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Risk factors for poor bone health in primary mitochondrial disease

  • Original Article
  • Published:
Journal of Inherited Metabolic Disease

Abstract

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

Eighty 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

Of patients 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, six 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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Authors and Affiliations

  1. Robert Wood Johnson Medical School, Piscataway Township, NJ, USA

    Shifa S. Gandhi

  2. Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA

    Colleen Muraresku, Elizabeth M. McCormick & Marni J. Falk

  3. Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA

    Marni J. Falk & Shana E. McCormack

  4. Division of Endocrinology and Diabetes, Children’s Hospital of Philadelphia, 3401 Civic Center Boulevard, Suite 11NW, Philadelphia, PA, 19104, USA

    Shana E. McCormack

Authors
  1. Shifa S. Gandhi
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  2. Colleen Muraresku
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  3. Elizabeth M. McCormick
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  4. Marni J. Falk
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  5. Shana E. McCormack
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Corresponding author

Correspondence to Shana E. McCormack.

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None.

Details of funding

The funding for this observational study was provided by NIH K23DK102659, (SEM).

Ethical guidelines

This study has been approved by the CHOP IRB, and was conducted in accordance with the principles of the Declaration of Helsinki of 1975 as revised in 2000. All written informed consent was obtained from patients and/or guardians, as appropriate.

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Communicated by: Daniela Karall

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Gandhi, S.S., Muraresku, C., McCormick, E.M. et al. Risk factors for poor bone health in primary mitochondrial disease. J Inherit Metab Dis 40, 673–683 (2017). https://doi.org/10.1007/s10545-017-0046-2

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  • DOI: https://doi.org/10.1007/s10545-017-0046-2

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