First-degree relatives of multiple sclerosis (MS) patients may develop asymptomatic disease, suggesting the need to further evaluate family members to develop timely prevention strategies.
The study, “Investigating early evidence of multiple sclerosis in a prospective study of high risk family members,” was presented at the Americas Committee for Treatment and Research in Multiple Sclerosis (ACTRIMS) 2017 Forum, Feb. 23-25 in Orlando, Florida.
Two features are thought to precede the onset of symptoms in patients with MS: an ongoing inflammatory demyelination (inflammatory responses leading to the loss of the myelin sheath, the protective layer of nerve fibers), and neurodegeneration (death of nerve cells, also known as neurons).
But the onset for these early signs of the disease remains largely unknown, which severely impairs preventive measures in high-risk groups, such as first-degree family members of MS patients.
Scientists hypothesized that higher-risk individuals who had not yet expressed neurological symptoms are more likely to exhibit subtle manifestations of neurological dysfunction. They investigated the early signs of MS in first-degree family members of MS patients in a large, ongoing, multi-centered cohort study called the Genes and Environment in Multiple Sclerosis (GEMS) study (NCT01353547).
The asymptomatic first-degree family member participants from the GEMS cohort underwent detailed neuroimaging and neurological exams. The analysis was completed in 100 participants: 41 higher-risk subjects (98% women) and 59 lower-risk subjects (42% women), classified according to the Genetic and Environmental Risk Score (GERS). The mean age of the participants was 35.1 years.
Analyzing the women who are neurologically asymptomatic but at higher risk of developing MS, scientists found that this group showed greater risks of potential neurological dysfunction when compared to women at lower risk.
The team also confirmed that 8% of all the women analyzed showed brain T2-hyperintense lesions (a very bright area seen on an MRI scan), a marker for MS. A subset of the first-degree relatives also harbored many different neuroimaging features that are associated with MS.
Overall, “the presence of these findings and of other MS-type changes, including the presence of central veins in T2-hyperintense lesions.., suggests that a subset of these family members may have an asymptomatic disease process and deserve further monitoring, particularly with biometric devices, to detect subtle subclinical and early changes,” the scientists concluded.
“Higher-risk asymptomatic family members of MS patients are more likely to have early subclinical manifestations of MS. These findings underscore the importance of early detection,” researchers wrote.