Spinal Deformity, Pulmonary Compromise, and Quality of Life in Osteogenesis Imperfecta

Widmann, Roger F.; Bitan, Fabien D.; Laplaza, F. Javier; Burke, Stephen; DiMaio, Mary; Schneider, Robert

doi:10.1097/00007632-199908150-00008

Cited by 167 publications

(148 citation statements)

References 49 publications

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“…If restrictive or obstructive disease is identified, patients should be managed according to organ specific guidelines. Recent evidence suggests that pulmonary function diminishes in osteogenesis imperfecta with age and lung disease is observed in individuals without scolio sis, suggesting that the lung defect might be intrinsic to the disease and not just the consequence of scoliosis 178,180 .…”

Section: Extraskeletal Manifestationsmentioning

confidence: 99%

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Osteogenesis imperfecta

Marini

Forlino

Bächinger

et al. 2017

Nat Rev Dis Primers

545

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: Extraskeletal Manifestationsmentioning

confidence: 99%

“…The development of progressive scoliosis might lead to pulmonary complications and, in rare cases, the need for ventilation. Baseline and follow up with pulmonary function tests should be performed on all adults with osteogenesis imperfecta 178,180 .…”

Section: Adult Managementmentioning

confidence: 99%

Osteogenesis imperfecta

Marini

Forlino

Bächinger

et al. 2017

Nat Rev Dis Primers

545

582

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“…Risk of scoliosis in children with the mildest form of OI is 10-fold greater than in the general population [9] and more common even in OI types III and IV [53]. Progression of scoliosis can lead to pulmonary insufficiency [53,54]. For best results, corrective surgery through spinal fusion should be sought when curvature is below 60° [53].…”

Section: Treatmentmentioning

confidence: 99%

Effect of high-dose vitamin D supplementation on bone density in youth with osteogenesis imperfecta: A randomized controlled trial

Plante

Veilleux

Glorieux

et al. 2016

Bone

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Background Osteogenesis imperfecta (OI) is a genetic disease characterized by fragile bones and short stature. Recently, a positive association was found between serum 25‐hydroxyvitamin D (25OHD) concentrations and lumbar spine areal bone mineral density (LS‐aBMD) z‐scores in this population. Objectives: To assess whether high‐dose vitamin D supplementation (2000 IU) will result in significantly higher LS‐aBMD z‐scores after one‐year; and to evaluate the effect of vitamin D supplementation on lower limb muscle power. Results: At baseline, average serum 25OHD concentration was 65.6 nmol/L (SD 20.4) with no difference seen between treatment groups (p=0.77). Deficient serum 25OHD concentrations (<50 nmol/L) were measured in only 21% of patients at baseline. Supplementation resulted in higher serum 25OHD concentrations in almost all participants (90%) with significantly higher increases seen with 2000 IU (mean [95% C.I.] = 30.5 nmol/L [21.3; 39.6] vs 15.2 nmol/L [6.4; 24.1], p= 0.02). No significant changes were detected in BMD measurements or in lower limb muscle power between treatment groups from baseline to final visit. Conclusions Supplementation with either 400 or 2000 IU of vitamin D translates into significant increases in serum 25OHD concentrations in children with OI. However, increases in baseline serum 25OHD concentrations already within a healthy range (蠅50 nmol/L) do not translate into increases in BMD z‐scores in children with OI. This research was supported by the Shriners Hospital for Children as well as by The Network for Oral and Bone Health Research.

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“…Widmann et al found that thoracic scoliosis of more than 60°has severe adverse effects on pulmonary function in adults with osteogenesis imperfecta [22]. Therefore, data regarding fatigue and dyspnea should be carefully assessed in childhood as well, and when indicated measurements of pulmonary function should be made.…”

Section: Discussionmentioning

confidence: 99%