Скрининг семейной гиперхолестеринемии среди пациентов в возрасте до 40 лет, подвергнутых дуплексному сканированию cонных артерий, по данным локального регистра
Скрининг семейной гиперхолестеринемии среди пациентов в возрасте до 40 лет, подвергнутых дуплексному сканированию cонных артерий, по данным локального регистра
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Аннотация
Цель исследования – выявить пациентов с вероятной семейной гиперхолестеринемией (СГХС) среди пациентов регистра Дуплекс-2013 в возрасте до 40 лет, проанализировать у них показатели липидного спектра и данные дуплекcного сканирования (ДС) сонных артерий (СА), оценить динамику показателей липидного спектра у пациентов с СГХС при повторных лабораторных исследованиях.
Материалы и методы. Для проведения данного исследования использована база данных регистра Дуплекс-2013. Из 2550 пациентов для последующего анализа отобраны пациенты в возрасте до 40 лет. Группа исследования составила 192 человека.
Результаты. На основании критериев Simon Broome отобраны 20 пациентов, которые соответствовали диагнозу вероятной СГХС. Группа СГХС (n=20) и контрольная группа (n=172) имели достоверные различия по возрасту (35,1 ± 4,01 vs 32,62 ± 5,29, p=0,044), мужскому полу [18 (90%) из 20 vs 92 (53%) из 172, p=0,003], уровню общего холестерина (ОХС; 7,64 ± 0,63 vs 5,34 ± 0,91, p=0,0001) и холестерина (ХС) липопротеинов низкой плотности (ЛПНП) (5,45 ± 0,62 vs 3,28 ± 0,78, p=0,00001). При сравнении групп по комбинированному критерию атеросклероза толщина комплекса «интима– медиа» (ТИМ) >1,0 мм и/или атеросклеротическим бляшкам (АБ) в СА > 20% отмечено, что признаки атеросклероза СА чаще регистрировались в группе СГХС по сравнению с контролем (40% vs 26%). Анализ показателей ОХС и ХС ЛПНП в группе СГХС при повторных исследованиях через 2,5 года показал их значимую динамику (7,64 ± 0,63 vs 6,03 ± 1,04, p=0,007; 5,45 ± 0,63 vs 3,84 ± 1,24, p=0,035).
Заключение. Частота выявления СГХС в когорте исследования составила 1:10 (11% от всех пациентов). Таким образом, пациенты, направляемые на ДС СА, являются потенциальной мишенью для скрининга СГХС.
Ключевые слова: семейная гиперхолестеринемия, скрининг, общий холестерин, холестерин липопротеинов низкой плотности, каротидный атеросклероз, толщина «интима–медиа», дуплексное сканирование.
Materials and methods. The Duplex-2013 registry database was used for this study (n=2550). Patients under the age of 40 years were selected for follow-up analysis (n=192).
Results. 20 of them were selected on the basis of Simon Broome criteria as patients with possible FH. The FH group (n=20) and the control group (n=172) had significant differences in age (35.1 ± 4.01 vs. 32.62 ± 5.29, p=0.044), male gender (18 of 20 (90%) vs 92 of 172 (53%), p=0.003), TC (7.64 ± 0.63 vs 5.34 ± 0.91, p=0.0001) and LDL-C cholesterol (5.45 ± 0.62 vs 3.28 ± 0.78, p=0.00001). When comparing the groups by the combined criterion of atherosclerosis (IMT > 1.0 mm and / or atherosclerotic plaque in the carotid artery >20%), it was noted that signs of carotid atherosclerosis were more often recorded in the FH group compared with the control group (40% vs 26%). Repeated laboratory studies of TC and LDL-C in the FH group after 2.5 years showed their significant dynamics (7.64 ± 0.63 vs 6.03 ± 1.04, p=0.007, 5.45 ± 0.63 vs 3.84 ± 1.24, p=0.035).
Conclusions. The frequency of detection of FH in the cohort study was 1:10 (11% of all patients). Thus, patients referred for duplex scanning of carotid arteries can be a potential target for screening for FH.
Keywords: familial hypercholesterolemia, screening, total cholesterol, low density lipoprotein cholesterol, carotid atherosclerosis, intima media thickness, duplex scanning.
Материалы и методы. Для проведения данного исследования использована база данных регистра Дуплекс-2013. Из 2550 пациентов для последующего анализа отобраны пациенты в возрасте до 40 лет. Группа исследования составила 192 человека.
