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ИНТЕРНЕТ-МАГАЗИН
Издательство Атмосфера


Телефон издательства

  
Лечебное дело
2019 / N 3

Диагностика и лечение гетерозиготной семейной гиперхолестеринемии
В.К. Зафираки, Е.Д. Космачева, И.А. Лузакова, Л.В. Шульженко, А.В. Сусеков

Список литературы

1. Iacocca MA, Chora JR, Carrié A, Freiberger T, Leigh SE, Defesche JC, Kurtz CL, DiStefano MT, Santos RD, Humphries SE, Mata P, Jannes CE, Hooper AJ, Wilemon KA, Benlian P, O’Connor R, Garcia J, Wand H, Tichy L, Sijbrands EJ, Hegele RA, Bourbon M, Knowles JW; ClinGen FH Variant Curation Expert Panel. ClinVar database of global familial hypercholesterolemia-associated DNA variants. Human Mutation 2018 Nov;39(11):1631-40.
2. Nordestgaard BG, 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, Hovingh GK, Kovanen PT, Boileau C, Averna M, Borén J, Bruckert E, Catapano AL, Kuivenhoven JA, Pajukanta P, Ray K, Stalenhoef AF, Stroes E, Taskinen MR, Tybjærg-Hansen A; European Atherosclerosis Society Consensus Panel. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. European Heart Journal 2013 Dec;34(45):3478-90a.
3. Austin MA, Hutter CM, Zimmern RL, Humphries SE. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. American Journal of Epidemiology 2004 Sep;160(5):407-20.
4. Marks D, Thorogood M, Neil HA, Humphries SE. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis 2003 May;168(1):1-14.
5. Akioyamen LE, Genest J, Shan SD, Reel RL, Albaum JM, Chu A, Tu JV. Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis. BMJ Open 2017 Sep;7(9):e016461.
6. Ershova AI, Meshkov AN, Bazhan SS, Storozhok MA, Efanov AY, Medvedeva IV, Indukaeva EV, Danilchenko YV, Kuzmina OK, Barbarash OL, Deev AD, Shalnova SA, Boytsov SA. The prevalence of familial hypercholesterolemia in the West Siberian region of the Russian Federation: a substudy of the ESSE-RF. PLoS One 2017 Jul;12(7):e0181148.
7. Henderson R, O’Kane M, McGilligan V, Watterson S. The genetics and screening of familial hypercholesterolaemia. Journal of Biomedical Science 2016 Apr;23:39.
8. Leigh S, Futema M, Whittall R, Taylor-Beadling A, Williams M, den Dunnen JT, Humphries SE. The UCL low-density lipoprotein receptor gene variant database: pathogenicity update. Journal of Medical Genetics 2017 Apr;54(4):217-23.
9. Talmud PJ, Shah S, Whittall R, Futema M, Howard P, Cooper JA, Harrison SC, Li K, Drenos F, Karpe F, Neil HA, Descamps OS, Langenberg C, Lench N, Kivimaki M, Whittaker J, Hingorani AD, Kumari M, Humphries SE. Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolemia: a case-control study. The Lancet 2013 Apr;381(9874):293-301.
10. Skålén K, Gustafsson M, Rydberg EK, Hultén LM, Wiklund O, Innerarity TL, Borén J. Subendothelial retention of atherogenic lipoproteins in early atherosclerosis. Nature 2002 Jun;417(6890):750-4.
11. Tabas I, Williams KJ, Boren J. Subendothelial lipoprotein retention as the initiating process in atherosclerosis: update and therapeutic implications. Circulation 2007 Oct;116(16):1832-44.
12. Descamps OS, Bruniaux M, Guilmot PF, Tonglet R, Heller FR. Lipoprotein concentrations in newborns are associated with allelic variations in their mothers. Atherosclerosis 2004 Feb;172(2):287-98.
13. Chapman MJ. Animal lipoproteins: chemistry, structure, and comparative aspects. The Journal of Lipid Research 1980 Sep;21(7):789-853.
14. Ference BA, Ginsberg HN, Graham I, Ray KK, Packard CJ, Bruckert E, Hegele RA, Krauss RM, Raal FJ, Schunkert H, Watts GF, Borén J, Fazio S, Horton JD, Masana L, Nicholls SJ, Nordestgaard BG, van de Sluis B, Taskinen MR, Tokgözoglu L, Landmesser U, Laufs U, Wiklund O, Stock JK, Chapman MJ, Catapano AL. Low-density lipoproteins cause atherosclerotic cardiovascular disease. 1. Evidence from genetic, epidemiologic, and clinical studies. A consensus statement from the European Atherosclerosis Society Consensus Panel. The European Heart Journal 2017 Aug;38(32):2459-72.
15. Vuorio AF, Turtola H, Piilahti KM, Repo P, Kanninen T, Kontula K. Familial hypercholesterolaemia in the Finnish north Karelia. A molecular, clinical and genealogical study. Arteriosclerosis, Thrombosis, and Vascular Biology 1997 Nov;17(11):3127-38.
16. Bourbon M, Alves AC, Alonso R, Mata N, Aguiar P, Padró T, Mata P. Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: the SAFEHEART registry. Atherosclerosis 2017 Jul;262:8-13.
17. Pérez de Isla L, Alonso R, Mata N, Saltijeral A, Muñiz O, Rubio-Marin P, Diaz-Diaz JL, Fuentes F, de Andrés R, Zambón D, Galiana J, Piedecausa M, Aguado R, Mosquera D, Vidal JI, Ruiz E, Manjón L, Mauri M, Padró T, Miramontes JP, Mata P; SAFEHEART Investigators. Coronary heart disease, peripheral arterial disease, and stroke in familial hypercholesterolaemia: insights from the SAFEHEART registry (Spanish Familial Hypercholesterolaemia Cohort Study). Arteriosclerosis, Thrombosis, and Vascular Biology 2016 Sep;36(9):2004-10.
