A familial hypercholesterolemia registry as the main tool for adequate management of the disease

Abstract

Familial hypercholesterolemia (FH) is the most common, but poorly diagnosed autosomal-dominant genetic disease which increases the cardio-vascular risk.

Aim: To evaluate the experience of FH registry conducted in Karelia Republic.

Methods: FH registry in Karelia is existing from 2004, it includes 350 patients with heterozygous FH (110 with definite FH), the mean age is 48 ± 2.3 years. The genetic study was performed in 102 patients (29.1%).

Result: The creation of the registry has contributed to the active identification of FH, and now the estimated frequency of FH occurrence in Karelia may be 1:300, in patients with cardiovascular disease 1:10. We also analyzed genetic features of FH in our republic and found that the LDL-C level, above which the probability of LDL receptor mutation increases in Karelia, is 6.5 mmol/L. We analyzed risk factors of ischemic heart disease and the prognosis in FH.

Conclusion: The creation and maintenance of a registry is an effective way of organizing timely diagnosis and adequate treatment of FH patients.

Keywords: cardiovascular diseases; familial hypercholesterolemia; lipid-lowering therapy; registry.