Innovative Technologies in Diagnosis and Treatment of Extreme Familial Hypercholesterolemia

Аннотация

The article reveals medical and social relevance of extreme familial hypercholesterolemia. It presents the main principles, innovative technologies and an algorithm of diagnosis, diagnostic verification, risk stratification of patients and optimization of the use of aggressive combined cholesterol-lowering drug treatment and precision of indications for plasma exchange and the lack of options.

Список литературы

1. Federal'naya sluzhba gosudarstvennoi statistiki Informatsiya o sotsial'no-ekonomicheskom polozhenii Rossii - 2013 g. http://www.gks.ru

2. Go AS, Mozaffarian D, Roger VL, Benjamin EJ, Berry JD, Dlaha MJ, Dai S, Ford ES, Fox CS, Franco S, Fullerton HJ, Gillespie C, Hallpern SM, Heit JA, Howard VJ, Huffman MD, Judd SJ, Kissela BM, Rittner SJ, Lackland DT, Lichtman JH, Lisabeth LD, Vackey RH, Magid DJ, Marcus GM, Marelli A, Matchar DB, McGuire DK, Mohler ER, Moy CS, Mussolino ME, Neumar RW, Nichol G, Pandey DK, Paynter NP, Reeves MJ, Sorlie PD, Stein D, Towfifhi A, Turan TN, Virani SS, Wong ND, Woo D, Turner MB. Heart disease and stroke statistics-2014 update: a report from the American Heart Association. Circulation. 2014;129(3):e28-e292, figures. World health report 2008.http://apps.who.int/gho/data/node.main.A865; 3.

3. Goldstein JK, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds), The Metabolic & Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001. p. 2863–2913.

4. Austin MA, Hutter CM, Zimmern RL, Humphries SE. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am J Epidemiol 2004;160:407–420.

5. Benn M, Watts GF, Tybjaerg-Hansen A, Nordestgaard BG. Familial hypercholesterolemia in the Danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication. J Clin Endocrinol Metab 2012;97:3956–3964

6. Neil HA, Hammond T, Huxley R, Matthews DR, Humphries SE. Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study. Br BMJ 2000;321:148.

7. Versmissen J, Oosterveer DM, Yazdanpanah M, Defesche JC, Basart DC, Liem AH, Heeringa J, Witteman JC, Lansberg PJ, Kastelein JJ, Sijbrands EJ. Efficacy of statins in familial hypercholesterolaemia: a long term cohort study. BMJ 2008;337:a2423

8. 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;357(9251):165-168.

9. Williams RR, Hunt SC, Schumacher MC. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol. 1993;72:171-6.

10. Harada-Shiba M, Arai H, Oikawa S, Ohta T, Okada T, Okamura T, Nohara A, Bujo H, Yokoto K, Wakatsuki A, Ishibashi S, Yamashita S: Guidelines for the management of familial hypercholesterolemia. J Atheroscler Thromb 2012;19(12):1043–60.

11. Civeira F, Ros E, Jarauta E, Plana N, Zambon D, Puzo J, Martinez de Esteban JP, Ferrando J, Zabala S, Almagro F, Gimeno JA, Masana L, Pocovi M. Comparison of genetic versus clinical diagnosis in familial hypercholesterolemia. Am J Cardiol 2008; 102:1187–1193. 1193.

12. Palacios L, Grandoso L, Cuevas N, Olano-Martin E, Martinez A, Tejedor D, Stef M. Molecular characterization of familial hypercholesterolemia in Spain. Atherosclerosis 2012; 221:137–142.

13. Raal FJ, Santos RD. Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment. Atherosclerosis 2012;223:262–268.

14. Thorsson B, Sigurdsson G, Gudnason V. Systematic family screening for familial hypercholesterolemia in Iceland. Arterioscler Thromb Vasc Biol 2003;23:335–338.

15. Huijgen R, Hutten BA, Kindt I, Vissers MN, Kastelein JJ. Discriminative ability of LDL-cholesterol to identify patients with familial hypercholesterolemia: a crosssectional study in 26,406 individuals tested for genetic FH. Circ Cardiovasc Genet 2012;5:354–359.

