Parent-child cascade screening – an effective tool for early identification of patients with familial hypercholesterolemia

Introduction. Familial hypercholesterolemia is the most common monogenic disease in the population with a predominantly codominant type of inheritance. For the purpose of early detection of familial hypercholesterolemia, various screening methods are used, including the cascade screening method, which can be direct: from parent to child and reverse: from child to parent. Aim. To analyze the effectiveness of child-parent cascade screening for the early detection of new patients with FH.

Materials and methods. The study was conducted at the State Budgetary Healthcare Institution “Z.A. Bashlyaeva Children’s City Clinical Hospital of the Moscow Health Department” from January 2022 to August 2024. Child-parent cascade screening was performed in the families of 364 index patients (0–18 years old) with verified familial hypercholesterolemia.

Results. During the cascade screening, 581 new patients with familial hypercholesterolemia were identified, including 43 children (7.4%) aged 1 to 18 years, 28 young adults (4.82%) aged 18 to 30 years; 332 people (57.14%) aged 31 to 50 years and 178 people (30.64%) over 51 years of age.

Discussion. The use of child–parent cascade screening is an effective diagnostic tool engineered for early identification of patients with familial hypercholesterolemia. The effectiveness of cascade screening is limited by the method of communication with the index patient’s relatives. In our country, the only way to perform cascade screening is an indirect contact with family members through the index patient or their legal representatives.

Conclusion. Evaluation of the effectiveness of cascade screening allowed us to determine that there are 1.6 newly diagnosed patients per index patient. More than half (69.36%) of newly diagnosed patients were under 50 years of age. The advantage of the parent-child cascade screening option is the possibility of early detection of patients with familial hypercholesterolemia. This approach allows us to diagnose a significant number of new patients at a young age, when primary prevention of atherosclerotic cardiovascular diseases can bring the greatest benefit.

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