Mitochondrial Disease: Preventive Care Guidance Is Available at Last

For the first time, clinicians who care for individuals with primary mitochondrial disease have formal recommendations for the preventive care and routine management of these patients.

That’s thanks to publication of a new consensus statement from the Mitochondrial Medicine Society, “Patient Care Standards for Primary Mitochondrial Disease,” in Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics.

“Prior to this, no published recommendations existed to guide patient management decisions and standardize preventive health maintenance in mitochondrial disease,” says the statement’s lead author, Sumit Parikh, MD, Director, Cleveland Clinic Mitochondrial Medicine Center.

He led a writing team of 35 expert mitochondrial disease physicians from around the world in developing the document, which expands on and is meant as a complement to an earlier consensus statement, “Diagnosis and Management of Mitochondrial Disease,” published by Dr. Parikh and many of the same experts in Genetics in Medicine in 2015.

“We used the Delphi method to formulate consensus-based recommendations for when insufficient information is available on the treatment of this rare group of genetic disorders,” explains Dr. Parikh, a pediatric neurologist specializing in neurometabolic and neurogenetic conditions. “Our aim is not to provide an inflexible treatment protocol but rather to give guidance based on consensus among an international group of physicians with deep experience in this area.”

The new statement is organized by the various organ systems frequently involved in mitochondrial disorders and includes focused sections providing screening and management recommendations in cardiology, endocrinology, gastroenterology, hematology and neurology, among other specialties.

Highlights include an updated list of medications to be avoided — or used with great caution — in patients with mitochondrial disease and a comprehensive table outlining guidelines for the type and frequency of screening needs across the full range of specialty areas.

As Dr. Parikh explained in this earlier Consult QD post on the rationale behind the new statement, the authors and the Mitochondrial Medicine Society hope to implement its recommendations in a network of care centers across the U.S. “We hope to establish more centers that care for mitochondrial disorders around the country and minimize the variation in management that currently exists,” he says.

View the open-access consensus statement here.