Результаты. На основании критериев Simon Broome отобраны 20 пациентов, которые соответствовали диагнозу вероятной СГХС. Группа СГХС (n=20) и контрольная группа (n=172) имели достоверные различия по возрасту (35,1 ± 4,01 vs 32,62 ± 5,29, p=0,044), мужскому полу [18 (90%) из 20 vs 92 (53%) из 172, p=0,003], уровню общего холестерина (ОХС; 7,64 ± 0,63 vs 5,34 ± 0,91, p=0,0001) и холестерина (ХС) липопротеинов низкой плотности (ЛПНП) (5,45 ± 0,62 vs 3,28 ± 0,78, p=0,00001). При сравнении групп по комбинированному критерию атеросклероза толщина комплекса «интима– медиа» (ТИМ) >1,0 мм и/или атеросклеротическим бляшкам (АБ) в СА > 20% отмечено, что признаки атеросклероза СА чаще регистрировались в группе СГХС по сравнению с контролем (40% vs 26%). Анализ показателей ОХС и ХС ЛПНП в группе СГХС при повторных исследованиях через 2,5 года показал их значимую динамику (7,64 ± 0,63 vs 6,03 ± 1,04, p=0,007; 5,45 ± 0,63 vs 3,84 ± 1,24, p=0,035).
Заключение. Частота выявления СГХС в когорте исследования составила 1:10 (11% от всех пациентов). Таким образом, пациенты, направляемые на ДС СА, являются потенциальной мишенью для скрининга СГХС.
Ключевые слова: семейная гиперхолестеринемия, скрининг, общий холестерин, холестерин липопротеинов низкой плотности, каротидный атеросклероз, толщина «интима–медиа», дуплексное сканирование.
________________________________________________
Materials and methods. The Duplex-2013 registry database was used for this study (n=2550). Patients under the age of 40 years were selected for follow-up analysis (n=192).
Results. 20 of them were selected on the basis of Simon Broome criteria as patients with possible FH. The FH group (n=20) and the control group (n=172) had significant differences in age (35.1 ± 4.01 vs. 32.62 ± 5.29, p=0.044), male gender (18 of 20 (90%) vs 92 of 172 (53%), p=0.003), TC (7.64 ± 0.63 vs 5.34 ± 0.91, p=0.0001) and LDL-C cholesterol (5.45 ± 0.62 vs 3.28 ± 0.78, p=0.00001). When comparing the groups by the combined criterion of atherosclerosis (IMT > 1.0 mm and / or atherosclerotic plaque in the carotid artery >20%), it was noted that signs of carotid atherosclerosis were more often recorded in the FH group compared with the control group (40% vs 26%). Repeated laboratory studies of TC and LDL-C in the FH group after 2.5 years showed their significant dynamics (7.64 ± 0.63 vs 6.03 ± 1.04, p=0.007, 5.45 ± 0.63 vs 3.84 ± 1.24, p=0.035).
Conclusions. The frequency of detection of FH in the cohort study was 1:10 (11% of all patients). Thus, patients referred for duplex scanning of carotid arteries can be a potential target for screening for FH.
Keywords: familial hypercholesterolemia, screening, total cholesterol, low density lipoprotein cholesterol, carotid atherosclerosis, intima media thickness, duplex scanning.
Список литературы
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2. de Ferranti SD, Rodday AM, Mendelson MM, Wong JB, Leslie LK, Sheldrick RC. Prevalence of Familial Hypercholesterolemia in the 1999 to 2012 United States National Health and Nutrition Examination Surveys (NHANES). Circulation. 2016 Mar 15;133(11):1067-72. PMID: 26976914. doi: 10.1161/CIRCULATIONAHA. 115.018791
3. De Backer G, Besseling J, Chapman J, Hovingh GK, Kastelein JJ, Kotseva K, Ray K, Reiner Ž, Wood D, De Bacquer D. EUROASPIRE Investigators. Prevalence and management of familial hypercholesterolaemia in coronary patients: An analysis of EUROASPIRE IV, a study of the European Society of Cardiology. Atherosclerosis. 2015 Jul;241(1):169-75. PMID: 25997074. doi: 10.1016/j.atherosclerosis.2015.04.809
4. Henderson R, O'Kane M, McGilligan V, Watterson S. The genetics and screening of familial hypercholesterolaemia. J Biomed Sci. 2016 Apr 16;23:39. PMID: 27084339 doi: 10.1186/s12929-016-0256-1
5. Umans-Eckenhausen MA, Defesche JC, Sijbrands EJ, Scheerder RL, Kastelein JJ. Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands. Lancet. 2001 Jan 20;357(9251):165-8. PMID: 11213091 doi: 10.1016/S0140-6736(00) 03587-X
6. Scientific Steering Committee on behalf of the Simon Broome Register Group. Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Atherosclerosis. 1999 Jan;142(1):105-12. PMID: 9920511
7. Williams RR, Hunt SC, Schumacher MC, Hegele RA, Leppert MF, et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol. 1993 Jul 15;72(2):171-6. PMID: 8328379
8. Morris JK, Wald DS, Wald NJ. The evaluation of cascade testing for familial hypercholesterolemia. Am J Med Genet A. 2012 Jan;158A(1):78-84. PMID: 22139944. doi: 10.1002/ajmg.a.34368
