Huntington Disease in Russia: an Epidemiological Challenge? (P4.323)

Objective: To do a pilot retrospective research of Huntington disease (HD) prevalence in Russia. Background: Prevalence of HD varies across countries/regions. Four systematic reviews on worldwide prevalence (per 100,000 of the population) were published showing the least values in Asia (0.4) and the highest — in North America (7.33) and the UK (6.68). Only one by Rawlins et al. included Russia in analysis. However, because the majority of Russian epidemiological studies were published in Russian, only five small studies on HD prevalence were used by the authors Design/Methods: We searched in PubMed, eLIBRARY.RU platform, and in Russian State Library catalog for all works with estimation of HD prevalence in Russian regions which were published both in English and Russian after 1994 when genetic testing for HD became available in Russia. We implemented meta-analysis procedure using Freeman-Tukey transformation under random effect model with REML method. Results: 22 epidemiological studies were found with estimation of HD prevalence in 18 out of 85 Russian regions on 27 samples. Some studies had missing data, such as study years. To diagnose HD only typical presentation with progressive choreatic movements was considered in all studies. The majority of HD cases were not genetically confirmed. We found that the estimated HD prevalence across studied Russian regions was 1.91 per 100,000 [95% CI: 1.32; 2.59]. However, results of analyzed studies are heterogeneous: Q(26) = 377.05604412, p-value Conclusions: To our knowledge, it is the most comprehensive search for data on HD prevalence in Russia. To date there is no adequate knowledge on overall prevalence of this disease in Russia — only scattered local epidemiological studies with relatively poor methodological approach were conducted. Lack of systematised data on HD prevalence in Russia demands conduction of the epidemiological study across Russia using a standardised protocol. Disclosure: Dr. Seliverstov has received personal compensation for activities with Teva Pharmaceuticals. Dr. Dranitsyna has nothing to disclose. Dr. Ivashynka has nothing to disclose. Dr. Kravchenko has nothing to disclose. Dr. Klyushnikov has nothing to disclose. Dr. Illarioshkin has nothing to disclose.