The heavy reliance on MRI abnormalities and the tendency of multiple sclerosis to resemble other rare diseases leads to misdiagnoses.
The diagnosis of multiple sclerosis (MS) can be a challenge for physicians, which results in some patients being misdiagnosed. In a recent study, however, researchers defined the current issues that lead to a misdiagnosis, and the potential reasons why.
MS misdiagnosis is a reoccurring problem, and the lack of a specific biomarker or blood test does not make it any easier. Furthermore, MS can come with a wide range of symptoms, many of which are associated with different ailments.
“Although many rare disorders are known to mimic MS, it appears that presently, a number of common disorders are most frequently mistaken for MS and not rare conditions,” said researcher Andrew Solomon, MD, lead author of the study published in Neurology.
The study involved 24 MS specialist neurologists who identified 110 patients with an incorrect MS diagnosis. The results of the study showed that 72% of misdiagnosed patients took medications for a disease they did not have, with some taking these medications for many years.
Thirty-three percent of these patients remained misdiagnosed for a decade or longer, before learning they were misdiagnosed by physicians in the study. Additionally, there were 4 misdiagnosed MS patients who participated in clinical trials for experimental MS therapies.
“This study suggests significant and long-term unnecessary risk for these patients,” Solomon said.
A serious concern for misdiagnoses is that some MS treatments come with serious side effects. In fact, 1 particular drug taken by 13% of the misdiagnosed participants can cause a potentially fatal brain infection, according to the study.
Other patients suffered from the inconvenience and discomfort of daily injections, while others had side effects from medications. Although the diagnostic criteria of MS rely on the accurate interpretation of symptoms, physical exam findings, and testing results to make a diagnosis, the study found that in 110 misdiagnosed patients, the initial clinicians might not have used the diagnostic criteria appropriately.
“MS can be challenging to diagnose correctly,” Solomon said. “Our study suggests that the misinterpretation and misapplication of MS diagnostic criteria are important contemporary contributors to misdiagnosis.”
The clinical diagnosis criteria for MS is a rigorous evaluation that includes the careful interpretation of radiological data from an MRI, according to the study. However, MRI misinterpretation can end up complicating a misdiagnosis.
The authors said that abnormalities resembling MS can show up on the scan for reasons other than MS, and nonspecific abnormalities could lead to a faulty diagnosis.
“(An overreliance on MRI abnormalities) without thoughtful consideration of history, symptoms, and neurological exam may contribute to misdiagnosis,” Solomon said.
Since prompt initiation of treatment with immune modulating therapies is often appropriate for patients diagnosed with MS, physicians feel the need to start treatment right away.
“There is a pressure to make the diagnosis of MS early, and to start patients on MS therapies quickly,” Solomon said. “But in some patients who do not meet rigorous standards for diagnosis, waiting longer and close follow-up may determine the correct diagnosis.”
The authors noted that the findings point to both MS specialist neurologists and non-specialists as being responsible for patient misdiagnoses. However, Solomon hopes their results will encourage better education of clinicians on the proper use of MS diagnostic criteria, how to identify patients misdiagnosed with MS, and the problem of MS misdiagnosis in general.
“While there may be different reasons for misdiagnosis by subspecialists and non-specialists, this study suggests that we all make mistakes, and I think we can all do better,” Solomon concluded.