Evaluation of the effectiveness of targeted screening to detect familial hypercholesterolemia in children
https://doi.org/10.21518/ms2025-284
Abstract
Introduction. Familial hypercholesterolemia (FH) is the most common hereditary disorder of lipid metabolism and a significant risk factor for the early development of cardiovascular diseases. Effective detection of FH in childhood allows timely initiation of therapy and significantly improves the prognosis.
Aim. To evaluate the effectiveness of targeted, universal and combined screening for the detection of new cases of familial hypercholesterolemia in children, including determining the sensitivity, specificity and predictive value of the methods.
Materials and methods. 521 children aged 11–13 years were examined. All participants underwent a questionnaire to identify a family history of cardiovascular diseases and a study of the lipid profile (TC, LDL, HDL, TG). The diagnosis of probable FH was established according to the Simon–Broome criteria. Sensitivity, specificity, positive and negative predictive values, as well as ROC analysis were used to evaluate the effectiveness.
Results. Targeted screening revealed 5 out of 15 cases of FH (sensitivity – 33.3%, specificity – 85.8%, PPV – 6.5%). Universal screening provided 100% sensitivity and specificity. The combined approach also showed 100% sensitivity with a specificity of 85.8% and a PPV of 17.2%. ROC analysis demonstrated the maximum diagnostic accuracy of the combined method (AUC = 1.00).
Conclusion. Universal and combined approaches are superior to targeted screening in terms of the effectiveness of detecting FH in the pediatric population. Combined screening makes it possible to achieve high-quality diagnostics with reasonable use of resources. The data obtained confirm the expediency of introducing expanded programs for the detection of FH in the framework of the prevention of cardiovascular diseases in children.
About the Authors
V. V. Pupykina
Russian Medical Academy of Continuous Professional Education
Russian Federation
Russian Federation
Viktoria V. Pupykina - Postgraduate Student of the Department of Pediatrics named after Academician G.N. Speransky, Russian Medical Academy of Continuing Professional Education.
2/1, Bldg. 1, Barrikadnaya St., Moscow, 125993
I. I. Pshenichnikova
Russian Medical Academy of Continuous Professional Education; Bashlyaeva Children’s City Clinical Hospital; Research Institute of Healthcare Organization and Medical Management
Russian Federation
Russian Federation
Irina I. Pshenichnikova - Cand. Sci. (Med.), Associate Professor of the Department of Pediatrics named after Academician G.N. Speransky, Russian Medical Academy of Continuing Professional Education; Pediatrician, Bashlyaeva Children’s City Clinical Hospital; Specialist of the Organizational and Methodical Department of Paediatrics, Research Institute of Healthcare Organization and Medical Management.
2/1, Bldg. 1, Barrikadnaya St., Moscow, 125993; 28, Geroyev Panfilovtsev St., Moscow, 125373; 9, Sharikopodshipnikovskaya St., Moscow, 115088
I. N. Zakharova
Russian Medical Academy of Continuous Professional Education
Russian Federation
Russian Federation
Irina N. Zakharova - Dr. Sci. (Med.), Professor, Head of the Department of Pediatrics named after G.N. Speransky, Russian Medical Academy of Continuous Professional Education.
2/1, Bldg. 1, Barrikadnaya St., Moscow, 125993
L. Yu. Maksimova
Moscow Cadet Corps “Boarding School for Pupils of the Ministry of Defense of the Russian Federation”
Russian Federation
Russian Federation
Larisa Yu. Maksimova - Dr. Sci. (Educ.), Ph. D. (Philol.), Honored Teacher of the Russian Federation, Head, Moscow Cadet Corps “Boarding School for Pupils of the Ministry of Defense of the Russian Federation”.
21, Polikarpov St., Moscow, 125284
L. I. Elezova
Central Clinical Health Resort for Children with Parents “Malakhovka”
Russian Federation
Russian Federation
Liubov I. Elezova - Cand. Sci. (Med.), Deputy Chief of Medical Officer, Central Clinical Health Resort for Children with Parents “Malakhovka”.
29, Kalinin St., Malakhovka Village, Moscow Region, 140033
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For citations:
Pupykina VV, Pshenichnikova II, Zakharova IN, Maksimova LY, Elezova LI. Evaluation of the effectiveness of targeted screening to detect familial hypercholesterolemia in children. Meditsinskiy sovet = Medical Council. 2025;(11):220-227. (In Russ.) https://doi.org/10.21518/ms2025-284
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