9. Goldberg AC, Hopkins PN, Toth PP, Ballantyne CM, Rader DJ, et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.
J Clin Lipidol. 2011 Jun;5(3 Suppl):S1-8. PMID: 21600525. doi: 10.1016/j.jacl.2011.04.003
10. Kusters DM, de Beaufort C, Widhalm K, Guardamagna O, Bratina N, Ose L & Wiegman A. Paediatric screening for hypercholesterolaemia in Europe. Arch Dis Child. 2012 Mar;97(3):272-6. PMID: 21949015. doi: 10.1136/archdischild-2011-300081
11. Klančar G, Grošelj U, Kovač J, Bratanič N, Bratina N, et al. Universal Screening for Familial Hypercholesterolemia in Children. J Am Coll Cardiol. 2015 Sep 15;66(11):1250-7. doi: 10.1016/j.jacc.2015.07.017 PMID: 26361156
12. Watts GF, Sullivan DR, Poplawski N, van Bockxmeer F, Hamilton-Craig I, et al. Familial Hypercholesterolaemia Australasia Network Consensus Group (Australian Atherosclerosis Society). Familial hypercholesterolaemia: a model of care for Australasia. Atheroscler Suppl. 2011 Oct;12(2):221-63. PMID: 21917530. doi: 10.1016/j.atherosclerosissup.2011.06.001
13. [Karpov YuA, Kukharchuk VV, Boytsov SA, Voevoda MI, Gafarov VV, et al. Consensus Statement of the Russian National Atherosclerosis Society (RNAS) Familial hypercholesterolemia in Russia: outstanding issues in diagnosis and management. J Atherosclerosis and Dyslipidemias. 2015;2(19):5-16 (In Russ.)].
14. Mancia G, De Backer G, Dominiczak A, et al. The task force for the management of arterial hypertension of the European Society of Hypertension, The task force for the management of arterial hypertension of the European Society of Cardiology. 2007 Guidelines for the management of arterial hypertension: The Task Force for the Management of Arterial Hypertension of the European Society of Hypertension (ESH) and of the European Society of Cardiology (ESC). Eur Heart J. 2007;28:1462-536.
15. [Safarova MS, Sergienko IV, Ezhov MV, Semenova AE, Kachkovskiy MA, et al. Russian research program for early diagnosis and treatment of familial hypercholesterolaemia: Rationale and Design of the Russian FH Registry (RuFH). J Atherosclerosis and Dyslipidemias. 2014;3(16):7-15 (In Russ.)].
16. Al-Rasadi K, Al-Waili K, Al-Sabti HA, Al-Hinai A, Al-Hashmi K, et al. Criteria for Diagnosis of Familial Hypercholesterolemia: A Comprehensive Analysis of the Different Guidelines, Appraising their Suitability in the Omani Arab Population. Oman Med J. 2014 Mar;29(2):85-91. PMID: 24715932. doi: 10.5001/omj.2014.22
17. Ahmad ZS, Andersen RL, Andersen LH, O'Brien EC, Kindt I, et al. US physician practices for diagnosing familial hypercholesterolemia: data from the CASCADE-FH registry. J Clin Lipidol. 2016 Sep-Oct;10(5):1223-9. PMID: 27678440. doi: 10.1016/j.jacl.2016.07.011
18. [Balakhonova TV, Kozlov SG, Makhmudova KhA, Tripoten MI, Lyakishev AA, Kukharchuk VV. Ultrasound assessment of carotid artery atherosclerosis and endothelial function in young and middle-aged men with coronary heart disease. Cardiovascular Therapy and Prevention. 2009;8(5):11-5 ( In Russ)].
19. [Kukharchuk VV, Malyshev PP, Meshkov AN. Familial Hypercholesterolemia. Contemporary Aspects of Diagnosis, Prevention, and Therapy. Kardiologiia. 2009;49(1):76-83 (In Russ.)].
20. Mandelshtam MYu, Vasilyev VB. Monogenic diseases – underestimated threat to public health. Meditsinskiy Akademicheskiy Zhurnal (Medical Academic Journal). 2008;8(2):3-13 [In Russ.].
