Improvement in Bone Mineral Density and Architecture in a Patient with Gaucher Disease Using Teriparatide

Khan, Aneal; Hanley, David A.; McNeil, Colleen; Boyd, Steven K.

doi:10.1007/8904_2015_407

Cited by 8 publications

(6 citation statements)

References 13 publications

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“…Osteopetrosis density measurement were elevated in comparison to reference data. These findings are consistent with what has been previously reported in examining bone microarchitecture in sub-types of IBEMs using HR-pQCT [14][15][16][17][18][19][20][21]. Both cortical and trabecular bone play a crucial role in maintaining bone integrity and deficits in each have been shown to increase fracture risk [24,36,37].…”

Section: Discussionsupporting

confidence: 91%

“…To date, single case reports and case studies on individual IBEMs have been published examining bone microarchitecture using HR-pQCT. We and others have reported impaired bone density and microarchitecture when compared to healthy controls, with the exception of osteopetrosis, where bone density and microarchitecture is significantly elevated [14][15][16][17][18][19][20][21].…”

Section: Introductionmentioning

confidence: 57%

“…In addition to defining microarchitectural characteristics, bone strength was estimated by employing finite element methods and quantifying failure load from compressive loading simulations. IBEMs where HR-pQCT has been previously implemented to investigate bone quality include Gaucher disease, Pompe disease, Fabry disease, HPP, osteopetrosis, and osteogenesis imperfecta [14][15][16][17][18][19][20][21]. However, this is the first study to examine bone density and microarchitecture in a wide range of IBEMs, as well as employ finite element methods to predict bone strength.…”

Section: Discussionmentioning

confidence: 99%

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Spectrum of microarchitectural bone disease in inborn errors of metabolism: a cross-sectional, observational study

Sidhu

Ali

Burt

et al. 2020

Orphanet J Rare Dis

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Background Patients diagnosed with inborn errors of metabolism (IBEM) often present with compromised bone health leading to low bone density, bone pain, fractures, and short stature. Dual-energy X-ray absorptiometry (DXA) is the current gold standard for clinical assessment of bone in the general population and has been adopted for monitoring bone density in IBEM patients. However, IBEM patients are at greater risk for scoliosis, short stature and often have orthopedic hardware at standard DXA scan sites, limiting its use in these patients. Furthermore, DXA is limited to measuring areal bone mineral density (BMD), and does not provide information on microarchitecture. Methods In this study, microarchitecture was investigated in IBEM patients (n = 101) using a new three-dimensional imaging technology high-resolution peripheral quantitative computed tomography (HR-pQCT) which scans at the distal radius and distal tibia. Volumetric BMD and bone microarchitecture were computed and compared amongst the different IBEMs. For IBEM patients over 16 years-old (n = 67), HR-pQCT reference data was available and Z-scores were calculated. Results Cortical bone density was significantly lower in IBEMs associated with decreased bone mass when compared to lysosomal storage disorders (LSD) with no primary skeletal pathology at both the radius and tibia. Cortical thickness was also significantly lower in these disorders when compared to LSD with no primary skeletal pathology at the radius. Cortical porosity was significantly greater in hypophosphatasia when compared to all other IBEM subtypes. Conclusion We demonstrated compromised bone microarchitecture in IBEMs where there is primary involvement of the skeleton, as well as IBEMs where skeletal complications are a secondary outcome. In conclusion, our findings suggest HR-pQCT may serve as a valuable tool to monitor skeletal disease in the IBEM population, and provides insight to the greatly varying bone phenotype for this cohort that can be used for clinical monitoring and the assessment of response to therapeutic interventions.

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Section: Discussionsupporting

confidence: 91%

Section: Introductionmentioning

confidence: 57%

Section: Discussionmentioning

confidence: 99%

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Spectrum of microarchitectural bone disease in inborn errors of metabolism: a cross-sectional, observational study

Sidhu

Ali

Burt

et al. 2020

Orphanet J Rare Dis

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“…Due to its increased surface area, trabecular bone remodeling is evident sooner than cortical bone. Previous work has demonstrated increased trabeculae thickness, lower trabeculae separation, and increased BMD and trabeculae density in GD patients following ERT (Khan et al, 2015). In the current study, GD patients treated with ERT also demonstrated higher trabeculae thickness, lower trabeculae separation and higher trabeculae density compared to HC individuals.…”

Section: Discussionsupporting

confidence: 68%

Machine learning based analytics of micro-MRI trabecular bone microarchitecture and texture in type 1 Gaucher disease

Sharma

Robertson

Laney

et al. 2016

Journal of Biomechanics

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“…Journal Pre-proof [115]. Another proposal is a combination therapy with romosozumab, a monoclonal antibody that binds sclerostin, leading to its dual effect of increasing bone formation and decreasing bone resorption [116].…”

Section: Effect Of Therapies On Skeletal Manifestations In Gaucher Patientsmentioning

confidence: 99%

Unraveling the mystery of Gaucher bone density pathophysiology

Rozenfeld¹,

Crivaro²,

Ormazabal³

et al. 2021

Molecular Genetics and Metabolism

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Improvement in Bone Mineral Density and Architecture in a Patient with Gaucher Disease Using Teriparatide

Abstract: Gaucher disease is an autosomal recessive lysosomal storage disorder caused by deficiency of the enzyme acid beta-glucosidase (glucocerebrosidase)

Cited by 8 publications

References 13 publications

Spectrum of microarchitectural bone disease in inborn errors of metabolism: a cross-sectional, observational study

Spectrum of microarchitectural bone disease in inborn errors of metabolism: a cross-sectional, observational study

Machine learning based analytics of micro-MRI trabecular bone microarchitecture and texture in type 1 Gaucher disease

Unraveling the mystery of Gaucher bone density pathophysiology

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