Introduction Primary mitochondrial disease is caused by either mitochondrial or nuclear DNA mutations that impact the function of the mitochondrial respiratory chain. Individuals with mitochondrial disorders have comorbid conditions that may increase their risk for poor bone health. The objective of this retrospective electronic medical record (EMR) review was to examine risk factors for poor bone health in children and adults with primary mitochondrial disease. Methods 80 individuals with confirmed clinical and genetic diagnoses of primary mitochondrial disease at the Children’s Hospital of Philadelphia (CHOP) were included in this study. Risk factors and bone health outcomes were collected systematically, including: anthropometrics (low BMI), risk-conferring co-morbidities and medications, vitamin D status, nutrition, immobility, fracture history, and, where available, dual energy x-ray absorptiometry (DXA) bone mineral density (BMD) results. Results 73% (n=58) had at least one risk factor and 30% (n=24) had four or more risk factors for poor bone health. The median number of risk factors per participant was 2, with an interquartile interval (IQI 0–4). In the subset of the cohort who were known to have sustained any lifetime fracture (n=11), a total of 16 fractures were reported, 6 of which were fragility fractures, indicative of a clinically significant decrease in bone strength. Conclusions The prevalence of risk factors for poor bone health in primary mitochondrial disease is high. As part of supportive care, practitioners should address modifiable risk factors to optimize bone health, and have a low threshold to evaluate clinical symptoms that could suggest occult fragility fracture.

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