Efficacy of targeted screening for familial hypercholesterolemia in children and adults aged <44 years: retrospective, prospective observational study

BACKGROUND: Considering the high cardiovascular risk in patients with familial hypercholesterolemia (FH), early diagnosis and treatment are the basis for the prevention of vascular accidents. In the absence of universal screening, the results of more targeted diagnostics are of interest — the search for lipid metabolism disorders in young relatives of patients with atherosclerotic vascular diseases. OBJECTIVE: To determine the effectiveness of targeted screening for identifying patients with FH, which will justify its widespread use in clinical practice. MATERIALS AND METHODS: At the start of the observational study, 584 patients were identified from the vascular centers of the Krasnoyarsk Regional Hospital, Krasnoyarsk Interdistrict Clinical Hospital No. 20 named after. I.S. Berzon, who had lipid profile data and early cardiovascular events (all forms of coronary heart diseases), including reconstructive vascular interventions up to 55 years in men and up to 60 years in women in the case of first-degree relatives and up to 50 years in second-degree relatives. The study examined patients’ relatives aged 44 years. To diagnose FH in participants aged 16 years, the scale developed by a network of Dutch lipid clinics was used; in participants aged 16 years, the S. Broome criteria were used. Targeted screening and lipid parameters in individuals with probable, possible, and definite FH were analyzed. Data processing was performed using Microsoft Excel and Statistica v. 12.0 (USA). Parametric (calculation of the median and 25th and 75th quartiles) and nonparametric (statistical significance of differences was determined using the Mann–Whitney and χ2 tests) methods were used. RESULTS: The study examined 70 children and 104 adults aged 44 years whose first- and/or second-degree relatives suffered premature vascular events. In the general group of participants, 42 (24.14%) patients had FH (of which 18 were 17 years old) and 37 (21.2%) had hyperlipoproteinemia (a). Definite FH was documented in 16 (9.1%) patients, probable in another 16, and possible in 9. Hyperlipoproteinemia (a) was found in 37 (21.2% of general group) patients, including 12 children (17.1% of pediatric group). CONCLUSION: Not more than 30% of the population are aware of the hereditary nature of lipid metabolism disorders and atherosclerotic diseases. Targeted screening is the least expensive and most effective tool for identifying patients with FH and hyperdipoproteinemia (a).