Adults with osteogenesis imperfecta: Clinical characteristics of 151 patients with a focus on bisphosphonate use and bone density measurements

Abstract

An expert center for adults with Osteogenesis Imperfecta (OI) has been founded at the Isala Hospital in Zwolle, the Netherlands to achieve optimal care for adults with OI. Clinical data such as patient history, Dual Energy X-ray Absorptiometry measurements and laboratory findings are collected with patient consent. This study provides an overview of clinical characteristics of the patients who visited the clinic during its first 5 years, a total of 151 patients. In this study, we focus on bisphosphonate use and bone density measurements at time of presentation at the expert center. As such, insight into the natural history of OI in adults will be increased. Analysing the data of a large group of adults with this rare disorder within a national expert center will allow detailed exploration of the course of OI over time.

Fatigue in adults with Osteogenesis Imperfecta

“…The mean age was 45 (age range 19-80 years). These distributions are comparable to our total OI population [16].…”

Functional outcomes of an adult with osteogenesis imperfecta after rehabilitation post bilateral Girdlestone procedure

“…Prognoses may vary depending on the type of OI, and much of the literature on OI in adults have been viewed through the lens of genotypic and phenotypic correlations. 1 With the advent of bisphosphonate therapy, recent studies have also highlighted its value in improving OI outcomes. 2 Rehabilitation care, although recognised as important, has been explored more extensively on its effects in children than in adults.…”

Brittle Bone Brothers: Osteogenesis Imperfecta Conventional Serial Case

“…Bisphosphonate treatment with cyclic intravenous Pamidronate given in infancy proved to help increase bone density and reduce fractures. (Scheres, et al, 2018) In these cases of the brothers, their ages range from 40-42 years old; they have a small stature, normal sclera, two patients have normal teeth and one with dentinogenesis imperfecta (DI). These brothers generally have the same type of OI which is OI type IV but different subtype, IV A without DI and IV B with DI.…”

“…These brothers generally have the same type of OI which is OI type IV but different subtype, IV A without DI and IV B with DI. (Van Dijk, & Sillence, 2014) (Scheres, et al, 2018) Genetically categorized as group A by Forlino and Marini (Forlino & Marini, 2016), type IV OI resulted in COL1A 1 or 2 mutation and genetic workup must be done to determine which one. Unfortunately, genetic workup was not administered to all patients.…”