September 17, 2024
Guidance from international committee on differential diagnoses and diagnostic approach
Approximately 85% of cases of multiple sclerosis (MS) initially present in patients between 18 and 50 years old. Guidelines for diagnosis and management have been designed primarily for this typical age range, and little has been published specifically on patients who fall outside it.
To address this gap, the Americas Committee for Treatment and Research in MS (ACTRIMS) spearheaded a group to provide guidance on diagnosing suspected MS in pediatric patients (about 2%-10% of cases, mostly in those older than 10) and in individuals older than 50 (about 5% of cases at time of presentation).
The international committee — consisting of 19 members from North America, Europe and South America — was led by Le Hua, MD, Director of the MS Program at Cleveland Clinic Lou Ruvo Center for Brain Health in Las Vegas. A comprehensive review of the committee’s findings was recently published in JAMA Neurology.
In the following Q&A, Dr. Hua discusses the importance of this topic and highlights takeaways from the committee’s findings.
Q: Why is specific guidance needed for diagnosing MS in pediatric and older populations?
Dr. Hua: Until now, we have approached these patients as typical adults. But neither end of the age spectrum fits that model well. Differences in underlying immunologic and hormonal physiology are prominent, and comorbidities must be taken into account, particularly in the late-onset group. There is still much to understand about how these populations are different, and this is an important focus of research.
It’s critical to diagnose MS accurately for individuals of all ages, but this is especially true for these groups. For children, delaying an MS diagnosis can lead to missing the chance to address the disease early with disease-modifying therapies (DMTs) to help postpone disability progression from overt inflammatory activity. For older patients, adverse side effects of MS drugs may tip the balance over benefits even if the diagnosis is accurate, so it’s particularly important not to prescribe them inappropriately, especially as DMTs have not been shown to be efficacious in nonrelapsing progression.
Helping clinicians in the community establish an accurate diagnosis drove the efforts of our committee. The article and its accompanying supplemental materials provide detailed figures and tables on frequently encountered MS mimics in the pediatric and late-onset populations, as well as on clinical and imaging features that are red flags suggesting an alternative diagnosis.
Q: What are some key points specific to the pediatric population?
Dr. Hua: Children tend to have high immunological reactivity. This manifests in how MS presents and by the fact that other rare immunological conditions arise in childhood that can mimic MS. There is increasing recognition of, and improved testing for, other acquired demyelinating syndromes that present in the pediatric population, such as acute disseminated encephalomyelitis (ADEM), myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD), neuromyelitis optica spectrum disorder (NMOSD) and hemophagocytic lymphohistiocytosis.
Clinical features of MS in childhood often differ from those in adults. I tell my colleagues that if a child presents with what appears to be a progressive MS course, look hard for an alternative diagnosis. Childhood tends to be a time of high inflammation in MS, not disease progression.
Because inflammatory activity is so high in children, it’s important to establish a diagnosis of MS promptly if it is present so that immunomodulatory therapies can be started. While children with MS tend to have a longer time before reaching disability compared to their counterparts with adult-onset MS, they are still likely to reach disability milestones at earlier ages, and we’d like to prevent that. That said, it is daunting to start children on potent DMTs, knowing that they may potentially face four decades or more of their use. The advisability of staying on these drugs for so long is an important area in need of more research.
Q: What should clinicians know about suspected MS in older people?
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