fractures may commonly occur in these subgroup of patients, there have been only a few case report of thoracolumbar burst fractures. And to our knowledge, there has not been reported case of operative treatment for acute burst fracture of thoracolumbar spine in a patient with OI, especially in type I. Methods:We report a case of 25-year-old woman who suffered unstable burst fracture of L1 after minor fall from a chair. The patient was treated operatively (anterior corpectomy, instrumentation and interbody fusion). She suffered stable burst fracture on T11 after a slip down in 10 months after the surgery, and was treated nonoperatively. Results:The patient was diagnosed as type I OI, based on the relatively minor nature of the trauma and blue sclerae and histories of multiple fractures of her and her father. Successful bony union and good spinal alignment were achieved. Conclusion:Anterior corpectomy, instrumentation and interbody fusion may be a feasible option for treatment of unstable burst fractures, even though the patients have any pathologic cause on their fractures. And any patient manifesting severe injuries that are caused by relatively minor trauma may have an underlying pathologic cause, including OI. They should be evaluated thoroughly to determine other cause and to be treated appropriately.

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THERAPY OF ENDOCRINE DISEASE: Treatment of osteogenesis imperfecta in adults

Cited by 43 publications

References 107 publications

Osteogenesis imperfecta

Osteogenesis imperfecta

Are Changes in Composition in Response to Treatment of a Mouse Model of Osteogenesis Imperfecta Sex-dependent?

The Diagnosis of Type I Osteogenesis Imperfecta in A Patient with Acute Spinal Burst Fracture after Low-Energy Trauma and Its Operative Treatment: A Case Report

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