Сахарный диабет и семейная гиперхолестеринемия у ребенка – реальность?

Diabetes mellitus type 1 is one of the most common chronic diseases among children. It is a pathology of carbohydrate, fat and protein metabolism caused by insulin deficiency in the target tissue. Changes in the lipid profile can be both secondary and primary. The article describes a clinical case of a combination of diabetes mellitus type 1 and family hypercholesterolemia in a child. It presents the clinical and laboratory results of the examination of the child and his parents. Familial hypercholesterolemia is confirmed by mutation of the low density lipoprotein receptor gene (LDLR) in the heterozygous state. In addition, the proband has a polymorphism of the SLCO1B1 gene, which should be considered when prescribing therapy. The demonstrated clinical case shows that familial hypercholesterolemia can be an independent disease, aggravating the course of diabetes mellitus and requiring correction of the therapy.