Prospects for the Use of Personalized Therapy in Patients with Coronary Heart Disease and Heterozygous FH against the Background of Diabetes Mellitus

Abstract

The chapter examines the prevalence and diagnosis of familial hypercholesterolemia, its impact on the development of early coronary heart disease, identified mutations, and prospects for personalized therapy taking into account the identified mutations.

Diseases of atherosclerotic genesis still remain the number one problem worldwide. One of the most common forms of atherosclerotic cardiovascular diseases is familial heterozygous hypercholesterolemia (FH) is still rarely detected and this disease often falls out of the focus of attention of the primary health care structure not only in countries with high economic development but also in countries with medium and low economic development. Familial hypercholesterolemia is associated with a mutation in the LDLR, APOB and PCSK9 genes or, possibly, several mutations in the APOE gene and, for rare autosomal forms, in the LDLRAP1 gene, and has an autosomal dominant form of inheritance. It is the discovery of genes involved in the disease that has allowed us to improve the diagnosis and treatment of familial hypercholesterolemia, especially the introduction of statins into clinical practice after the discoveries of Brown and Goldstein, as well as the discovery of the PCSK9 protein in familial hypercholesterolemia by Abifadel et al., which made it possible to treat previously unknown forms of the disease. The diagnostic capabilities achieved recently allow not only to identify but also to effectively treat such patients, which expands the therapeutic potential of conditions previously inaccessible to therapeutic intervention. It is the improvement of diagnosis, prevention, and treatment, as well as the expansion of the availability of therapeutic interventions that helps to reduce the lifelong burden of atherosclerotic diseases.