Asymptomatic women at high risk for Multiple Sclerosis may have early subclinical neuroimaging abnormalities

1. Women at higher risk for multiple sclerosis (MS) (based on family history, genetic testing, blood biomarkers, etc.) had significantly more early imaging and had decreased vibratory sense compared to women with lower risk of MS.

2. High-risk women did not generally have significantly decreased neurological function as compared with women at lower risk.

Evidence Rating Level: 2 (Good)

Study Rundown: Multiple sclerosis (MS) is an inflammatory neurological disorder that may be preceded by subclinical inflammatory and degenerative changes. Given the potential for early medical intervention, it would be useful to determine if individuals at high risk for MS have subclinical abnormalities. This prospective cohort study aimed to investigate the prevalence of brain MRI and subclinical abnormalities among asymptomatic individuals at risk for MS.

Clinically, women who were at higher risk for MS generally did not have significant a decrease in neurological function as compared to women with lower risk for MS. However, high-risk women did have significantly worse vibration sensitivity during testing. On imaging, 8% of women (four with high risk and one with low risk) met the primary neuroimaging outcome of having T2-weighted hyperintense brain lesions as defined by the 2010 McDonald MS MRI criteria. Strengths of this study included use of a prospectively gathered cohort, which may approximate causation better. However, the cohort was small (N=100), and further reduced to only include women in the final analysis, which reduced the study’s generalizability.

Click to read the study, published today in JAMA Neurology

Relevant Reading: Incidental MRI anomalies suggestive of multiple sclerosis: The radiologically isolated syndrome

In-Depth [prospective cohort]: This multicenter prospective cohort study included first-degree relatives of people with MS from August 2012 to July 2015. An aggregate MS risk estimate was calculated using the Genetic and Environmental Risk Score for Multiple Sclerosis Susceptibility. Inclusion criteria were: age between 18 and 50 years at enrollment and at least one first-degree relative diagnosed with MS. The study cohort included 100 neurologically asymptomatic family members, who then had detailed neuroimaging (3-T brain MRI and optical coherence tomography), laboratory testing, and thorough neurological examination (disability status, visual, cognitive, motor and sensory testing). The statistical analysis included an unadjusted comparison between higher- and lower-risk participants with Fisher exact tests for categorical variables and 2-tailed t tests for continuous variables.

One hundred neurologically asymptomatic participants underwent detailed examination and imaging: 41 high-risk participants (98% women) and 59 low-risk participants (42% women). Analysis was restricted to women only in order to compare the two risk groups without attributing any potential difference to sex. Of the 65 women, 5 (4 high risk and 1 low risk) met requirements for the primary outcome of presence of T2-weighted hyperintense lesions defined by the 2010 McDonald MRI criteria (p = 0.64). Secondary outcome analysis showed that these first-degree family members of patients with MS might harbor a variety of neuroimaging features associated with MS. There were no significant differences between high and low risk family members for any neuroimaging secondary outcomes. On neurological exam, there were no significant differences seen between high risk and low risk women. However on vibratory sensitivity testing there was consistent reduction in vibratory sensitivity amongst women with higher risk of MS (p = 0.01).

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