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Bone health in Zellweger spectrum disorders

(2016) Abdulrahman, H.

Introduction: Zellweger spectrum disorders (ZSD) are a group of genetic metabolic disorders, caused by dysfunctional peroxisomes. Patients with a ZSD are often characterized by their heterogeneity in clinical presentation. Studies from the past decades have improved our knowledge about the (dys)function of peroxisomes, and therefore, the pathophysiology of ZSDs. However, little is known about bone health in patients with a ZSD. Clinical experience suspects that patients might have a greater risk of fractures, and that these fractures tend to occur under doubtful traumatic circumstances. This study performed a retrospective analysis of the bone health in patients with a ZSD, with particular interest for the fracture incidence. Methods: 45 patients with a ZSD were sent a question form that asked whether they had experienced a fracture in the past, and if so, under which circumstances the fracture(s) occurred. Retrospective clinical and laboratory data informative for bone health were collected from the medical files and analyzed statistically.
Results: The fracture incidence in our cohort of ZSD patients proved to be significantly higher compared to healthy peers, with a person-years incidence of 0.0342 in our ZSD cohort versus a person-year incidence of 0,0132 in healthy peers (p= 0,00164). This finding was supported by a low bone mineral density (BMD) that was described in some patients. Conclusion: The patients in our cohort had a significantly higher fracture incidence. Follow- up studies are needed to further investigate the underlying pathologic mechanisms that could explain this increased risk for fractures. Regular evaluations of laboratory markers for bone health, perhaps in combination with periodic assessments of the BMD with a DXA-scan (e.g. once every five years), should definitely be considered as future diagnostic interventions. That way, we can hopefully learn more about bone health in patients with a ZSD.





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