18. Slack J. Risks of ischaemic heart-disease in familial hyperlipidemic states. The Lancet 1969 Dec;2(7635):1380-2.
19. Hopkins P, Stephenson S, Wu L, Riley WA, Xin Y, Hunt SC. Evaluation of coronary risk factors in patients with heterozygous familial hypercholesterolemia. The American Journal of Cardiology 2001 Mar;87(5):547-53.
20. Civeira F, Castillo S, Alonso R, Meriño-Ibarra E, Cenarro A, Artied M, Martín-Fuentes P, Ros E, Pocoví M, Mata P. Tendon xanthomas in familial hypercholesterolemia are associated with cardiovascular risk independently of the low-density lipoprotein receptor gene mutation. Arteriosclerosis, Thrombosis and Vascular Biology 2005 Sep;25(9):1960-5.
21. Рожкова Т.А., Амелюшкина В.А., Зубарева М.Ю., Титов В.Н. Ксантелазмы: холестериновые поражения кожи век при гиперлипидемии у пациентов в клинической амбулаторной практике. Пластическая хирургия и косметология 2015;1:97-105.
22. Mach F, Baigent C, Catapano AL, Koskinas KC, Casula M, Badimon L, Chapman MJ, De Backer GG, Delgado V, Ference BA, Graham IM, Halliday A, Landmesser U, Mihaylova B, Pedersen TR, Riccardi G, Richter DJ, Sabatine MS, Taskinen MR, Tokgozoglu L, Wiklund O; ESC Scientific Document Group. 2019 ESC/EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk. European Heart Journal 2020 Jan;41(1):111-88.
23. Watts GF, Gidding S, Wierzbicki AS, Toth PP, Alonso R, Brown WV, Bruckert E, Defesche J, Lin KK, Livingston M, Mata P, Parhofer KG, Raal FJ, Santos RD, Sijbrands EJ, Simpson WG, Sullivan DR, Susekov AV, Tomlinson B, Wiegman A, Yamashita S, Kastelein JJ. Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. International Journal of Cardiology 2014 Feb;171(3):309-25.
24. Task Force Members; Montalescot G, Sechtem U, Achenbach S, Andreotti F, Arden C, Budaj A, Bugiardini R, Crea F, Cuisset T, DiMario C, Ferreira JR, Gersh BJ, Gitt AK, Hulot JS, Marx N, Opie LH, Pfisterer M, Prescott E, Ruschitzka F, Sabaté M, Senior R, Taggart DP, van der Wall EE, Vrints CJ; ESC Committee for Practice Guidelines, Zamorano JL, Achenbach S, Baumgartner H, Bax JJ, Bueno H, Dean V, Deaton C, Erol C, Fagard R, Ferrari R, Hasdai D, Hoes AW, Kirchhof P, Knuuti J, Kolh P, Lancellotti P, Linhart A, Nihoyannopoulos P, Piepoli MF, Ponikowski P, Sirnes PA, Tamargo JL, Tendera M, Torbicki A, Wijns W, Windecker S; Document Reviewers, Knuuti J, Valgimigli M, Bueno H, Claeys MJ, Donner-Banzhoff N, Erol C, Frank H, Funck-Brentano C, Gaemperli O, Gonzalez-Juanatey JR, Hamilos M, Hasdai D, Husted S, James SK, Kervinen K, Kolh P, Kristensen SD, Lancellotti P, Maggioni AP, Piepoli MF, Pries AR, Romeo F, Rydén L, Simoons ML, Sirnes PA, Steg PG, Timmis A, Wijns W, Windecker S, Yildirir A, Zamorano JL. 2013 ESC guidelines on the management of stable coronary artery disease: the Task Force on the management of stable coronary artery disease of the European Society of Cardiology. European Heart Journal 2013 Oct;34(38):2949-3003.
25. Williams RR, Hunt SC, Schumacher MC, Hegele RA, Leppert MF, Ludwig EH, Hopkins PN. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. The American Journal of Cardiology 1993 Jul;72(2):171-6.
26. Wierzbicki AS, Humphries SE, Minhas R; Guideline Development Group. Familial hypercholesterolaemia: summary of NICE guidance. British Medical Journal 2008 Aug;337:a1095.
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 low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing. Clinical Chemistry and Laboratory Medicine 2008;46(6):791-803.
28. World Health Organization. Familial hypercholesterolaemia (FH). Report of a second WHO consultation, Geneva, 4 September 1998. Geneva, Switzerland: World Health Organization; 1999. 42 p.
29. Raal FJ, Hovingh GK, Catapano AL. Familial hypercholesterolemia treatments: guidelines and new therapies. Atherosclerosis 2018 Oct;277:483-92.
30. Raal FJ, Pappu AS, Illingworth DR, Pilcher GJ, Marais AD, Firth JC, Kotze MJ, Heinonen TM, Black DM. Inhibition of cholesterol synthesis by atorvastatin in homozygous familial hypercholesterolaemia. Atherosclerosis 2000 Jun;150(2):421-8.
31. Galema-Boers AM, Lenzen MJ, Engelkes SR, Sijbrands EJ, Roeters van Lennep JE. Cardiovascular risk in patients with familial hypercholesterolemia using optimal lipid-lowering therapy. Journal of Clinical Lipidology 2018 Mar-Apr;12(2):409-16.
