At the 75^th AAN 2023 Annual Meeting, Dr. Jamie Imitola from the UConn School of Medicine, the United States (US), discussed the differences in clinical and genetic presentation of multiple sclerosis (MS) in diverse populations, also advising on early MS diagnosis and management.¹ 

MS is a heterogeneous autoimmune disease caused by multiple genes and has 240 variants with significant disparities not only in pathology, clinical manifestations, and disease trajectories but also in access to care.¹ However, since there is no biomarker for the biological onset of the disease, one of the main goals in the field of MS is to detect the earliest symptoms of this onset.¹ Additionally, different caring approaches as a result of therapeutic inertia or delays in diagnosis and treatment can lead to different courses of the disease.¹  

Studies have shown that MS manifests differently in different populations [e.g., the time to cane and repletion after anti-cluster of differentiate (CD)20 therapy is faster in African Americans (AAs)].¹ Mimics of MS, such as tuberculosis and myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD), are more common in certain cohorts.¹ Apart from this, even socio-economic factors, such as household income and the level of education, can impact MS trajectories in the Southeast Asian community.¹ Therefore, a more personalized approach should be adopted in the MS management.¹  

Although the currently used McDonald criteria was originally created using data solely from adult white European and North American populations, it can be used to diagnose MS in diverse populations, as there is no evidence suggesting that it cannot be used in diverse populations.¹ Dr. Imitola cautioned that “Vigilance is needed to exclude alternative diagnoses, particularly neuromyelitis optica spectrum disorders (NMOSDs) in AA, Asian, Latin American, and pediatric patients”.¹ However, additional testing is required to diagnose MS in diverse populations as the McDonald criteria were not originally developed to differentiate MS from other mimics.¹ Indeed, one of the existing guidelines in the McDonald criteria suggests that the bar for additional MS testing be set low in diverse populations,  such as children, older individuals, and non-white communities.¹ 

With regard to the pediatric population, the most common symptoms are optic neuritis, polyfocal symptoms, and seizures.¹ Boys who have MS during puberty may experience more relapses.1 More cognitive problems are expected in the late-onset MS.¹ Patients with early onset present with additional comorbidities and are often abandoned by doctors, thus requiring a comprehensive approach to treat them in a center, rather than having to ferry these patients to see different doctors.¹ In addition, more complex management and palliative care are required for those severely disabled patients.¹ 

Dr. Imitola stressed that it is critical that MS is diagnosed in the very early stages of biological onset so as to get access to timely healthcare, also allowing for taking early treatment decisions and initiation, and modifying the risk factors early on.¹ It is suggested that no evidence of disease activity (NEDA), which is not adequately used by most clinicians, be used as the treatment goal for MS to avoid treatment inertia.¹ A study has shown that early detection of MS and quick initiation of therapy (i.e., within 6 weeks) leads to a lower risk of disability.¹ Apart from relapse, progression independent of relapse activity (PIRA) becomes the main cause of progression, despite that the early use of disease-modifying therapy (DMT) has delayed this accumulation by many years.¹ 

Dr. Imitola introduced the concept of “P4 MS care” (i.e., personalized, preventive, proactive, and participatory).¹ Individualized risk factors for the progression of each patient should be taken into account to chart the trajectory for individual patients, while the process of sharing decisions (i.e., onboarding process) should also be employed.¹ He then suggested an easy tool that can be useful for neurologists and patients alike, emphasizing the importance of having a structural system with regard to patient visits.¹ The structure involves 4 parts, namely the burden of symptoms (BOS), the burden of disease activity (BDA), the personal risk factors for progression (PRF), and the personalized patient education (PPE).¹ 

Data from the STRIVE study showed that natalizumab was safe and effective among AAs and Latinos with relapsing-remitting MS (RRMS).¹ In the CHIMES study, which was an interim analysis of disease activity and treatment response of ocrelizumab in AAs and Latinos with MS, NEDA was 40.8% (95% CI: 27.0-55.8).¹ Another third study showed that AAs and Hispanics were placed on highly effective DMTs.¹ 

In conclusion, the issue of access to healthcare literacy in diverse populations must be urgently addressed.¹ DMT should be administered early on and therapy inertia should be stopped.¹ Primary and secondary prevention, as well as the concept of “P4 MS care” should be advocated as priority.¹ Patient heterogeneity of different communities, such as AAs, Hispanics, Latinos, and Asians, should be taken into account right at the time of diagnosis.¹ There should be a proactive onboarding process and personalized patient education.¹