16. Starr B, Hadfield SG, Hutten BA, Lansberg PJ, Leren TP, Damgaard D, Neil HA, Humphries SE. Development of sensitive and specific age- and gender-specific lowdensity lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing. Clin Chem Lab Med 2008;46:791–803.

17. Nordestgaard B.G, Chapman MJ, Humphries SE, Ginsberg HN, Masana L, Descamps OS, Wiklund O, Hegele RA, Raal FJ, Defesche JC, Wiegman A, Santos RD, Watts GF, Parhofer KG, Hofingh GK, Kovanen PT, Boileau C, Avema M, Boren J, Bruckert E, Catapano AL, Kuinvenhoven JA, Pajukanta P, Ray K, Stalenhoef AF, Stroes E, Taskinen MR, Tybjaerg-Hansen A/ Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. European Heart Journal 2013 Dec;34(45):3478-90a. doi:10.1093/eurheartj/eht273:

18. Perk J, De BG, Gohlke H, Graham I, Reiner Z, Verschuren WM, Albus C, Benlian P, Boysen G, Cifkova R, Deaton C, Ebrahim S, Fisher M, Germano G, Hobbs R, Hoes A, Karadeniz S, Mezzani A, Prescott E, Ryden L, Scherer M, Syvanne M, Scholte Op Reimer WJ, Vrints C, Wood D, Zamorano JL, Zannad F. European Guidelines on cardiovascular disease prevention in clinical practice (version 2012): The Fifth Joint Task Force of the European Society of Cardiology and Other Societies on Cardiovascular Disease Prevention in Clinical Practice (constituted by representatives of nine societies and by invited experts). Atherosclerosis 2012;223:1–68.

19. Watts GF, Sullivan DR, Poplawski N, van BF, Hamilton-Craig I, Clifton PM, O’Brien R, BishopW, George P, Barter PJ, Bates T, Burnett JR, Coakley J, Davidson P, Emery J, Martin A, Farid W, Freeman L, Geelhoed E, Juniper A, Kidd A, Kostner K, Krass I, Livingston M, Maxwell S, O’Leary P, Owaimrin A, Redgrave TG, Reid N, Southwell L, Suthers G, Tonkin A, Towler S, Trent R. Familial hypercholesterolaemia: a model of care for Australasia. Atheroscler Suppl 2011;12:221–263.

20. Chapman MJ, Ginsberg HN, Amarenco P, Andreotti F, Boren J, Catapano AL, Descamps OS, Fisher E, Kovanen PT, Kuivenhoven JA, Lesnik P, Masana L, Nordestgaard BG, Ray KK, Reiner Z, Taskinen MR, Tokgozoglu L, Tybjaerg Hansen A, Watts GF. Triglyceride-rich lipoproteins and high-density lipoprotein cholesterol in patients at high risk of cardiovascular disease: evidence and guidance for management. Eur Heart J 2011;32:1345–1361.

21. Kraft HG, Lingenhel A, Raal FJ, Hohenegger M, Utermann G. Lipoprotein(a) in homozygous familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 2000;20:522–528.

22. Jansen AC, van Aalst-Cohen ES, Tanck MW, Trip MD, Lansberg PJ, Liem AH, van Lennep HW, Sijbrands EJ, Kastelein JJ. The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: data in 2400 patients. J Intern Med 2004;256:482–490.

23. Austin MA, Hutter CM, Zimmern RL, Humphries SE. Familial hypercholesterolemia and coronary heart disease: a HuGE association review. Am J Epidemiol. 2004;160(5):421-9.

24. Shal'nova SA, Konradi AO, KarpovYuA, Kontsevaya AV, Deev AD, Kapustina AV, Khudyakov MB, Shlyakhto EV, Boitsov SA. Analysis of cardiovascular diseases mortality-rate in 12 regions of the Russian Federationparticipating in the study “Epidemiology of cardiovascular diseases in different regions of Russia”.Rossiiskii kardiologicheskii zhurnal 2012, 5 (97): 6-11.

25. Horton JD, Cohen JC, Hobbs HH. PCSK9: a convertase that coordinates LDL catabolism. J Lipid Res 2009;50(Suppl): S172–S177.