21. [Gaĭsenok OV, Martsevich SIu, Kalashnikov SIu, Mazaev VP, Deev AD. Estimation of the informative value of carotid artery duplex scan within a complex verifying diagnostic procedure for coronary heart disease in practical public health. Profilakticheskaya meditsina. 2012;15(6):41-5 (In Russ.)].
22. Braamskamp MJ, Langslet G, McCrindle BW, Cassiman D, Francis GA, et al. Effect of Rosuvastatin on Carotid Intima-Media Thickness in Children With Heterozygous Familial Hypercholesterolemia: The CHARON Study (Hypercholesterolemia in Children and Adolescents Taking Rosuvastatin Open Label). Circulation. 2017 Jul 25;136(4):359-66. PMID: 28592434. doi: 10.1161/CIRCULATIONAHA.116.025158
23. Yong Q, Sun H, Li ZA, Lin J, Wang LY. The pathological changes of abdominal and peripheral arteries in familial hypercholesterolemia–the result of high-resolution color Doppler ultrasonography. [Article in Chinese] Zhonghua Xin Xue Guan Bing Za Zhi. 2005 Apr;33(4):340-2. PMID: 15932665
24. Lavrencic A, Kosmina B, Keber I, Videcnik V, Keber D. Carotid intima-media thickness in young patients with familial hypercholesterolaemia. Heart. 1996 Oct;76(4):321-5. PMID: 8983678
25. Ershova AI, Balakhonova TV, Meshkov AN, Rozhkova TA, Boytsov SA. Ultrasound markers that describe plaques are more sensitive than mean intima-media thickness in patients with familial hypercholesterolemia. Ultrasound Med Biol. 2012 Mar;38(3):417-22. PMID: 22261515. doi: 10.1016/j.ultrasmedbio.2011.11.014
26. Noto N, Okada T, Abe Y, Miyashita M, Kanamaru H, et al. Changes in the textural characteristics of intima-media complex in young patients with familial hypercholesterolemia: implication for visual inspection on B-mode ultrasound. J Am Soc Echocardiogr. 2011 Apr;24(4):438-43. doi: 10.1016/j.echo.2010.12.026. Epub 2011 Feb 15.
27. Clarke RE, Padayachee ST, Preston R, McMahon Z, Gordon M, et al. Effectiveness of alternative strategies to define index case phenotypes to aid genetic diagnosis of familial hypercholesterolaemia. Heart. 2013 Feb;99(3):175-80. PMID: 23213176. doi: 10.1136/heartjnl-2012-302917
2. de Ferranti SD, Rodday AM, Mendelson MM, Wong JB, Leslie LK, Sheldrick RC. Prevalence of Familial Hypercholesterolemia in the 1999 to 2012 United States National Health and Nutrition Examination Surveys (NHANES). Circulation. 2016 Mar 15;133(11):1067-72. PMID: 26976914. doi: 10.1161/CIRCULATIONAHA. 115.018791
3. De Backer G, Besseling J, Chapman J, Hovingh GK, Kastelein JJ, Kotseva K, Ray K, Reiner Ž, Wood D, De Bacquer D. EUROASPIRE Investigators. Prevalence and management of familial hypercholesterolaemia in coronary patients: An analysis of EUROASPIRE IV, a study of the European Society of Cardiology. Atherosclerosis. 2015 Jul;241(1):169-75. PMID: 25997074. doi: 10.1016/j.atherosclerosis.2015.04.809
4. Henderson R, O'Kane M, McGilligan V, Watterson S. The genetics and screening of familial hypercholesterolaemia. J Biomed Sci. 2016 Apr 16;23:39. PMID: 27084339 doi: 10.1186/s12929-016-0256-1
5. Umans-Eckenhausen MA, Defesche JC, Sijbrands EJ, Scheerder RL, Kastelein JJ. Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands. Lancet. 2001 Jan 20;357(9251):165-8. PMID: 11213091 doi: 10.1016/S0140-6736(00) 03587-X
6. Scientific Steering Committee on behalf of the Simon Broome Register Group. Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Atherosclerosis. 1999 Jan;142(1):105-12. PMID: 9920511
7. Williams RR, Hunt SC, Schumacher MC, Hegele RA, Leppert MF, et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol. 1993 Jul 15;72(2):171-6. PMID: 8328379
8. Morris JK, Wald DS, Wald NJ. The evaluation of cascade testing for familial hypercholesterolemia. Am J Med Genet A. 2012 Jan;158A(1):78-84. PMID: 22139944. doi: 10.1002/ajmg.a.34368
