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Targeted sequencing as an effective tool for systematic screening of familial hypercholesterolemia: a clinical case
https://doi.org/10.25557/2073-7998.2025.09.40-44
Abstract
Familial hypercholesterolemia (FH) is a common genetic disease characterized by high levels of total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) in blood. Despite the high prevalence of FH in the world and in Russia, the problem of insufficient detection of FH remains urgent, which leads to a higher incidence of early cardiovascular diseases in the risk group. The purpose of this work was to utilize targeted NGS-sequencing technology for the systematic screening of FH. A new familial case of FH associated with a pathogenic variant in exon 14 of the LDLR gene (p.Cys677Tyr) has been described. Proband: female, 30 years old, clinical diagnosis of FH, 15 points according to the diagnostic criteria of the Dutch Lipid Clinic Network. The initial level of LDL-C was 8,7 mmol/L, and LDL-C decreased to 3,1 mmol/l after appropriate therapy (rosuvastatin 10 mg+ezetimibe 10 mg). The prevalence of FH with insufficient diagnosis of the disease remain a significant problem in Russian medicine.Targeted NGS-panels are an economically feasible tool, while showing high efficiency in identifying patients with FH.
Supporting agencies: The work was supported by the RSF grant №25-25-00351.
About the Authors
A. D. Izyumchenko
I.P. Pavlov First Saint Petersburg State Medical University; Petersburg Nuclear Physics Institute named by B.P.Konstantinov of National Research Centre «Kurchatov Institute»
Russian Federation
Russian Federation
Artem D. Izyumchenko
6/8, L.Tolstogo st., St. Petersburg, 197101; Mkr. Orlova Rostcha, Gatchina, St. Petersburg, 188350
S. A. Urazgildeeva
Department for Atherosclerosis and Lipid Disorders of North-Western district scientific and clinical center named after L. G. Sokolov, Federal Medical and Biological Agency»; Scientific, Clinical and Educational Center «Cardiology» of St. Petersburg State University
Russian Federation
Russian Federation
4, Kultury pr., St. Petersburg, 194291; 20-1, Korablestroiteley st., Saint-Petersburg, 191226
M. N. Grunina
I.P. Pavlov First Saint Petersburg State Medical University; Petersburg Nuclear Physics Institute named by B.P.Konstantinov of National Research Centre «Kurchatov Institute»
Russian Federation
Russian Federation
6/8, L.Tolstogo st., St. Petersburg, 197101; Mkr. Orlova Rostcha, Gatchina, St. Petersburg, 188350
K. O. Tanayants
Petersburg Nuclear Physics Institute named by B.P.Konstantinov of National Research Centre «Kurchatov Institute»
Russian Federation
Russian Federation
Mkr. Orlova Rostcha, Gatchina, St. Petersburg, 188350
K. V. Dracheva
I.P. Pavlov First Saint Petersburg State Medical University; Petersburg Nuclear Physics Institute named by B.P.Konstantinov of National Research Centre «Kurchatov Institute»
Russian Federation
Russian Federation
6/8, L.Tolstogo st., St. Petersburg, 197101; Mkr. Orlova Rostcha, Gatchina, St. Petersburg, 188350
S. N. Pchelina
I.P. Pavlov First Saint Petersburg State Medical University; Petersburg Nuclear Physics Institute named by B.P.Konstantinov of National Research Centre «Kurchatov Institute»
Russian Federation
Russian Federation
6/8, L.Tolstogo st., St. Petersburg, 197101; Mkr. Orlova Rostcha, Gatchina, St. Petersburg, 188350
V. V. Miroshnikova
I.P. Pavlov First Saint Petersburg State Medical University; Petersburg Nuclear Physics Institute named by B.P.Konstantinov of National Research Centre «Kurchatov Institute»
Russian Federation
Russian Federation
6/8, L.Tolstogo st., St. Petersburg, 197101; Mkr. Orlova Rostcha, Gatchina, St. Petersburg, 188350
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Review
For citations:
Izyumchenko A.D., Urazgildeeva S.A., Grunina M.N., Tanayants K.O., Dracheva K.V., Pchelina S.N., Miroshnikova V.V. Targeted sequencing as an effective tool for systematic screening of familial hypercholesterolemia: a clinical case. Medical Genetics. 2025;24(9):40-44. (In Russ.) https://doi.org/10.25557/2073-7998.2025.09.40-44
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