32. Alonso R, Andres E, Mata N, Fuentes-Jiménez F, Badimón L, López-Miranda J, Padró T, Muñiz O, Díaz-Díaz JL, Mauri M, Ordovás JM, Mata P; SAFEHEART Investigators. Lipoprotein(a) levels in familial hypercholesterolemia: an important predictor of cardiovascular disease independent of the type of LDL receptor mutation. Journal of the American College of Cardiology 2014 May;63(19):1982-9.
33. Kastelein JJ, Akdim F, Stroes ES, Zwinderman AH, Bots ML, Stalenhoef AF, Visseren FL, Sijbrands EJ, Trip MD, Stein EA, Gaudet D, Duivenvoorden R, Veltri EP, Marais AD, de Groot E; ENHANCE Investigators. Simvastatin with or without ezetimibe in familial hypercholesterolemia. The New England Journal of Medicine 2008 Apr;358(14):1431-43.
34. Tsujita K, Sugiyama S, Sumida H, Shimomura H, Yamashita T, Yamanaga K, Komura N, Sakamoto K, Oka H, Nakao K, Nakamura S, Ishihara M, Matsui K, Sakaino N, Nakamura N, Yamamoto N, Koide S, Matsumura T, Fujimoto K, Tsunoda R, Morikami Y, Matsuyama K, Oshima S, Kaikita K, Hokimoto S, Ogawa H; PRECISE–IVUS Investigators. Impact of dual lipid-lowering strategy with ezetimibe and atorvastatin on coronary plaque regression in patients with percutaneous coronary intervention: the multicenter randomized controlled PRECISE-IVUS trial. Journal of the American College of Cardiology 2015 Aug;66(5):495-507.
35. Cannon CP, Blazing MA, Giugliano RP, McCagg A, White JA, Theroux P, Darius H, Lewis BS, Ophuis TO, Jukema JW, De Ferrari GM, Ruzyllo W, De Lucca P, Im K, Bohula EA, Reist C, Wiviott SD, Tershakovec AM, Musliner TA, Braunwald E, Califf RM; IMPROVE-IT Investigators. Ezetimibe added to statin therapy after acute coronary syndromes. The New England Journal of Medicine 2015 Jun;372(5):2387-97.
36. Landmesser U, Chapman MJ, Stock JK, Аmarenco P, Belch JJF, Borén J, Farnier M, Ference BA, Gielen S, Graham I, Grobbee DE, Hovingh GK, Lüscher TF, Piepoli MF, Ray KK, Stroes ES, Wiklund O, Windecker S, Zamorano JL, Pinto F, Tokgözoglu L, Bax JJ, Catapano AL. 2017 Update of ESC/EAS Task Force on practical clinical guidance for proprotein convertase subtilisin/ kexin type 9 inhibition in patients with atherosclerotic cardiovascular disease or in familial hypercholesterolaemia. European Heart Journal 2018 Apr;39(14):1131-43.
37. Abifadel M, Varret M, Rabes JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derré A, Villéger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf JM, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, Seidah NG, Boileau C. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nature Genetics 2003 Jun;34(2):154-6.
38. Benn M, Nordestgaard BG, Grande P, Schnohr P, Tybjaerg-Hansen A. PCSK9 R46L, low-density lipoprotein cholesterol levels, and risk of ischemic heart disease: 3 independent studies and meta-analyses. Journal of the American College of Cardiology 2010 Jun;55(25):2833-42.
39. Fitzgerald K, White S, Borodovsky A, Bettencourt BR, Strahs A, Clausen V, Wijngaard P, Horton JD, Taubel J, Brooks A, Fernando C, Kauffman RS, Kallend D, Vaishnaw A, Simon A. A highly durable RNAi therapeutic inhibitor of PCSK9. The New England Journal of Medicine 2017 Jan;376(1):41-51.
40. Kastelein JJ, Ginsberg HN, Langslet G, Hovingh GK, Ceska R, Dufour R, Blom D, Civeira F, Krempf M, Lorenzato C, Zhao J, Pordy R, Baccara-Dinet MT, Gipe DA, Geiger MJ, Farnier M. ODYSSEY FH I and FH II: 78 week results with alirocumab treatment in 735 patients with heterozygous familial hypercholesterolaemia. European Heart Journal 2015 Nov;36(43):2996-3003.
41. Stefanutti C, Julius U, Watts GF, Harada-Shiba M, Cossu M, Schettler VJ, De Silvestro G, Soran H, Van Lennep JR, Pisciotta L, Klör HU, Widhalm K, Moriarty PM; MIGHTY MEDIC Multinational Society. Toward an international consensus-Integrating lipoprotein apheresis and new lipid-lowering drugs. Journal of Clinical Lipidology 2017 Jul-Aug;11(4):858-71.e3.
42. Зырянов С.К., Дьяков И.Н., Карпов О.И. Прогнозный экономический эффект применения алирокумаба у пациентов с гиперхолестеринемией и высоким сердечно-сосудистым риском. Клиническая фармакология и терапия 2018;27(1):90-6.
43. Humphries SE, Norbury G, Leigh S, Hadfield SG, Nair D. What is the clinical utility of DNA testing in patients with familial hypercholesterolemia? Current Opinion in Lipidology 2008 Aug;19(4):362-8.
44. Khera A, Won HH, Peloso G, Lawson KS, Bartz TM, Deng X, van Leeuwen EM, Natarajan P, Emdin CA, Bick AG, Morrison AC, Brody JA, Gupta N, Nomura A, Kessler T, Duga S, Bis JC, van Duijn CM, Cupples LA, Psaty B, Rader DJ, Danesh J, Schunkert H, McPherson R, Farrall M, Watkins H, Lander E, Wilson JG, Correa A, Boerwinkle E, Merlini PA, Ardissino D, Saleheen D, Gabriel S, Kathiresan S. Diagnostic yield and clinical utility of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia. Journal of the American College of Cardiology 2016 Jun;67(22):2578-89.