9. Goldberg AC, Hopkins PN, Toth PP, Ballantyne CM, Rader DJ, et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.
J Clin Lipidol. 2011 Jun;5(3 Suppl):S1-8. PMID: 21600525. doi: 10.1016/j.jacl.2011.04.003
10. Kusters DM, de Beaufort C, Widhalm K, Guardamagna O, Bratina N, Ose L & Wiegman A. Paediatric screening for hypercholesterolaemia in Europe. Arch Dis Child. 2012 Mar;97(3):272-6. PMID: 21949015. doi: 10.1136/archdischild-2011-300081
11. Klančar G, Grošelj U, Kovač J, Bratanič N, Bratina N, et al. Universal Screening for Familial Hypercholesterolemia in Children. J Am Coll Cardiol. 2015 Sep 15;66(11):1250-7. doi: 10.1016/j.jacc.2015.07.017 PMID: 26361156
12. Watts GF, Sullivan DR, Poplawski N, van Bockxmeer F, Hamilton-Craig I, et al. Familial Hypercholesterolaemia Australasia Network Consensus Group (Australian Atherosclerosis Society). Familial hypercholesterolaemia: a model of care for Australasia. Atheroscler Suppl. 2011 Oct;12(2):221-63. PMID: 21917530. doi: 10.1016/j.atherosclerosissup.2011.06.001
13. Карпов Ю.А., Кухарчук В.В., Бойцов С.А., Воевода М.И., Гафаров В.В. и др. Заключение совета экспертов Национального общества по изучению атеросклероза (НОА). Семейная гиперхолестеринемия в Российской Федерации: нерешенные проблемы диагностики и лечения. Атеросклероз и дислипидемии. 2015;2(19):5-16 [Karpov YuA, Kukharchuk VV, Boytsov SA, Voevoda MI, Gafarov VV, et al. Consensus Statement of the Russian National Atherosclerosis Society (RNAS) Familial hypercholesterolemia in Russia: outstanding issues in diagnosis and management. J Atherosclerosis and Dyslipidemias. 2015;2(19):5-16 (In Russ.)].
14. Mancia G, De Backer G, Dominiczak A, et al. The task force for the management of arterial hypertension of the European Society of Hypertension, The task force for the management of arterial hypertension of the European Society of Cardiology. 2007 Guidelines for the management of arterial hypertension: The Task Force for the Management of Arterial Hypertension of the European Society of Hypertension (ESH) and of the European Society of Cardiology (ESC). Eur Heart J. 2007;28:1462-536.
15. Сафарова М.С., Сергиенко И.В., Ежов М.В., Семенова А.Е., Качковский М.А. и др.; от имени коллектива исследователей. Российская научно-исследовательская программа по своевременной диагностике и лечению больных семейной гиперхолестеринемией: обоснование и дизайн российского регистра семейной гиперхолестеринемии (РоСГХС). Атеросклероз и дислипидемии. 2014;3(16):7-15 [Safarova MS, Sergienko IV, Ezhov MV, Semenova AE, Kachkovskiy MA, et al. Russian research program for early diagnosis and treatment of familial hypercholesterolaemia: Rationale and Design of the Russian FH Registry (RuFH). J Atherosclerosis and Dyslipidemias. 2014;3(16):7-15 (In Russ.)].
16. Al-Rasadi K, Al-Waili K, Al-Sabti HA, Al-Hinai A, Al-Hashmi K, et al. Criteria for Diagnosis of Familial Hypercholesterolemia: A Comprehensive Analysis of the Different Guidelines, Appraising their Suitability in the Omani Arab Population. Oman Med J. 2014 Mar;29(2):85-91. PMID: 24715932. doi: 10.5001/omj.2014.22
17. Ahmad ZS, Andersen RL, Andersen LH, O'Brien EC, Kindt I, et al. US physician practices for diagnosing familial hypercholesterolemia: data from the CASCADE-FH registry. J Clin Lipidol. 2016 Sep-Oct;10(5):1223-9. PMID: 27678440. doi: 10.1016/j.jacl.2016.07.011
18. Балахонова Т.В., Козлов С.Г., Махмудова Х.А., Трипотень М.И., Лякишев А.А., Кухарчук В.В. Ультразвуковая оценка атеросклероза сонных артерий и функции эндотелия у мужчин молодого и среднего возраста с ишемической болезнью сердца. Кардиоваскулярная терапия и профилактика. 2009;8(5):11-5 [Balakhonova TV, Kozlov SG, Makhmudova KhA, Tripoten MI, Lyakishev AA, Kukharchuk VV. Ultrasound assessment of carotid artery atherosclerosis and endothelial function in young and middle-aged men with coronary heart disease. Cardiovascular Therapy and Prevention. 2009;8(5):11-5 ( In Russ)].
