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[Results of a 5-year project for the early diagnosis of multiple sclerosis in first-line blood relatives (RADIRS
A N Boyko1,2, V V Gosteva1, M A Omarova2
1N.I. Pirogov Russian National Research Medical University (Pirogov University), Moscow, Russia.
Objective:
A nationwide examination of blood relatives of MS patients using free brain MRI for possible detection of RIS and subsequent early diagnosis of MS.
Material And Methods:
In more than 60 regions of the country, relatives of the first degree of kinship (children and siblings) aged 18-50 years of patients with an undisputed diagnosis of MS according to the McDonald criteria in 2017 who were receiving DMTs were called for a free MRI scan of the brain. When focal changes were detected, additional analysis was performed to exclude non-specific vascular changes, migraines, and follow-up was performed for everyone. If RIS was suspected, participants were necessarily referred for inpatient examination to the neurological department No. 2 Federal Medical Center for Brain and Neurotechnology or other large MS centers (by territorial affiliation) for repeated MRI of the brain and spinal cord with contrast, clinical assessment and determination of oligoclonal IgG in cerebrospinal fluid (type of synthesis).
Results:
For 3 years, information was collected on the results of 416 MRI examinations of healthy first-degree relatives (children and siblings) aged 18-50 years. MRI results. The majority of healthy relatives of the patients (74.6%) showed no focal changes in brain tissue. In 56 examined patients (14.5%), nonspecific or vascular changes were detected that did not imply a demyelinating process. However, 48 people (11.5%) had changes that required additional examination. Only half of them reached the Federal Medical Center and other large centers (the entire survey was proposed to be conducted only within the framework of compulsory medical insurance). Of the 24 patients, 14 were diagnosed with MS and recommended to start treatment urgently. Among the risk factors, it should be noted the transmission of the disease from the mother, the presence of OCI in the CSF, the presence of hypointernative foci on T1-VI, even without accumulation of contrast, as well as the detection of foci in the spinal cord.
Conclusion:
It is necessary to strengthen monitoring of family members of MS patients in order to take timely measures in case of transition from RIS to MS, without starting the course of infection.
Insights
Screening first-degree relatives of MS patients revealed that 11.5% had changes requiring further examination. Early detection of multiple sclerosis (MS) in at-risk individuals can lead to timely treatment.
Area of Science:
- Neurology
- Radiology
- Genetics
Context:
- Multiple Sclerosis (MS) is a chronic autoimmune disease affecting the central nervous system.
- Early detection and intervention are crucial for managing MS progression.
- Genetic predisposition plays a significant role in MS development, with a higher risk observed in first-degree relatives of patients.
Purpose:
- To conduct a nationwide examination of first-degree relatives of MS patients using free brain MRI.
- To identify individuals with Radiologically Isolated Syndrome (RIS) for early MS diagnosis.
- To assess the prevalence of focal changes and potential early signs of MS in a healthy at-risk population.
Summary:
- A 3-year study involving 416 first-degree relatives (aged 18-50) of MS patients underwent free brain MRI.
- While 74.6% showed no focal changes and 14.5% had non-specific findings, 11.5% (48 individuals) exhibited changes necessitating further investigation.
- Of those investigated further, 14 were diagnosed with MS and recommended for urgent treatment, highlighting the potential for early detection.
Impact:
- This study underscores the importance of systematic screening of MS patient relatives for early detection of RIS and MS.
- Identifying at-risk individuals allows for timely intervention, potentially altering disease course and improving patient outcomes.
- The findings support the need for enhanced monitoring of family members to prevent disease progression.
