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Published on: September 15, 2018
[The clinical manifestations of atherosclerosis in familial hypercholesterolemia]
Insights
Familial hypercholesterolemia (FH) in Karelia affects younger individuals, with high rates of coronary heart disease and recurrent myocardial infarction. Lipid-lowering treatments are effective in one third of patients.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Public Health
Background:
- Familial hypercholesterolemia (FH) is a genetic disorder characterized by high levels of low-density lipoprotein (LDL) cholesterol.
- Atherosclerosis, a major cause of cardiovascular disease (CVD), is accelerated in individuals with FH.
- Understanding the specific manifestations of FH in different populations is crucial for targeted prevention and treatment strategies.
Purpose of the Study:
- To investigate the clinical features and cardiovascular manifestations of atherosclerosis in individuals with familial hypercholesterolemia residing in Karelia.
- To identify specific patterns of coronary heart disease (CHD) and other atherosclerotic complications in this FH cohort.
Main Methods:
- A cohort of 196 patients with FH underwent comprehensive clinical evaluation.
- Methods included laboratory tests, electrocardiography, echocardiography, duplex scanning of arteries, exercise testing, and coronary angiography.
- Genetic analysis was performed in over half of the participants (55.6%).
Main Results:
- The study population had a mean age of 48 years, with a female predominance (68.7%).
- Significant hypercholesterolemia, primarily due to elevated LDL, was universal.
- Coronary heart disease (CHD) was prevalent (27.5%), with a mean age of onset at 45 years. Acute myocardial infarction (AMI) occurred early, with 65.5% of first events in those under 55.
- Recurrent AMI affected 24.1% of patients, and 51.7% of AMIs were transmural.
Conclusions:
- Karelian FH patients present with early-onset atherosclerosis and a high burden of CHD, including frequent recurrent and transmural AMIs.
- While physical stigmas of FH were uncommon, significant dyslipidemia was the primary diagnostic criterion.
- Achieving target blood lipid levels was possible in one-third of the patients, highlighting the need for effective management.
Aim:
To study the specific features of manifestations of atherosclerosis in Karelia dwellers with familial hypercholesterolemia (FH).
Subjects And Methods:
The examination of 196 patients with FH involved laboratory tests, electrocardiography, echocardiography, triplex scanning of the arteries, exercise testing, and coronarography as indicated. Genetic examination was performed in 109 (55.6%) patients.
Results:
The examinees' mean age was 48 +/- 2.3 years; there was a female predominance (68.7%). All the patients were found to have significant hypercholesterolemia due to elevated low-density lipoprotein levels. There was arcus lipoides corneae in 26% of cases, tendinous xanthomas in 17%, and xanthelasma palpebrarum in 34.9%. Carotid stenosis and lower extremity atherosclerosis obliterans were detected in 26.3 and 4.6%, respectively. 27.5% of the patients were diagnosed with coronary heart disease (CHD) (mean age at onset 45 years): exertional angina pectoris (10.2%), acute myocardial infarction (AMI) (14.8%), and an arrhythmic form (5.6%). 65.5% of the patients who had developed the first AMI were aged younger than 55 years. The most common site of AMI was the anterior wall of the left ventricle (55%); 51.7% of cases had transmural AMI. 24.1% of the patients sustained recurrent AMI. Complicated AMI was noted in 13.8% of cases. One third of the patients could achieve target blood lipid levels.
Conclusion:
The characteristics of the patients with FH in Karelia are a mean age of 48 years and a female predominance; the main criterion for the diagnosis of FH is significant dyslipidemia while its stigmas are rarely encountered. The specific features of CHD in the patients with FH are as follows: the age at onset is 45 years; AMI develops at the ages of less than 55 and 40 years in 65.5 and 26.3%, respectively; the rate of recurrent AMI is as high as 24%; transmural AMIs occur in 51.7% of the patients; 26.3% had signs of brachiocephalic artery stenotic lesion; 4.6% present with lower extremity atherosclerosis obliterans; one third of the patients could achieve target blood lipid levels.
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