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

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

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

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%).

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.

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