19. Кухарчук В.В., Малышев П.П., Мешков А.Н. Семейная гиперхолестеринемия: современные аспекты диагностики, профилактики и терапии. Кардиология. 2009;49(1):76-83 [Kukharchuk VV, Malyshev PP, Meshkov AN. Familial Hypercholesterolemia. Contemporary Aspects of Diagnosis, Prevention, and Therapy. Kardiologiia. 2009;49(1):76-83 (In Russ.)].
20. Mandelshtam MYu, Vasilyev VB. Monogenic diseases – underestimated threat to public health. Meditsinskiy Akademicheskiy Zhurnal (Medical Academic Journal). 2008;8(2):3-13 [In Russ.]. Мандельштам М.Ю., Васильев В.Б. Моногенные болезни – недооцененная угроза здоровью населения. Медицинский академический журнал. 2008;8(2):3-13.
21. Гайсёнок О.В., Марцевич С.Ю., Калашников С.В., Мазаев В.П., Деев А.Д. Оценка информативности дуплексного сканирования сонных артерий в рамках комплексной методики верификации диагноза ИБС в условиях практического здравоохранения. Профилактическая медицина. 2012;15(6):41-5 [Gaĭsenok OV, Martsevich SIu, Kalashnikov SIu, Mazaev VP, Deev AD. Estimation of the informative value of carotid artery duplex scan within a complex verifying diagnostic procedure for coronary heart disease in practical public health. Profilakticheskaya meditsina. 2012;15(6):41-5 (In Russ.)].
22. Braamskamp MJ, Langslet G, McCrindle BW, Cassiman D, Francis GA, et al. Effect of Rosuvastatin on Carotid Intima-Media Thickness in Children With Heterozygous Familial Hypercholesterolemia: The CHARON Study (Hypercholesterolemia in Children and Adolescents Taking Rosuvastatin Open Label). Circulation. 2017 Jul 25;136(4):359-66. PMID: 28592434. doi: 10.1161/CIRCULATIONAHA.116.025158
23. Yong Q, Sun H, Li ZA, Lin J, Wang LY. The pathological changes of abdominal and peripheral arteries in familial hypercholesterolemia–the result of high-resolution color Doppler ultrasonography. [Article in Chinese] Zhonghua Xin Xue Guan Bing Za Zhi. 2005 Apr;33(4):340-2. PMID: 15932665
24. Lavrencic A, Kosmina B, Keber I, Videcnik V, Keber D. Carotid intima-media thickness in young patients with familial hypercholesterolaemia. Heart. 1996 Oct;76(4):321-5. PMID: 8983678
25. Ershova AI, Balakhonova TV, Meshkov AN, Rozhkova TA, Boytsov SA. Ultrasound markers that describe plaques are more sensitive than mean intima-media thickness in patients with familial hypercholesterolemia. Ultrasound Med Biol. 2012 Mar;38(3):417-22. PMID: 22261515. doi: 10.1016/j.ultrasmedbio.2011.11.014
26. Noto N, Okada T, Abe Y, Miyashita M, Kanamaru H, et al. Changes in the textural characteristics of intima-media complex in young patients with familial hypercholesterolemia: implication for visual inspection on B-mode ultrasound. J Am Soc Echocardiogr. 2011 Apr;24(4):438-43. doi: 10.1016/j.echo.2010.12.026. Epub 2011 Feb 15.
