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Burden of familial heterozygous hypercholesterolemia in Uzbekistan: Time is muscle

Aleksandr Shek1, Rano Alieva1, Ravshanbek Kurbanov1

  • 1Republican Specialized Center of Cardiology (RSCC) Ministry of Health of Republic Uzbekistan, Tashkent, Uzbekistan.

Atherosclerosis
|October 2, 2018
PubMed

Insights

Heterozygous familial hypercholesterolemia (HeFH) in Uzbekistan is linked to increased heart attack and stroke risk due to underdiagnosis and inadequate statin therapy. Genetic analysis of PCSK9 E670G revealed associations with cardiovascular events, highlighting the need for early detection and intensified treatment.

Area of Science:

  • Cardiovascular Genetics
  • Lipidology
  • Public Health Genomics

Background:

  • Familial hypercholesterolemia (FH) poses a significant disease burden, particularly in underdiagnosed populations like Uzbekistan.
  • Suboptimal lipid management in patients with heterozygous familial hypercholesterolemia (HeFH) correlates with increased cardiovascular event rates.

Purpose of the Study:

  • To evaluate the disease burden and molecular genetic characteristics of HeFH patients in the Uzbek population.
  • To inform the development of early detection and effective treatment strategies for HeFH.

Main Methods:

  • Utilized the Dutch Lipid Clinic Network Criteria (DLCN) for HeFH diagnosis in 201 patients with coronary artery disease.
  • Measured serum PCSK-9 levels and performed PCR-RFLP for PCSK9 E670G (rs505151) polymorphism genotyping.
  • Compared HeFH patients (n=57) with a control group (n=144), including statin-naïve and statin-treated subgroups.

Main Results:

  • HeFH patients exhibited significantly higher rates of myocardial infarction, stroke, and percutaneous coronary intervention compared to controls.
  • PCSK9 E670G 'G' allele carriage was more frequent in HeFH patients, associated with increased cardiovascular events and carotid plaque burden.
  • Despite statin therapy, HeFH patients showed persistently elevated total cholesterol and LDL-C levels.

Conclusions:

  • Early diagnosis, including genetic confirmation, is crucial for managing HeFH in Uzbekistan.
  • Intensified statin therapy or combination therapy (statins with ezetimibe) is recommended to achieve target LDL-C levels and prevent major adverse cardiovascular events (MACE).
Abstract

Keywords:
Heterozygous hypercholesterolemiaPCSK-9

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