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

H K Datta; J Vila; S P Tuck

doi:10.1007/s00198-021-05933-3

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

Osteoporos Int. 2021 Oct;32(10):2105-2109. doi: 10.1007/s00198-021-05933-3. Epub 2021 Apr 2.

Authors

H K Datta¹, J Vila², S P Tuck^{3

4}

Affiliations

¹ Musculoskeletal Group, Department of Rheumatology, James Cook Blood Sciences (pathology), James Cook University Hospital, Middlesbrough, TS4 3BW, UK. harish.datta1@nhs.net.
² Institute of Cellular Medicine, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.
³ Institute of Cellular Medicine, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK. stephen.tuck@nhs.net.
⁴ Department of Rheumatology (S.P.T.), James Cook University Hospital, Middlesbrough, TS4 3BW, UK. stephen.tuck@nhs.net.

PMID: 33796912
DOI: 10.1007/s00198-021-05933-3

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.

Keywords: COL1A1 variant; Familial osteoporosis; Treatment.

MeSH terms

Adult
Bone and Bones
Collagen Type I / genetics
Humans
Mutation
Osteogenesis Imperfecta* / drug therapy
Osteogenesis Imperfecta* / genetics
Osteoporosis* / drug therapy
Osteoporosis* / genetics

Substances

Collagen Type I