Impact of hyperlipoproteinemia(a) on the diagnosis of familial hypercholesterolemia and cardiovascular risk assessment

Aim. To assess the contribution of extremely elevated Lipoprotein(a) [Lp(a)] level to cardiovascular risk stratification using the SCORE-2 scale and the likelihood of familial hypercholesterolemia (FH) diagnosis.   Material and methods. A retrospective cohort study included 45 patients (25 men) with...

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Main Authors: A. M. Namitokov, U. V. Chubykina, V. K. Zafiraki, M. V. Ezhov
Format: Article
Language:English
Published: Столичная издательская компания 2025-04-01
Series:Рациональная фармакотерапия в кардиологии
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Online Access:https://www.rpcardio.online/jour/article/view/3106
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author A. M. Namitokov
U. V. Chubykina
V. K. Zafiraki
M. V. Ezhov
author_facet A. M. Namitokov
U. V. Chubykina
V. K. Zafiraki
M. V. Ezhov
author_sort A. M. Namitokov
collection DOAJ
description Aim. To assess the contribution of extremely elevated Lipoprotein(a) [Lp(a)] level to cardiovascular risk stratification using the SCORE-2 scale and the likelihood of familial hypercholesterolemia (FH) diagnosis.   Material and methods. A retrospective cohort study included 45 patients (25 men) with hyperlipoproteinemia(a) from the federal registry "RENESSANS." Participants were over 40 years old and had Lp(a) levels ≥180 mg/dL. The diagnosis of heterozygous FH was confirmed using the Dutch Lipid Clinic Network (DLCN) criteria. Low-density lipoprotein cholesterol (LDL-C) levels were adjusted using Friedewald formula modified by Dahlen. Cardiovascular risk (SCORE-2) was calculated considering LDL-C levels before and after adjustment.   Results. Among the 45 patients, the LDL-C level calculated using Friedewald formula was 5.1 [3.17; 7.19] mmol/L. After adjustment with Dahlen’s modification, the LDL-C level decreased to 3.03 [1.54; 4.96] mmol/L, representing a significant reduction (by 2.07 mmol/L or 40.6 %, p < 0.001). Adjusted LDL-C levels affected the FH diagnosis in 8 (26 %) out of 31 patients. Incorporating Lp(a) into the SCORE-2 risk assessment significantly increased cardiovascular risk estimates. The median SCORE-2 value initially was 14 % [7; 20], which increased to 27.2 % [13.6; 54.5] after adjustment, representing a 94 % increase (p < 0.005).   Conclusion. Including Lp(a) in routine cardiovascular risk assessment and FH diagnosis is an important addition for more accurate risk stratification and appropriate pharmacological management. In patients with extreme hyperlipoproteinemia(a), LDL-C levels may be overestimated compared to true values, potentially affecting the accuracy of FH diagnosis and treatment strategies. Future multicenter studies should include larger and more diverse populations to validate these findings.
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spelling doaj-art-4a0d20eccbb347bda0ec99b06666ac8e2025-08-23T10:00:37ZengСтоличная издательская компанияРациональная фармакотерапия в кардиологии1819-64462225-36532025-04-01211475310.20996/1819-6446-2025-31062270Impact of hyperlipoproteinemia(a) on the diagnosis of familial hypercholesterolemia and cardiovascular risk assessmentA. M. Namitokov0U. V. Chubykina1V. K. Zafiraki2M. V. Ezhov3Scientific Research Institute — S. V. Ochapovsky Regional Clinical Hospital No 1; Kuban State Medical UniversityE. I. Chazov National Medical Research Center of CardiologyKuban State Medical UniversityE. I. Chazov National Medical Research Center of CardiologyAim. To assess the contribution of extremely elevated Lipoprotein(a) [Lp(a)] level to cardiovascular risk stratification using the SCORE-2 scale and the likelihood of familial hypercholesterolemia (FH) diagnosis.   Material and methods. A retrospective cohort study included 45 patients (25 men) with hyperlipoproteinemia(a) from the federal registry "RENESSANS." Participants were over 40 years old and had Lp(a) levels ≥180 mg/dL. The diagnosis of heterozygous FH was confirmed using the Dutch Lipid Clinic Network (DLCN) criteria. Low-density lipoprotein cholesterol (LDL-C) levels were adjusted using Friedewald formula modified by Dahlen. Cardiovascular risk (SCORE-2) was calculated considering LDL-C levels before and after adjustment.   Results. Among the 45 patients, the LDL-C level calculated using Friedewald formula was 5.1 [3.17; 7.19] mmol/L. After adjustment with Dahlen’s modification, the LDL-C level decreased to 3.03 [1.54; 4.96] mmol/L, representing a significant reduction (by 2.07 mmol/L or 40.6 %, p < 0.001). Adjusted LDL-C levels affected the FH diagnosis in 8 (26 %) out of 31 patients. Incorporating Lp(a) into the SCORE-2 risk assessment significantly increased cardiovascular risk estimates. The median SCORE-2 value initially was 14 % [7; 20], which increased to 27.2 % [13.6; 54.5] after adjustment, representing a 94 % increase (p < 0.005).   Conclusion. Including Lp(a) in routine cardiovascular risk assessment and FH diagnosis is an important addition for more accurate risk stratification and appropriate pharmacological management. In patients with extreme hyperlipoproteinemia(a), LDL-C levels may be overestimated compared to true values, potentially affecting the accuracy of FH diagnosis and treatment strategies. Future multicenter studies should include larger and more diverse populations to validate these findings.https://www.rpcardio.online/jour/article/view/3106lipoprotein (a)familial hypercholesterolemiascore-2friedwald formuladahlen’s correctionhyperlipoproteinemia (a)lipid profile
spellingShingle A. M. Namitokov
U. V. Chubykina
V. K. Zafiraki
M. V. Ezhov
Impact of hyperlipoproteinemia(a) on the diagnosis of familial hypercholesterolemia and cardiovascular risk assessment
Рациональная фармакотерапия в кардиологии
lipoprotein (a)
familial hypercholesterolemia
score-2
friedwald formula
dahlen’s correction
hyperlipoproteinemia (a)
lipid profile
title Impact of hyperlipoproteinemia(a) on the diagnosis of familial hypercholesterolemia and cardiovascular risk assessment
title_full Impact of hyperlipoproteinemia(a) on the diagnosis of familial hypercholesterolemia and cardiovascular risk assessment
title_fullStr Impact of hyperlipoproteinemia(a) on the diagnosis of familial hypercholesterolemia and cardiovascular risk assessment
title_full_unstemmed Impact of hyperlipoproteinemia(a) on the diagnosis of familial hypercholesterolemia and cardiovascular risk assessment
title_short Impact of hyperlipoproteinemia(a) on the diagnosis of familial hypercholesterolemia and cardiovascular risk assessment
title_sort impact of hyperlipoproteinemia a on the diagnosis of familial hypercholesterolemia and cardiovascular risk assessment
topic lipoprotein (a)
familial hypercholesterolemia
score-2
friedwald formula
dahlen’s correction
hyperlipoproteinemia (a)
lipid profile
url https://www.rpcardio.online/jour/article/view/3106
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AT vkzafiraki impactofhyperlipoproteinemiaaonthediagnosisoffamilialhypercholesterolemiaandcardiovascularriskassessment
AT mvezhov impactofhyperlipoproteinemiaaonthediagnosisoffamilialhypercholesterolemiaandcardiovascularriskassessment