Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Abstract

Purpose The purpose of this statement is to review the literature regarding mitochondrial disease and to provide recommendations for optimal diagnosis and treatment. This statement is intended for physicians who are engaged in diagnosing and treating these patients. Methods The Writing Group members were appointed by the Mitochondrial Medicine Society. The panel included members with expertise in several different areas. The panel members utilized a comprehensive review of the literature, surveys, and the Delphi method to reach consensus. We anticipate that this statement will need to be updated as the field continues to evolve. Results Consensus-based recommendations are provided for the diagnosis and treatment of mitochondrial disease. Conclusion The Delphi process enabled the formation of consensus-based recommendations. We hope that these recommendations will help standardize the evaluation, diagnosis, and care of patients with suspected or demonstrated mitochondrial disease.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

“…Exercise may benefit patients with mitochondrial myopathies (see prior exercise recommendations). 3 6. Agents such as statins, corticosteroids, metformin and antiretrovirals should be used with caution since they may exacerbate the underlying myopathy.…”

“…More than half of these respondents (51%) were aware of the Diagnostic Consensus Criteria previously published by the MMS 3 , with 97% finding the guidelines useful and 82% stating that the recommendations directly impacted patient management.…”

“…This new consensus statement expands upon and is intended to complement, but does not supplant, the 2015 consensus statement "Diagnosis and Management of Mitochondrial Disease". 3 Importantly, our aim is not to provide an inflexible treatment protocol;…”

“…1,2 The Mitochondrial Medicine Society (MMS) developed consensus criteria to aid with the diagnosis of mitochondrial disease. 3 This prior publication addressed select management topics but was primarily focused on establishing diagnosis consensus guidelines.…”

“…They are in addition to routine illness consensus guidelines published previously 3 and summarized in Table 3. 1. Patients should be provided a summary document by their mitochondrial disease care…”