27. Clarke RE, Padayachee ST, Preston R, McMahon Z, Gordon M, et al. Effectiveness of alternative strategies to define index case phenotypes to aid genetic diagnosis of familial hypercholesterolaemia. Heart. 2013 Feb;99(3):175-80. PMID: 23213176. doi: 10.1136/heartjnl-2012-302917
________________________________________________
2. de Ferranti SD, Rodday AM, Mendelson MM, Wong JB, Leslie LK, Sheldrick RC. Prevalence of Familial Hypercholesterolemia in the 1999 to 2012 United States National Health and Nutrition Examination Surveys (NHANES). Circulation. 2016 Mar 15;133(11):1067-72. PMID: 26976914. doi: 10.1161/CIRCULATIONAHA. 115.018791
3. De Backer G, Besseling J, Chapman J, Hovingh GK, Kastelein JJ, Kotseva K, Ray K, Reiner Ž, Wood D, De Bacquer D. EUROASPIRE Investigators. Prevalence and management of familial hypercholesterolaemia in coronary patients: An analysis of EUROASPIRE IV, a study of the European Society of Cardiology. Atherosclerosis. 2015 Jul;241(1):169-75. PMID: 25997074. doi: 10.1016/j.atherosclerosis.2015.04.809
4. Henderson R, O'Kane M, McGilligan V, Watterson S. The genetics and screening of familial hypercholesterolaemia. J Biomed Sci. 2016 Apr 16;23:39. PMID: 27084339 doi: 10.1186/s12929-016-0256-1
5. Umans-Eckenhausen MA, Defesche JC, Sijbrands EJ, Scheerder RL, Kastelein JJ. Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands. Lancet. 2001 Jan 20;357(9251):165-8. PMID: 11213091 doi: 10.1016/S0140-6736(00) 03587-X
6. Scientific Steering Committee on behalf of the Simon Broome Register Group. Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Atherosclerosis. 1999 Jan;142(1):105-12. PMID: 9920511
7. Williams RR, Hunt SC, Schumacher MC, Hegele RA, Leppert MF, et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol. 1993 Jul 15;72(2):171-6. PMID: 8328379
8. Morris JK, Wald DS, Wald NJ. The evaluation of cascade testing for familial hypercholesterolemia. Am J Med Genet A. 2012 Jan;158A(1):78-84. PMID: 22139944. doi: 10.1002/ajmg.a.34368
9. Goldberg AC, Hopkins PN, Toth PP, Ballantyne CM, Rader DJ, et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.
J Clin Lipidol. 2011 Jun;5(3 Suppl):S1-8. PMID: 21600525. doi: 10.1016/j.jacl.2011.04.003
10. Kusters DM, de Beaufort C, Widhalm K, Guardamagna O, Bratina N, Ose L & Wiegman A. Paediatric screening for hypercholesterolaemia in Europe. Arch Dis Child. 2012 Mar;97(3):272-6. PMID: 21949015. doi: 10.1136/archdischild-2011-300081
11. Klančar G, Grošelj U, Kovač J, Bratanič N, Bratina N, et al. Universal Screening for Familial Hypercholesterolemia in Children. J Am Coll Cardiol. 2015 Sep 15;66(11):1250-7. doi: 10.1016/j.jacc.2015.07.017 PMID: 26361156
12. Watts GF, Sullivan DR, Poplawski N, van Bockxmeer F, Hamilton-Craig I, et al. Familial Hypercholesterolaemia Australasia Network Consensus Group (Australian Atherosclerosis Society). Familial hypercholesterolaemia: a model of care for Australasia. Atheroscler Suppl. 2011 Oct;12(2):221-63. PMID: 21917530. doi: 10.1016/j.atherosclerosissup.2011.06.001
13. [Karpov YuA, Kukharchuk VV, Boytsov SA, Voevoda MI, Gafarov VV, et al. Consensus Statement of the Russian National Atherosclerosis Society (RNAS) Familial hypercholesterolemia in Russia: outstanding issues in diagnosis and management. J Atherosclerosis and Dyslipidemias. 2015;2(19):5-16 (In Russ.)].
14. Mancia G, De Backer G, Dominiczak A, et al. The task force for the management of arterial hypertension of the European Society of Hypertension, The task force for the management of arterial hypertension of the European Society of Cardiology. 2007 Guidelines for the management of arterial hypertension: The Task Force for the Management of Arterial Hypertension of the European Society of Hypertension (ESH) and of the European Society of Cardiology (ESC). Eur Heart J. 2007;28:1462-536.
15. [Safarova MS, Sergienko IV, Ezhov MV, Semenova AE, Kachkovskiy MA, et al. Russian research program for early diagnosis and treatment of familial hypercholesterolaemia: Rationale and Design of the Russian FH Registry (RuFH). J Atherosclerosis and Dyslipidemias. 2014;3(16):7-15 (In Russ.)].
16. Al-Rasadi K, Al-Waili K, Al-Sabti HA, Al-Hinai A, Al-Hashmi K, et al. Criteria for Diagnosis of Familial Hypercholesterolemia: A Comprehensive Analysis of the Different Guidelines, Appraising their Suitability in the Omani Arab Population. Oman Med J. 2014 Mar;29(2):85-91. PMID: 24715932. doi: 10.5001/omj.2014.22
17. Ahmad ZS, Andersen RL, Andersen LH, O'Brien EC, Kindt I, et al. US physician practices for diagnosing familial hypercholesterolemia: data from the CASCADE-FH registry. J Clin Lipidol. 2016 Sep-Oct;10(5):1223-9. PMID: 27678440. doi: 10.1016/j.jacl.2016.07.011
18. [Balakhonova TV, Kozlov SG, Makhmudova KhA, Tripoten MI, Lyakishev AA, Kukharchuk VV. Ultrasound assessment of carotid artery atherosclerosis and endothelial function in young and middle-aged men with coronary heart disease. Cardiovascular Therapy and Prevention. 2009;8(5):11-5 ( In Russ)].
