Epidemiology of epidermolysis bullosa in a cohort of Russian patients

Background. Attention to rare diseases is increasing more and more, especially in the decade. However, data on patient enrollment and prevalence of rare nosology associated with the occurrence and development of orphan disease registries.

Aim: analysis of the epidemiological data of group Russian patients with epidermolysis bullosa (EB) according to the data of the register of the charitable foundation «BELA. Butterfly Children» (BF).

Methods. An analysis of the age and sex characteristics of the patient’s group was carried out and presented with summarizing data for federal districts, the number of patients with molecular genetic results. Mortality index is provided, indicating the type of EB and the age of death of patients included in the BF Register. The prevalence of EB of all types together and each with exceptions per 1 million population was calculated.

Results. The article presents epidemiological and demographic data of 548 patients with EB from the BF Register. The prevalence of EB in the RF was 3.77 per 1 million population, which is significantly lower than in other populations. EB patients were represented by all age-related diseases living in 75 regions of the RF, most of which were in children under 18 years of age – 76%. The dominate nationality among patients was Russians – 56.7%. The distribution according to the main EB types was as follows: dystrophic EB – 59%, simplex EB – 30%, junctional EB – 6%, Kindler syndrome – 2%, unspecified EB – 3%. The coverage of molecular genetic studies was 86%. The presence of palliative status and disabled status in patients with EB was assessed, the presence of which was registered in 9.7% and 55.3%, respectively.

Conclusions. The obtain data will make it possible to correctly plan diagnostic, therapeutic, rehabilitation and preventive measures for each federal district of the Russian Federation, taking into account the local distribution of patients with the main types of EB and the severity of their course. The analysis of information from the registers of patients with rare diseases is an effective tool necessary for practical public health and scientific purposes.

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