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.
Author
(s) Details
Rano Alieva
CAD & Atherosclerosis Department, Republican Specialized Center of
Cardiology, Tashkent, Uzbekistan.
Aleksandr Shek
CAD & Atherosclerosis Department, Republican Specialized Center of
Cardiology, Tashkent, Uzbekistan.
Alisher Abdullaev
Center for Advanced Technologies, Ministry of Innovative Development of
Uzbekistan, Tashkent, Uzbekistan.
Khurshid Fozilov
CAD & Atherosclerosis Department, Republican Specialized Center of
Cardiology, Tashkent, Uzbekistan.
Shovkat Khoshimov
CAD & Atherosclerosis Department, Republican Specialized Center of
Cardiology, Tashkent, Uzbekistan.
Guzal Abdullaeva
CAD & Atherosclerosis Department, Republican Specialized Center of
Cardiology, Tashkent, Uzbekistan.
Dariya Zakirova
Center for Advanced Technologies, Ministry of Innovative Development of
Uzbekistan, Tashkent, Uzbekistan.
Rano Kurbanova
CAD & Atherosclerosis Department, Republican Specialized Center of
Cardiology, Tashkent, Uzbekistan.
Lilia Kan
CAD & Atherosclerosis Department, Republican Specialized Center of
Cardiology, Tashkent, Uzbekistan.
Andrey Kim
CAD & Atherosclerosis Department, Republican Specialized Center of
Cardiology, Tashkent, Uzbekistan.
Please see the book here:- https://doi.org/10.9734/bpi/dhrni/v9/1721
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