Type 1 neurofibromatosis in Western Siberia, prevalence, features of clinical manifestations

Background. Due to modern technologies, in recent decades effective drugs have been developed or are being developed for a number of rare diseases. Neurofibromatosis type I is one of these diseases, for which drug therapy that can improve the quality and life expectancy of patients with this disease is being actively developed. So, doctors must know well the debut of the clinical picture. Only a timely diagnosis will make it possible to get the maximum effect from therapy. All this together makes the evaluation of the prevalence and features of the course of neurofibromatosis type I in the population of residents of the Novosibirsk region an urgent problem. Objective. Evaluation of the prevalence of the disease, features of the clinical manifestations of neurofibromatosis type I in the population of the Novosibirsk region, including Novosibirsk. Methods. Retrospective analysis of the medical records of probands in the clinical medico-genetic department (hereinafter MGD) of the City Clinical Hospital № 1 for 10 years (from 2010 to 2020) with the established clinical diagnosis «neurofibromatosis type I» was performed. The diagnostic criteria recommended by the International Expert Committee on Neurofibromatosis Type I were used to diagnose disease. Results. Over the past 10 years, 111 patients with neurofibromatosis type I have been followed-up at the MGD. Taking into account sick relatives (81 people), there were 192 patients with neurofibromatosis type I. Thus, the prevalence of type I neurofibromatosis in Novosibirsk and the region was 1: 14,500. The relatively low prevalence of the disease and its slow progression can be explained by the climate pattern: the in the autumn-winter-spring period, population constantly wears clothes that isolate the skin from the sun’s rays. This is beneficial for the course of neurofibromatosis. In 28% of patients, there were changes in the musculoskeletal system (scoliosis, kyphosis, flat foot). 6 patients had optic nerve gliomas; and Lish nodules were found in 2 patients. Conclusion. The prevalence of neurofibromatosis type I in Novosibirsk and the region is 1:14,500. Neurofibromatosis requires a systematic approach to diagnosis and correction.

neurofibromatosis type 1, NF1, prevalence, polymorphism of clinical manifestations