FSHD Global Research Grant 23 Update

In a first for the FSHD field, a study has been published looking closely at the morbidity of low bone density and bone fracture risk in patients suffering from FSHD.  The FSHD Global Foundation played a particularly proactive role in supporting this study beyond just financial support, including advocating both for not only United States patients but also Australian patients from a centre of Excellence in FSHD research at Concord Hospital in NSW to be included in the study.  The findings are therefore of international significance.  And moreover, a key member of the scientific committee of FSHD Global, Dr Scott Baker, himself an endocrinologist provided expert comments on the design of the study which were acknowledged in the paper.

The study characterised 94 patients with FSHD.  One of the key findings of the study was that there is a correlation between strength, physical function and bone density.  This could have implications for the clinical management of FSHD patients, for example it may be wise to use lack of strength and physical function to prompt more frequent scans of bone density.  It was also noted that there was a high prevalence of abnormal Vitamin D3 levels.  Fascinatingly the risk of fractures was 48% in Australia versus 25% in the United States.

Overall the study indicated a high variability in bone density and other characteristics, and having FSHD does not automatically mean a patient has low bone density.  However, the prevalence of mostly traumatic fractures in the patient group overall was high.  It is the hope of the foundation that this research paper will draw attention to this important clinical feature of FSHD patients and improve the standards of care not only in Australia but also in other countries.