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High-Risk Relatives of MS Patients Show Early Signs of Disease

January 24, 2017

Asymptomatic first-degree relatives of multiple sclerosis patients at high risk for developing the disease were significantly more likely to show subclinical signs of MS than were family members at lower risk, in the Genes and Environment in Multiple Sclerosis prospective cohort study. The findings were published online on Jan. 17 in JAMA Neurology.

This is the first prospective study of populations at risk for MS and is the first detailed cross-sectional examination of higher-risk and lower-risk family members to date, according to investigators led by Zongqi Xia, MD, PhD, of Brigham and Women’s Hospital, Boston.

Although the totality of evidence put together through neuroimaging and numerous clinical tests in the study indicate that individuals with the highest risk for MS have higher risk for the disease than do those with the lowest risk, simple vibration threshold testing gave the best results, Dr. Xia and his colleagues reported.

“Our results further point to a possible sequence of events leading to MS, in which changes in vibration sensitivity may precede the appearance of demyelinating lesions in the brain,” they wrote.

The study involved 100 neurologically asymptomatic adults aged 18-50 years who were first-degree relatives of people with MS who participated in the GEMS project during August 2012 to July 2015. These 100 comprised 41 high-risk participants from the top 10% of a Genetic and Environmental Risk Score (GERS) and 59 low-risk participants from the bottom 10% on the GERS. The GERS included genetic risk factors (HLA alleles and several MS-associated non-HLA genetic variants) and environmental factors, such as smoking status, body mass index, history of infectious mononucleosis and migraine, and vitamin D levels.

However, because 40 of the 41 high-risk individuals were female and 25 of the 59 low-risk individuals were female, the investigators limited the study to the 65 female participants to avoid “attributing any potential difference primarily to the role of sex.”