26. Huijgen R, Hutten BA, Kindt I, Vissers MN, Kastelein JJ. Discriminative ability of LDL-cholesterol to identify patients with familial hypercholesterolemia: a crosssectional study in 26,406 individuals tested for genetic FH. Circ Cardiovasc Genet 2012;5:354–359. doi.org/10.1161/CIRCGENETICS.111.962458

27. Starr B, Hadfield SG, Hutten BA, Lansberg PJ, Leren TP, Damgaard D, Neil HA, Humphries SE. Development of sensitive and specific age- and gender-specific lowdensity lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing. Clin Chem Lab Med 2008;46:791–803. doi: 10.1515/CCLM.2008,135.

28. Thanassoulis G, Campbell CY, Owens DS, Smith JG, Smith AV, Peloso GM, Kerr KF, Pechlivanis S, Budoff MJ, Harris TB, Malhotra R, O’Brien KD, Kamstrup PR, Nordestgaard BG, Tybjaerg-Hansen A, Allison MA, Aspelund T, Criqui MH, Heckbert SR, Hwang SJ, Liu Y, Sjogren M, vander Pals J, Kalsch H, Muhleisen TW, Nothen MM, Cupples LA, Caslake M, Di AE, Danesh J, Rotter JI, Sigurdsson S, Wong Q, Erbel R, Kathiresan S, Melander O, Gudnason V, O’Donnell CJ, Post WS. Genetic associations with valvular calcification and aortic stenosis. N Engl J Med 2013;368:503–512. doi: 10.1056/NEJMoa1109034    

29. Civeira F. Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. Atherosclerosis 2004;173:55–68. doi: 10.1016/j.atherosclerosis.2003.11.010

30. Watts GF, Sullivan DR, Poplawski N, van BF, Hamilton-Craig I, Clifton PM, O’Brien R, BishopW, George P, Barter PJ, Bates T, Burnett JR, Coakley J, Davidson P, Emery J, Martin A, Farid W, Freeman L, Geelhoed E, Juniper A, Kidd A, Kostner K, Krass I, Livingston M, Maxwell S, O’Leary P, Owaimrin A, Redgrave TG, Reid N, Southwell L, Suthers G, Tonkin A, Towler S, Trent R. Familial hypercholesterolaemia: a model of care for Australasia. Atheroscler Suppl 2011;12:221–263.doi:org/10.1016/j.atherosclerosissup.2011.06.001

31. Goldberg AC, Hopkins PN, Toth PP, Ballantyne CM, Rader DJ, Robinson JG, Daniels SR, Gidding SS, de Ferranti SD, Ito MK, McGowan MP, Moriarty PM, Cromwell WC, Ross JL, Ziajka PE. 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;5: S1–S8. doi:10.1016/j.jacl.2011.04.003

32. Genetic testing in asymptomatic minors: recommendations of the European Society of Human Genetics. Eur J Hum Genet 2009;17:720–721.doi:10.1038/ejhg.2009.26

33. Raal FJ, Pilcher GJ, Panz VR, van Deventer HE, Brice BC, Blom DJ, Marais AD. Reduction in mortality in subjectswith homozygous familial hypercholesterolemia associated with advances in li pid-lowering therapy. Circulation. 2011; 124:22027. doi.org/10.1161/CIRCULATIONAHA.111.042523

34. Baigent C, Blackwell L, Emberson J, Holland LE, Reith C, Bhala N, Peto R, Barnes EH, Keech A, Simes J, Collins R. Efficacy and safety of more intensive lowering of LDL cholesterol: a meta-analysis of data from 170,000 participants in 26 randomised trials. Lancet 2010; 376:1670–1681.doi: http://dx.doi.org/10.1016/S0140-6736(10)61350-5

35. Reiner Z, Catapano AL, De BG, Graham I, Taskinen MR, Wiklund O, Agewall S, Alegria E, Chapman MJ, Durrington P, Erdine S, Halcox J, Hobbs R, Kjekshus J, Filardi PP, Riccardi G, Storey RF, Wood D. ESC/EAS Guidelines for the management of dyslipidaemias: the Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS). Eur Heart J 2011;32:1769–1818. doi: http://dx.doi.org/10.1093/eurheartj/ehr158

36. Minhas R, Humphries SE, Davies D, Lee P, McDowell I, Neil A, Qureshi N, Rowlands P, Seed M, Stracey H, Thorogood M, Watson M, Barbir M, Lucassen A, Parke A, Wierzbicki A, Williams H, Wray R, Shaw E, Turnbull N, DeMott K, Kathoria M, Nunes V, NhereraL, Ritchie G. UK NICE Guideline on Identification and Management of FH (CG71). Internet.http://www.nice.org.uk/CG071 30 March 2013.

