Uzbekistan Expands Efforts Against Familial Hypercholesterolemia

Uzbekistan is stepping up its involvement in global efforts to combat familial hypercholesterolemia, an inherited condition that substantially elevates the risk of cardiovascular disease and early death.

The nation is rolling out programs for early detection, implementing advanced genetic testing techniques, and bolstering international scientific partnerships.

According to the Committee for Sanitary and Epidemiological Welfare and Public Health, familial hypercholesterolemia is recognized as a significant global health challenge.

The World Heart Federation Cholesterol Roadmap, published in 2022, states that the condition is characterized by elevated low-density lipoprotein (LDL) cholesterol levels from birth, considerably increasing the likelihood of developing cardiovascular disease.

This issue holds particular importance for Uzbekistan, where cardiovascular disease accounts for nearly 60% of all fatalities. A substantial portion of these diseases is linked to atherosclerosis, making the early identification and management of lipid disorders a top healthcare priority for the government. Authorities aim to reduce premature mortality from cardiovascular disease by 30% by 2030.

International research estimates that familial hypercholesterolemia affects approximately one in every 200 individuals. Based on this projection, around 190,000 people in Uzbekistan may have the condition. However, in many instances, it goes undiagnosed, significantly raising the risk of myocardial infarction in individuals aged 25 to 55.

To enhance diagnosis and treatment, the Republican Specialized Scientific and Practical Medical Center of Cardiology and the Association of Cardiologists of Uzbekistan are engaged in international projects. These include programs from the European Atherosclerosis Society, screening initiatives in Eastern European nations, and international clinical studies on the homozygous form of familial hypercholesterolemia.

Since 2025, Uzbekistan has also been a member of the Lipid Clinics Network, operating under the European Atherosclerosis Society. This membership allows the country to adopt modern diagnostic and treatment methods while facilitating the exchange of expertise with international specialists.

A key development has been the introduction of next-generation sequencing (NGS) technology. Through a research grant supported by the Ministry of Higher Education, Science and Innovation, Uzbekistan is conducting its inaugural comprehensive study of the genetic variants associated with familial hypercholesterolemia within its population.

According to the Committee, the initial phase of research in 2025 identified 10 pathogenic genetic variants and 21 variants of uncertain clinical significance among patients with coronary artery disease and familial hypercholesterolemia. These findings enable the use of cascade screening among patients' relatives for earlier disease detection.

The Committee stated that Uzbekistan's involvement in international scientific projects is contributing to the strengthening of the national healthcare system, the adoption of modern diagnostic and treatment approaches, and improved prevention of cardiovascular disease.