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Long-term follow-up in osteogenesis imperfecta type VI

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Abstract

Summary

This retrospective study on long-term outcomes in osteogenesis imperfecta type VI found that patients who received intravenous bisphosphonate treatment had an increase in lumbar spine areal bone mineral density, a higher final height z-score, and some reshaping of vertebral bodies.

Introduction

Osteogenesis imperfecta (OI) type VI is an ultra-rare bone fragility disorder caused by recessive mutations in SERPINF1. Here, we describe long-term outcomes in OI type VI and compare the clinical phenotypes caused by different types of SERPINF1 mutations.

Methods

This study includes a retrospective chart review of 13 individuals with OI type VI.

Results

In the absence of therapy, lumbar spine areal bone mineral density (BMD) did not increase during childhood and longitudinal growth seemed to stall after the age of 6 to 8 years. The phenotype was similar between individuals with different types of SERPINF1 mutations. Intravenous bisphosphonate treatment was associated with an increase in lumbar spine areal BMD and some reshaping of compressed vertebral bodies. Patients who had started bisphosphonate treatment early (before the age of 6 years) were taller than patients who had received bisphosphonate treatment later during their growing years. Lower extremity fractures were frequent despite bisphosphonate treatment and scoliosis was present in all patients who had reached the final height. Most patients had restricted mobility. In four patients, intravenous bisphosphonate treatment was eventually substituted by subcutaneous injections of denosumab, without clear changes in the clinical picture.

Conclusions

Patients with OI type VI who received intravenous bisphosphonate treatment during growth had an increase in lumbar spine areal BMD, a higher final height z-score, and presented some reshaping of vertebral bodies. More effective treatment modalities are clearly required in OI type VI.

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Acknowledgments

We thank Mark Lepik for the preparation of the figures. The study was supported by the Shriners of North America.

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Authors and Affiliations

  1. Shriners Hospital for Children and McGill University, 1003 Boulevard Decarie, Montreal, Québec, H4A 0A9, Canada

    P. Trejo, T. Palomo, K. Montpetit, F. Fassier, A. Sato, F. H. Glorieux & F. Rauch

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  1. P. Trejo
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  2. T. Palomo
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  3. K. Montpetit
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  4. F. Fassier
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  5. A. Sato
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  6. F. H. Glorieux
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  7. F. Rauch
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Corresponding author

Correspondence to F. Rauch.

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Conflicts of interest

The authors state that they have the following disclosures:

Pamela Trejo: None

Telma Palomo: None

Kathleen Montpetit: None

François Fassier: Péga Médical: Royalties

Atsuko Sato: None

Francis H. Glorieux: Novartis and Mereo Biopharma: Consulting fees, Amgen: Research grants

Frank Rauch: Ultragenyx Inc.: Study grant to institution; Alexion Inc.: Study grant to institution

Additional information

This study was supported by the Shriners of North America.

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Trejo, P., Palomo, T., Montpetit, K. et al. Long-term follow-up in osteogenesis imperfecta type VI. Osteoporos Int 28, 2975–2983 (2017). https://doi.org/10.1007/s00198-017-4141-x

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  • DOI: https://doi.org/10.1007/s00198-017-4141-x

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