Bone mass density, bone metabolism, lifetime fractures and bisphosphonate use in an adult Osteogenesis Imperfecta population: an explorative study.

Scheres, L.J.J. (2014) Bone mass density, bone metabolism, lifetime fractures and bisphosphonate use in an adult Osteogenesis Imperfecta population: an explorative study. thesis, Medicine.

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Abstract

Introduction: Osteogenesis Imperfecta (OI) is a disorder characterized by a genetic defect of the type I collagen. The disease manifests with brittle bones, short stature, low bone mass and increased fracture rates. As most studies are conducted in children with OI, little is known about OI in adults. Many adult patients use bisphosphonates (BP’s), however effectiveness in terms of fracture reduction has not been demonstrated. This is of great importance as evidence of long term side effects of BP’s such as exhaustion fractures and osteonecrosis of the jaw is accumulating. Therefore this study explores clinical features, bone mass density (BMD), bone turnover, fracture rates and BP use from one of the largest adult OI populations ever documented. Methods & materials: Over 180 OI patients have visited our outpatient-clinic for adults with OI. At At their first visit patients undergo a thorough review of their disease history, an orthopedic examination is completed, laboratory tests are done and a dual-energy X-ray absorptiometry (DXA)-scan is performed. The obtained data from all adult OI patients (age ≥ 18 years) with a definite (clinical or genetic analyses based) diagnosis were included in this study. This yielded data from 149 patients (106 type I, 20 type III and 23 type IV). Results: There was a discrepancy among BMD measured at different regions of the body by means of DXA. In type I 48% had osteoporotic T-scores of the lumbar spine opposed to 10.5% for the hip. This was 100% for the lumbar spine and 40% for the hip for type III. And 50% for the lumbar spine and 15.8% for the hip in type IV. Next to this, 32% of all patients had a vitamin D deficiency at their first visit. Furthermore, fractions of osteoporotic T-scores of the hip were the same for all type I patients, regardless of their use of BP's (never, in the past or at the time of their first visit). For type IV there was an association between a higher BMD of the hip and lower lifetime fractures, this was only a marginal association in type I. Additionally, there was no increase in the total mean fractures of type adult I patients with increasing age, independently of BP use. Conclusion: The BMD measured by DXA of adult OI patients varies greatly per region of the body. The effectiveness of BP’s in terms of fracture reduction in type I adult patients is doubtful. More studies exploring factors contributing to this complex disease mechanism and the efficacy of BP’s and new treatment modalities in adult patients are needed.

Item Type:	Thesis (Thesis)
Supervisor name:	Franken, Dr. A.A.M. and Janus, Dr. A.J.M. and Isala, Zwolle
Faculty:	Medical Sciences
Date Deposited:	25 Jun 2020 10:53
Last Modified:	25 Jun 2020 10:53
URI:	https://umcg.studenttheses.ub.rug.nl/id/eprint/1435

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