19. [Kukharchuk VV, Malyshev PP, Meshkov AN. Familial Hypercholesterolemia. Contemporary Aspects of Diagnosis, Prevention, and Therapy. Kardiologiia. 2009;49(1):76-83 (In Russ.)].
20. Mandelshtam MYu, Vasilyev VB. Monogenic diseases – underestimated threat to public health. Meditsinskiy Akademicheskiy Zhurnal (Medical Academic Journal). 2008;8(2):3-13 [In Russ.].
21. [Gaĭsenok OV, Martsevich SIu, Kalashnikov SIu, Mazaev VP, Deev AD. Estimation of the informative value of carotid artery duplex scan within a complex verifying diagnostic procedure for coronary heart disease in practical public health. Profilakticheskaya meditsina. 2012;15(6):41-5 (In Russ.)].
22. Braamskamp MJ, Langslet G, McCrindle BW, Cassiman D, Francis GA, et al. Effect of Rosuvastatin on Carotid Intima-Media Thickness in Children With Heterozygous Familial Hypercholesterolemia: The CHARON Study (Hypercholesterolemia in Children and Adolescents Taking Rosuvastatin Open Label). Circulation. 2017 Jul 25;136(4):359-66. PMID: 28592434. doi: 10.1161/CIRCULATIONAHA.116.025158
23. Yong Q, Sun H, Li ZA, Lin J, Wang LY. The pathological changes of abdominal and peripheral arteries in familial hypercholesterolemia–the result of high-resolution color Doppler ultrasonography. [Article in Chinese] Zhonghua Xin Xue Guan Bing Za Zhi. 2005 Apr;33(4):340-2. PMID: 15932665
24. Lavrencic A, Kosmina B, Keber I, Videcnik V, Keber D. Carotid intima-media thickness in young patients with familial hypercholesterolaemia. Heart. 1996 Oct;76(4):321-5. PMID: 8983678
25. Ershova AI, Balakhonova TV, Meshkov AN, Rozhkova TA, Boytsov SA. Ultrasound markers that describe plaques are more sensitive than mean intima-media thickness in patients with familial hypercholesterolemia. Ultrasound Med Biol. 2012 Mar;38(3):417-22. PMID: 22261515. doi: 10.1016/j.ultrasmedbio.2011.11.014
26. Noto N, Okada T, Abe Y, Miyashita M, Kanamaru H, et al. Changes in the textural characteristics of intima-media complex in young patients with familial hypercholesterolemia: implication for visual inspection on B-mode ultrasound. J Am Soc Echocardiogr. 2011 Apr;24(4):438-43. doi: 10.1016/j.echo.2010.12.026. Epub 2011 Feb 15.
27. Clarke RE, Padayachee ST, Preston R, McMahon Z, Gordon M, et al. Effectiveness of alternative strategies to define index case phenotypes to aid genetic diagnosis of familial hypercholesterolaemia. Heart. 2013 Feb;99(3):175-80. PMID: 23213176. doi: 10.1136/heartjnl-2012-302917
Авторы
О.В. ГАЙСЁНОК 1, П.А. КУРНОСОВ 2, А.С. ЛЕОНОВ 1, Д.А. ЗАТЕЙЩИКОВ 2
1 ФГБУ «Объединенная больница с поликлиникой» Управления делами Президента РФ, Москва, Россия;
2 ФГБУ ДПО «Центральная государственная медицинская академия» Управления делами Президента РФ, Москва, Россия
1 Federal State Budgtary Institution "United Hospital with a Polyclinic" of the Department of Presidential Affairs of the Russian Federation, Moscow, Russia;
2 Federal State Budgtary Institution "Central State Medical Academy" of the Department of Presidential Affairs of the Russian Federation, Moscow, Russia
1 ФГБУ «Объединенная больница с поликлиникой» Управления делами Президента РФ, Москва, Россия;
2 ФГБУ ДПО «Центральная государственная медицинская академия» Управления делами Президента РФ, Москва, Россия
________________________________________________
1 Federal State Budgtary Institution "United Hospital with a Polyclinic" of the Department of Presidential Affairs of the Russian Federation, Moscow, Russia;
2 Federal State Budgtary Institution "Central State Medical Academy" of the Department of Presidential Affairs of the Russian Federation, Moscow, Russia
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