In the ongoing absence of a reliable biomarker for multiple sclerosis (MS), misdiagnosis is a common, and persistent, problem that potentially puts patients at prolonged and unnecessary risk.
Experts warn that false-negative diagnoses cause treatment delays, while false-positive diagnoses run the risk for potential harm from needless treatment.
"MS has a misdiagnosis problem," said Patricia Coyle, MD, professor of neurology and vice chair (Academic Affairs), Department of Neurology, Renaissance School of Medicine, Stony Brook University, New York, in presenting on the issue at the Consortium of Multiple Sclerosis Centers (CMSC) 2023 Annual Meeting.
"We currently lack a diagnostic biomarker test, yet diagnosis is key. If you get it wrong — that really can be a problem."
Recent research indicates that MS misdiagnosis is a widespread problem, she added.
For instance, one research paper reported that nearly 20% of patients were misdiagnosed with MS and that more than 50% carried the misdiagnosis for at least 3 years, while 5% were misdiagnosed for 20 years or more.
The misdiagnosis problem is also reflected at large MS referral centers, where 30%-67% of patients turn out not to have the disease, Coyle noted.
A recent study from Argentina further highlights some of the key characteristics of misdiagnosis. In this study, a cohort of 572 patients with MS revealed that 16% were incorrectly diagnosed with MS and that women were at an 83% greater risk for misdiagnosis than men.