Treatment of osteogenesis imperfecta in adults.
BACKGROUND
Osteogenesis imperfecta (OI) is a heterogeneous rare connective tissue disorder commonly caused by mutations in the collagen type I genes. Pharmacological treatment has been most extensively studied in children, and there are only few studies comprising adult OI patients.


OBJECTIVE
i) To review the literature on the current medical management of OI in children and adults, and thereby identify unmet medical needs and ii) to present an overview of possible future treatment options.


RESULTS
Individualization and optimization of OI treatment in adults remain a challenge, because available treatments do not target the underlying collagen defect, and available literature gives weak support for treatment decisions for adult patients.


CONCLUSIONS
Bisphosphonates are still the most widely used pharmacological treatment for adult OI, but the current evidence supporting this is sparse and investigations on indications for choice and duration of treatment are needed.
Department of Medical SciencesUppsala University Hospital, Ing 40, 5tr, SE-75185 Uppsala, SwedenDepartment of Endocrinology and Internal Medicine THGAarhus University Hospital, DK-8000 Aarhus C, DenmarkScience for Life LaboratoryDepartment of Medical Sciences, Uppsala University Hospital, SE-75185 Uppsala, Sweden.
Katarina
K
Lindahl
Department of Medical SciencesUppsala University Hospital, Ing 40, 5tr, SE-75185 Uppsala, SwedenDepartment of Endocrinology and Internal Medicine THGAarhus University Hospital, DK-8000 Aarhus C, DenmarkScience for Life LaboratoryDepartment of Medical Sciences, Uppsala University Hospital, SE-75185 Uppsala, Sweden.
Bente
B
Langdahl
Department of Medical SciencesUppsala University Hospital, Ing 40, 5tr, SE-75185 Uppsala, SwedenDepartment of Endocrinology and Internal Medicine THGAarhus University Hospital, DK-8000 Aarhus C, DenmarkScience for Life LaboratoryDepartment of Medical Sciences, Uppsala University Hospital, SE-75185 Uppsala, Sweden.
Östen
Ö
Ljunggren
Department of Medical SciencesUppsala University Hospital, Ing 40, 5tr, SE-75185 Uppsala, SwedenDepartment of Endocrinology and Internal Medicine THGAarhus University Hospital, DK-8000 Aarhus C, DenmarkScience for Life LaboratoryDepartment of Medical Sciences, Uppsala University Hospital, SE-75185 Uppsala, SwedenDepartment of Medical SciencesUppsala University Hospital, Ing 40, 5tr, SE-75185 Uppsala, SwedenDepartment of Endocrinology and Internal Medicine THGAarhus University Hospital, DK-8000 Aarhus C, DenmarkScience for Life LaboratoryDepartment of Medical Sciences, Uppsala University Hospital, SE-75185 Uppsala, Sweden andreas.kindmark@medsci.uu.se.
Andreas
A
Kindmark
D000328:Adult; D000818:Animals; D015519:Bone Density; D002648:Child; D024042:Collagen Type I / Q000235:genetics; D004164:Diphosphonates / Q000627:therapeutic use*; D050723:Fractures, Bone / Q000517:prevention & control; D015316:Genetic Therapy; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000188:drug therapy*; D019379:Teriparatide / Q000627:therapeutic use
D024042:Collagen Type I; D004164:Diphosphonates; D019379:Teriparatide