New Clinical Care Guidelines Issued for Patients With Mitochondrial Disease
PHILADELPHIA -- October 30, 2017 -- Physicians who see patients with mitochondrial disease now have a practical new tool: a set of guidelines for managing and caring for those patients.
“Standards of care are not uniform across centres or clinicians,” said Amy Goldstein, MD, Mitochondrial Medicine Frontier Program, Children’s Hospital of Philadelphia (CHOP), Philadelphia, Pennsylvania. “To take just one example, clinicians need to know how often to order laboratory tests to monitor the health of patients with mitochondrial disease. Our guidelines reflect expert consensus based on our current knowledge of mitochondrial medicine.”
The Mitochondrial Medicine Society (MMS) patient care standards for primary mitochondrial disease are published in the journal Genetics in Medicine.
The MMS previously issued consensus criteria in 2015 to guide diagnosis of mitochondrial disease. It subsequently surveyed over 200 clinicians worldwide who see patients with mitochondrial disease, and found that 99% of those practitioners, including neurologists, geneticists, and metabolic experts, wanted additional guidelines to assist in managing patient care.
In addition, “patients and families have been asking for a guidelines document to bring to their own physicians,” said Dr. Goldstein.
For the current study, the MMS appointed an international panel of 35 mitochondrial medicine specialists to review current knowledge and develop recommendations.
Reflecting the systemic impact of energy deficiencies caused by impaired mitochondrial function, the group’s recommendations address a broad range of medical specialties, including cardiology, neurology, critical care medicine, nephrology, endocrinology, audiology, and ophthalmology.
In addition, the guidelines address special issues encountered by patients during pregnancy and high-altitude travel, and also compile a list of medications, such as statins and acetaminophen, that must be used with caution or avoided in patients with mitochondrial disease.
While the current guidelines are the first set of published recommendations for patient management and clinical care decisions, the authors recognise that as mitochondrial medicine continues to evolve, the guidelines will need to be updated.
These guidelines represent an important step in the effort to standardise health care and optimise health outcomes for patients with mitochondrial disease. They also establish a baseline from which meaningful clinical trials can be launched to evaluate new treatment interventions.
Reference: DOI: 10.1038/gim.2017.107
SOURCE: Children’s Hospital of Philadelphia