37. Perk J, De BG, Gohlke H, Graham I, Reiner Z, Verschuren WM, Albus C, Benlian P, Boysen G, Cifkova R, Deaton C, Ebrahim S, Fisher M, Germano G, Hobbs R, Hoes A, Karadeniz S, Mezzani A, Prescott E, Ryden L, Scherer M, Syvanne M, Scholte Op Reimer WJ, Vrints C, Wood D, Zamorano JL, Zannad F. European Guidelines on cardiovascular disease prevention in clinical practice (version 2012): The Fifth Joint Task Force of the European Society of Cardiology and Other Societies on Cardiovascular Disease Prevention in Clinical Practice (constituted by representatives of nine societies and by invited experts). Atherosclerosis 2012;223:1–68.   doi: 10.1016/j.atherosclerosis.

38. Marks D, Thorogood M, Neil HA, Humphries SE. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis 2003;168:1–14.

39. Horton JD, Cohen JC, Hobbs HH. PCSK9: a convertase that coordinates LDL catabolism. J Lipid Res 2009;50 (Suppl): S172–S177. doi:10.1194/jlr.R800091-jI.R200

40. Safarova MS, Afanasieva OI. Application of lipoprotein apheresis in atherosclerosis and its complications. JAD. 2014;2:5-16.

41. Vishwanath R, Hemphill LC. Familial hypercholesterolemia and estimation of US patients eligible for low-density lipoprotein apheresis after maximally tolerated lipid-lowering therapy. J Clin Lipidol. 2014;8(1):18-28.doi: 10.1016/j.jacl.2013.11.002.

42. Stefanutti C, Morozzi C, Di GS. Italian multicenter study on low-density lipoprotein apheresis Working Group 2009 survey. Ther Apher Dial 2013;17:169–178.doi: 10.1111/j.1744-9987.2012.01142.

43. Ziajka PE. Management of patients with homozygous familial hypercholesterolemia. Am J  Manag Care. 2013 Nov;19 (13 Suppl):s.; 12.  

44. Stefanutti C, Julius U. Lipoprotein apheresis: state of the art and novelties. Atheroscler Suppl. 2013;14:19-27.

45. Thompson GR; HEART-UK LDL Apheresis Working Group.Recommendations for the use of LDL apheresis.Atherosclerosis. 2008;198:247-55.

46. Russian Society of Cardiology/Russian National Atherosclerosis Society/Russian Society of Cardiosomatic Rehabilitation and Secondary Prevention (RSC/RNAS/RusSCR) Guidelines. Diagnosis and correction of lipid disorders for the prevention and treatment of atherosclerosis. Russian recommendations.V revision. Atherosclerosis and Dyslipidaemias.2012;4:5-53 (in Russ.).

47. Marks D, Wonderling D, Thorogood M, Lambert H, Humphries SE, Neil HA. Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia. BMJ 2002;324:1303.doi: http://dx.doi.org/10.1136/bmj.324.7349.1303

48. Nherera LM. Saving lives, saving families: the health, social and economic advantages of detecting and treating familial hypercholesterolaemia (FH). Economics Chapter: Estimating the benefits from treatment and increasing the implementation of cascading screening. Internet.http://heartuk.org.uk/files/uploads/documents/HUK_HealthEconomics_FINAL2012_2702.pdf (17 December 2012).

49. Nherera L, Calvert NW, Demott K, Humphries SE, Neil HA, Minhas R, Thorogood M. Cost-effectiveness analysis of the use of a high-intensity statin compared to a low-intensity statin in the management of patients with familial hypercholesterolaemia. Curr Med Res Opin 2010;26:529–536. doi: 10.1185/03007990903494934

Для цитирования

Simerzin VV, Fatenkov OV, Gagloeva IV, Galkina MA, Panisheva YaA, Sytdykov IKh. Innovative Technologies in Diagnosis and Treatment of Extreme Familial Hypercholesterolemia. Science & Innovations in Medicine. 2016(4):23-30.

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