Prospective Russian Study Evaluating the Extent of Underdiagnosed and Undertreated of Familial Hypercholesterolaemia in the Population

*Design. We have chosen a randomly selected cohort of individuals who have been tested in the Moscow office of the "INVITRO" Laboratory on the basis of advertising campaign held in September, 2013, for the purpose of TC level measurement and determination of cardiovascular risk with the use of SCORE chart. The operator from the "INVITRO" Laboratory identified potential FH patients based on TC (≥7.5 mmol/L) or LDL-C (≥4.9 mmol/L) values.

Following identification, the potentially eligible participants suspected for FH are sent a notification letter describing the patient's high cholesterol level, at-atherosclerosis risk status and need for additional screening on the basis of the Russian Cardiology Research and Production Center. Those who give preliminary agreement for participation in the Program are invited to the Institution, where, after signing the ICF, they will undergo clinical (biochemical, echo, duplex scan) and genetic testing. Those individuals refusing to participate in the Program will be taken into account with fixing the reason of unwillingness to participate.

Patients under the age of 18 will be enrolled only with the explicit consent of a parent or legal guardian. All participants will be provided with the information about the Russian FH Community and Russian FH Registry.

All included subjects will be provided with a screening questionnaire querying the patient demographics, past medical history, patient FH history and diagnosis with FH type heterozygous or homozygous, family history of hypercholesterolemia, physical examination findings, current lipid-lowering therapies, and patients' contact information for further follow-up. After initialization of online data capture form (Electronic Medical System), the information will be also entered in the system. Blood and gene banks will be formed; analysis of echocardiography data for aortic valve stenosis, carotid duplex ultrasound for atherosclerosis burden, and exercise SPECT imaging in selected cases of suspected coronary heart disease (CHD) will be performed during the baseline visit. Patients diagnosed with FH on the basis of Dutch Lipid Clinic Network, Simon Broome Criteria and genetic testing will be provided information about screening of first-degree relatives, and additional educational materials about FH (under development).

To determine the true number of heterozygous forms among individuals with a probable diagnosis of FH molecular genetic testing is planned. When a causative mutation is found in the index case, a genetic test will be offered to all first-degree relatives.