Multiple Consultations, Tests and Misdiagnoses Mark Mitochondrial Patients ‘Odyssey,’ Survey Finds

People with mitochondrial disease typically can visit on average eight different doctors, and undergo multiple tests before finally getting an accurate diagnosis, a patients’ survey reports.

The study  reporting its results, “The Mitochondrial Disease Patient’s Diagnostic Odyssey: Results of A Survey,” appeared in the journal Neurology Genetics and referred to its findings as a “diagnostic odyssey.”

Mitochondrial diseases are difficult to diagnose due to a wide variability in their clinical presentation and genetic causes. Physicians working a potential case must be experienced and have detailed medical history to make a diagnosis. Reports indicate that patients often go through a long process that includes visiting numerous specialists, receiving contradictory diagnoses, and repeated testing.

The scientists at Columbia University Irving Medical Center surveyed 210 patients with self-reported mitochondrial disease recruited through the Rare Diseases Clinical Research Network.

“We tried to be sensitive to the patients’ experience and burden,” John (Seamus) Thompson, PhD, the study’s senior author, and one of the developers of the 25-item study questionnaire, said in a press release.

Johnston Grier, the lead author, noted that the researchers had to create a streamlined survey to get a good response from patients. Grier collaborated with the United Mitochondrial Disease Foundation to become familiar with the patient perspective.

Results revealed that, on average, patients reported seeing 8.2 different physicians before getting a diagnosis. Importantly, 55% said they were initially misdiagnosed, with 32% reporting being misdiagnosed more than once.

Patients typically saw a primary care physician (56.7%) on a first medical visit, although 35.2% initially sought a specialist.

“Patients often start by seeing their primary care physician, most of whom, understandably, aren’t familiar with mitochondrial diseases, which can mimic other disorders,” Michio Hirano, MD, the study’s senior clinical author, said.

The most frequent incorrect diagnoses were psychiatric disorder (13%), fibromyalgia (12%), chronic fatigue syndrome (9%), and multiple sclerosis (8%). Patients reported undergoing multiple diagnostic tests, such as blood tests, brain magnetic resonance imaging, muscle biopsies, and genetic tests.

In total, they reported over 800 symptoms. The most frequent requiring a doctor’s visit were weakness (62%), followed by fatigue (56%), difficulty walking (39%), droopy eyelids (33%), and lack of coordination (32%).

The most common diagnoses of mitochondrial disease was myopathy (muscle disease, 22%), chronic progressive external ophthalmoplegia (weakness of eye muscles, 10%), and mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (9%), a genetic disorder particularly affecting the nervous system and muscles. However, 28 percent of patients reported other mitochondrial diseases.

“The diagnostic odyssey of patients with mitochondrial disease is complex and burdensome. It features multiple consultations and tests, and, often, conflicting diagnoses,” the researchers wrote.

“These findings signal a need for improved diagnostics, particularly in the areas of genetic testing, standardized diagnostic criteria, as well as improved clinical training,” Hirano said.

The scientists will continue to monitor the diagnostic process in mitochondrial disease over the coming years, Hirano concluded.