Multiple sclerosis (MS) is a challenging diagnosis, as many other disorders can mimic its clinical and radiological presentation, according to recent data on MS misdiagnosis. Common disorders, such as migraine or cerebral vascular disease, can be mistaken for MS, which may be partly due to over-reliance on imaging abnormalities, said Andrew Solomon, MD, associate professor of neurological sciences and chief of the Multiple Sclerosis Division at the University of Vermont in Burlington. Solomon’s presentation on the misdiagnosis of MS and how to improve the accuracy of diagnosis was part of the John F. Kurtzke Memorial Lecture at the 2023 Consortium of Multiple Sclerosis Centers (CMSC) Annual Meeting, held May 31 to June 3 in Aurora, Colorado.
Although diagnostic criteria for MS continue to evolve, misdiagnoses still occur in the field, and this can have consequences for both patients and the healthcare system. Solomon notes that misdiagnosis can lead to unnecessary treatment, including disease-modifying therapies, and potentially harmful side effects. It can also lead to added healthcare costs and time-consuming procedures. Therefore, it is important to improve education and dissemination efforts to prevent MS misdiagnosis.
One way to avoid misdiagnosis is to consider the types of syndromes that can mimic MS. For example, neuromyelitis optica (NMO) is a rare autoimmune disorder that can present similarly to MS, but requires a different treatment approach. Clinicians should also be aware of symptoms that are not typical of MS, such as high fever or severe headache.
Moreover, it is important for clinicians to rely on clinical evaluations, rather than over-relying on imaging, which can lead to false positives and negatives. Solomon suggests that clinicians should use imaging in combination with other diagnostic tools. For instance, oligoclonal bands in cerebrospinal fluid can help confirm MS, while magnetic resonance imaging (MRI) helps to rule out other disorders.
Additionally, emerging diagnostic biomarkers may offer a way to accurately diagnose MS. For example, blood biomarkers, such as neurofilament light chain, have shown promise in detecting MS, particularly in its early stages. However, more research is needed before these biomarkers can be used in clinical practice.
The medical community can also support patients in making informed decisions about their care, by providing them with accurate and clear information about MS. For instance, clinicians could help patients understand the diagnostic process and provide them with support during the often stressful period of diagnosis.
In conclusion, improving the accuracy of MS diagnosis is critical for improving patient outcomes and reducing healthcare costs. To achieve this, clinicians must be aware of the types of syndromes that mimic MS, use clinical evaluations alongside imaging, and stay informed about emerging diagnostic biomarkers. They must also communicate effectively with patients to ensure they receive accurate information and the support they need.
