Uzbekistan Expands Efforts Against Familial Hypercholesterolemia
Tashkent, Uzbekistan (UzDaily.uz) — Uzbekistan is expanding its participation in international initiatives to combat familial hypercholesterolemia, an inherited disorder that significantly increases the risk of cardiovascular disease and premature death.
The country is implementing programmes for early diagnosis, introducing advanced genetic testing methods and strengthening international scientific cooperation.
According to the Committee for Sanitary and Epidemiological Welfare and Public Health, familial hypercholesterolemia is recognized as one of the major challenges in global healthcare.
According to the World Heart Federation Cholesterol Roadmap, published in 2022, the condition is characterized by elevated low-density lipoprotein (LDL) cholesterol levels from birth and significantly increases the likelihood of developing cardiovascular disease.
The issue is particularly important for Uzbekistan, where cardiovascular disease accounts for nearly 60% of all deaths. A significant share of these diseases is associated with atherosclerosis, making the early detection and management of lipid disorders one of the government's healthcare priorities. The authorities aim to reduce premature mortality from cardiovascular disease by 30% by 2030.
International studies estimate that familial hypercholesterolemia affects approximately one in every 200 people. Based on this estimate, around 190,000 people in Uzbekistan may have the condition. In many cases, however, it remains undiagnosed, significantly increasing the risk of myocardial infarction among people aged 25 to 55.
To improve diagnosis and treatment, the Republican Specialized Scientific and Practical Medical Center of Cardiology and the Association of Cardiologists of Uzbekistan are participating in international projects, including programmes of the European Atherosclerosis Society, screening initiatives in Eastern European countries and international clinical studies on the homozygous form of familial hypercholesterolemia.
Since 2025, Uzbekistan has also been a member of the Lipid Clinics Network, which operates under the auspices of the European Atherosclerosis Society. Participation in the network enables the country to introduce modern diagnostic and treatment methods while exchanging expertise with international specialists.
An important milestone has been the introduction of next-generation sequencing (NGS) technology. Under a research grant supported by the Ministry of Higher Education, Science and Innovation, Uzbekistan is conducting its first comprehensive study of the genetic variants associated with familial hypercholesterolemia among the country's population.
According to the Committee, the first phase of the research in 2025 identified 10 pathogenic genetic variants and 21 variants of uncertain clinical significance among patients with coronary artery disease and familial hypercholesterolemia. The findings make it possible to use cascade screening among patients' relatives for earlier detection of the disease.
The Committee said Uzbekistan's participation in international scientific projects is helping strengthen the national healthcare system, introduce modern approaches to diagnosis and treatment, and improve the prevention of cardiovascular disease.
