Screening of familial hypercholesterolemia among patients in age under 40 years old exposed by duplex scanning of carotid arteries, by the local registry data


Cite item

Full Text

Abstract

The aim of the study - to identify patients with probable FH among Duplex-2013 registry patients under the age of 40 years, to analyze their lipid spectrum and duplex carotid artery data, to evaluate the changes of their lipid spectrum parameters. 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.

About the authors

O V Gaisenok

Federal State Budgtary Institution "United Hospital with a Polyclinic" of the Department of Presidential Affairs of the Russian Federation

Email: ovgaisenok@fgu-obp.ru
к.м.н., зав. отд-нием общей кардиологии Moscow, Russia

P A Kurnosov

Federal State Budgtary Institution "Central State Medical Academy" of the Department of Presidential Affairs of the Russian Federation

ординатор каф. анестезиологии и реаниматологии Moscow, Russia

A S Leonov

Federal State Budgtary Institution "United Hospital with a Polyclinic" of the Department of Presidential Affairs of the Russian Federation

врач-терапевт отд-ния общей кардиологии Moscow, Russia

D A Zateyshchikov

Federal State Budgtary Institution "Central State Medical Academy" of the Department of Presidential Affairs of the Russian Federation

д.м.н., проф., зав. каф. терапии, кардиологии и функциональной диагностики с курсом нефрологии ФГБУ ДПО «Центральная государственная медицинская академия» УД Президента РФ, руководитель первичного сосудистого отд-ния ГБУЗ «Городская клиническая больница №51 ДЗ г. Москвы» Moscow, Russia

References

  1. Singh S, Bittner V. Familial hypercholesterolemia - epidemiology, diagnosis, and screening. Curr Atheroscler Rep. 2015;17(2):482. PMID: 25612857. doi: 10.1007/s11883-014-0482-5
  2. de Ferranti S.D, Rodday A.M, Mendelson M.M, Wong J.B, Leslie L.K, Sheldrick R.C. 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 G.K, Kastelein J.J, 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, Mc Gilligan 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 M.A, Defesche J.C, Sijbrands E.J, Scheerder R.L, Kastelein J.J. 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 R.R, Hunt S.C, Schumacher M.C, Hegele R.A, Leppert M.F, 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 J.K, Wald D.S, Wald N.J. 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 A.C, Hopkins P.N, Toth P.P, Ballantyne C.M, Rader D.J, 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 D.M, 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 G.F, Sullivan D.R, 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
  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
  16. Al-Rasadi K, Al-Waili K, Al-Sabti H.A, 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 Z.S, Andersen R.L, Andersen L.H, O'Brien E.C, 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
  19. Кухарчук В.В., Малышев П.П., Мешков А.Н. Семейная гиперхолестеринемия: современные аспекты диагностики, профилактики и терапии. Кардиология. 2009;49(1):76-83
  20. 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
  22. Braamskamp M.J, Langslet G, Mc Crindle B.W, Cassiman D, Francis G.A, 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 Z.A, Lin J, Wang L.Y. 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 A.I, Balakhonova T.V, Meshkov A.N, Rozhkova T.A, Boytsov S.A. 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 R.E, Padayachee S.T, Preston R, Mc Mahon 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

Copyright (c) 2018 Consilium Medicum

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
 
 


This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies