Pohuliaieva T. Clinical and immunogenetic characteristics of patients with sporadic and familial forms of multiple sclerosis: course features, differential diagnosis, prognosis, the effect of pregnancy and childbirth in two forms of the disease

In the dissertation work, for the first time in Ukraine on the model of the Kharkov region, was created a register of family forms of MS, on the basis of which a system for assessing their course and prognosis was developed. With the help of clinical-neurological, immunogenetic, mathematical-statistical research methods, the clinical and pathogen etic characteristics of 127 patients were obtained, of which 87 with sporadic and 44 with familial forms of multiple sclerosis (MS). We studied he clinical features of the recurrent (RT), secondary progressive (SPС) and primary progressive (PPС) types of the course in two forms of MS. Using mathematical analysis (by the method of permutation), significant differences were obtained in the course of the two forms, which indicated a more severe course of the familial form with the predominant formation of an unfavorable prognosis in case of progressive types of course. We obtained differences between individual indicators of cellular and humoral immunity, which prevailed in the recurrent course of familial MS in immunological studies. Pairwise analysis of immunological parameters separately for two forms was carried out for each pair (contingency tables according to the χ2 test). The percentage of cases above and below the norm was calculated for 2 indicators that make up apair, which turned out to be higher in the family form. The study of the cytokine status revealed an increase in the level of pro-inflammatory and normal levels of anti-inflammatory cytokines in two forms of MS. In the sporadic form, a relationship was found between different levels of cytokines and the type of course; in the family form, such connection was absent. Consequently, the mechanisms that ensure this process of interaction in the family form function independently of each other. A relationship between the prevalence of AA and AG haplotypes, the type of course, points on the EDSS disability scale, and the nature of the prognosis in two forms of MS was revealed. In patients with the familial form, the AG haplotype, in contrast to the AA haplotype, was more common with a poor prognosis and was associated within increase in EDSS scores in PP. A retrospective analysis of the premorbid history, course of the disease and obstetric-gynecological history was carried out in 82 women (group 1 - delivery at the preclinical stage in 51 patients; group 2 - childbirth with MS in 31 patients). We found differences in the course of pregnancy, childbirth and the postpartum period between women in groups 1 and 2, as well as between sporadic and familial forms. In women of the 2nd group, in contrast to the 1st group, the course of these periods was ambiguous, especially in the family form, and depended on the types of course. With RT after childbirth, the overwhelming majority of women showed a more favorable course of the disease, while with PPС, further progression of the process occurred.