Familial hypercholesterolemia: cascade screening along the “child–parent” pathway

Familial hypercholesterolemia (FH) is the leading cause of premature cardiovascular disease and the most common disorder of lipid metabolism in childhood. Early diagnosis of FH and an effective patient monitoring strategy are extremely promising for reducing the risk of atherosclerosis in the future.

Aim. Conduct and analyze the results of cascade screening along the “child–parent” path for the diagnosis of FH.

Materials and methods. The study was carried out in the period from December 2018 to August 2021 on the basis of Children's Republican Clinical Hospital, City Clinical Hospital No.7 in Kazan, Kazan State Medical University. Inclusion criteria: age 0–17 years inclusive, diagnosed with “Heterozygous form of familial hypercholesterolemia” in accordance with clinical guidelines according to the criteria of the Simon Broome Registry, informed consent for participation in the study of children and/or their parents. Exclusion criteria: underlying diseases/conditions, as well as drugs that may cause a secondary increase in low-density lipoprotein cholesterol.

Results. During this period, 34 children were identified with a diagnosis of heterozygous FH (mean age 8.7±3.6 years). After further examination of relatives, FH was diagnosed in 33 parents, 15 siblings, 56 relatives of the 2nd line of relationship. The average age of the parents was 38±4.3 years. In 20 (60.6%) of them ischemic heart disease was diagnosed, in 18 (54.5%) atherosclerosis of the brachiocephalic arteries. In addition, 10 (30%) patients required coronary angiography, 3 (9%) – coronary artery bypass grafting, 2 (6%) – stenting of coronary vessels.

Conclusion. The diagnostic result of the cascade screening along the “child–parent” path was 3 new cases of FH per one child-proband.