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Long-term evaluation of anabolic and anti-resorptive agents in adults with familial osteoporosis due to pro205ala variant of the col1a1 gene

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Abstract

Introduction

Osteogenesis imperfecta (OI) is a rare disorder with variable clinical presentation, commonly caused by mutations in collagen type I genes. OI affects both bone quality and density resulting in fractures and deformity. The effectiveness of bisphosphonates in the treatment of adult OI remains unclear. Small, randomised trials have shown increases in BMD, but without fracture rate reduction.

Aim

We report the results of BMD of a family harbouring C 613 C>G substitution in exon 8 of Col1A1 gene leading to Pro205Ala missense variant, as well as the results of long term treatment of a mother and daughter with this mutation.

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Authors and Affiliations

  1. Musculoskeletal Group, Department of Rheumatology, James Cook Blood Sciences (pathology), James Cook University Hospital, Middlesbrough, TS4 3BW, UK

    H.K. Datta

  2. Institute of Cellular Medicine, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK

    J. Vila & S.P. Tuck

  3. Department of Rheumatology (S.P.T.), James Cook University Hospital, Middlesbrough, TS4 3BW, UK

    S.P. Tuck

Authors
  1. H.K. Datta
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  2. J. Vila
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  3. S.P. Tuck
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Correspondence to H.K. Datta or S.P. Tuck.

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Datta, H., Vila, J. & Tuck, S. Long-term evaluation of anabolic and anti-resorptive agents in adults with familial osteoporosis due to pro205ala variant of the col1a1 gene. Osteoporos Int 32, 2105–2109 (2021). https://doi.org/10.1007/s00198-021-05933-3

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  • DOI: https://doi.org/10.1007/s00198-021-05933-3

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