Diagnosis and Management of Mitochondrial Diseases (Podcast)

An estimated 1,000 to 4,000 children are born annually in the U.S. with a mitochondrial disease. There are at least 100 mitochondrial diseases, and symptoms are variable and often affect multiple body systems.

“We talk about mitochondria as energy production machines, but their role in the body ― in pathophysiology across all systems, across all specialties ― is huge,” says pediatric neurologist Sumit Parikh, MD, Director of Cleveland Clinic’s Mitochondrial Medicine Center. “As our understanding of mitochondria has grown, our understanding of their importance in other disease pathophysiology has grown significantly as well.”

In the latest episode of Cleveland Clinic’s Neuro Pathways podcast, Dr. Parikh talks about the diagnosis of mitochondrial diseases and guidelines for their management, as well as how experts are working to improve health outcomes for patients. He discusses:

• Guidelines for patient evaluation developed by the Mitochondrial Medicine Society
• The standardized workup for patients with symptoms of mitochondrial disease, including genetic testing
• The challenges of mimicking diseases and misdiagnosis
• Current treatment options and therapies on the horizon
• His recent study analyzing mortality in patients with genetic mitochondrial diseases
• The role of the Mitochondrial Care Network in helping providers

Click the podcast player above to listen to the episode now, or read on for a short edited excerpt. Check out more Neuro Pathways episodes at clevelandclinic.org/neuropodcast or wherever you get your podcasts. This activity has been approved for AMA PRA Category 1 Credit™ and ANCC contact hours. After listening to the podcast, you can claim your credit here.

Excerpt from the podcast

Podcast host Glen Stevens, DO, PhD: In 2015, you led a team of mitochondrial disease experts that developed a standardized approach to evaluating patients with suspected mitochondrial disease. What should make us suspect a potential mitochondrial disorder? How do people generally present, or is the challenge that it’s so nonspecific?

Dr. Parikh: We really try to make it very straightforward for clinicians. The truth is that there are some findings that we consider red flags or sine qua non findings that still hold true. And for a busy clinician who is not seeing mitochondrial disease predominantly, who might be a generalist or a specialist, we really don’t want them to have to worry about all the individual diseases and symptoms and conditions.

The most high-impact symptoms are a combination of hearing loss and diabetes, whether in a pediatric patient or an adult patient. That alone is such an odd combination that if those are not well explained by some other condition or problem, that person deserves a workup for mitochondrial disease.

Looking more specifically at a neurology context, there are several findings that should prompt a workup for mitochondrial disease. These include unexplained lesions in the brain in a certain pattern ― specifically, a symmetric pattern in the deep gray matter, basal ganglia, thalami ― as well as unexplained strokes at a young age, unexplained cerebellar disease with volume loss and unexplained myoclonic epilepsy.