To study the specific features of manifestations of atherosclerosis in Karelia dwellers with familial hypercholesterolemia (FH).
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.
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.
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.