Modern diagnostics abilities of familial hypercholesterolemia before clinical features of atherosclerosis appearance

Abstract

Aim. To analyse phenotypic characteristic of familial hypercholesterolemia (F.H) without clinical and instrumental signs of atherosclerosis. Methods and Materials. 277 patients with familial hypercholesterolemia (94 with certain FH) were examined. For diagnosing FH we had used The Dutch Lipid Clinic Network. For all patients lipid spectrum, glucose level, ECG, Holter monitor, echocardiography, brachiocephalic arteries ultrasound examination were performed. We had studied the frequency of "classical" cardiovascular risk factors occurrence (obesity, arterial hypertension, smoking), types of the low density lipoproteins (LDL) receptors mutations inpatients with ischemic heart disease (IHD) and FH, and compared them with FH patients without clinical manifestations of atherosclerosis. In 81 patients with certain FH we had analyzed the level of Lp(a). Genetic analyze was performed in 51 patients (54.3%). In 21 patients mutations of LDL receptor were found. Results. All group was divided into two subgroups: in the first were 53 FH patients (56.4%) with an established diagnosis of IHD; the second group consisted of 41 people (43.6%) without IHD and other clinical and instrumental signs of atherosclerosis. Patients with a certain FH without clinical manifestations of atherosclerosis had the following characteristics: the average age was 40.3years, predominantly women (63%), the lipid spectrum was characterized as a significant increase of cholesterol (average level 10.58 mmol/l) and LDL cholesterol (average of 7.83 mmol/l), high level of HDL (1.62 mmol/l), in comparison with FH and IHD group the frequency of such factors, as smoking and body weight was the same, but lower frequency of hypertension (48% and 81% respectively). Patients with certain FH had no differences in the type of mutations of LDL receptor gene in subgroups in the presence of IHD and without it. Conclusion. Detection of severe dyslipidemia requires the exclusion of FH, even in the absence of clinical manifestations of atherosclerosis, especially in the presence in the family history on cardiovascular disease.