References

1. Iacocca MA, Chora JR, Carrié A, Freiberger T, Leigh SE, Defesche JC, Kurtz CL, DiStefano MT, Santos RD, Humphries SE, Mata P, Jannes CE, Hooper AJ, Wilemon KA, Benlian P, O’Connor R, Garcia J, Wand H, Tichy L, Sijbrands EJ, Hegele RA, Bourbon M, Knowles JW; ClinGen FH Variant Curation Expert Panel. ClinVar database of global familial hypercholesterolemia-associated DNA variants. Human Mutation 2018 Nov;39(11):1631-40.
2. Nordestgaard BG, 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, Hovingh GK, Kovanen PT, Boileau C, Averna M, Borén J, Bruckert E, Catapano AL, Kuivenhoven JA, Pajukanta P, Ray K, Stalenhoef AF, Stroes E, Taskinen MR, Tybjærg-Hansen A; European Atherosclerosis Society Consensus Panel. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. European Heart Journal 2013 Dec;34(45):3478-90a.
3. Austin MA, Hutter CM, Zimmern RL, Humphries SE. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. American Journal of Epidemiology 2004 Sep;160(5):407-20.
4. Marks D, Thorogood M, Neil HA, Humphries SE. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis 2003 May;168(1):1-14.
5. Akioyamen LE, Genest J, Shan SD, Reel RL, Albaum JM, Chu A, Tu JV. Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis. BMJ Open 2017 Sep;7(9):e016461.
6. Ershova AI, Meshkov AN, Bazhan SS, Storozhok MA, Efanov AY, Medvedeva IV, Indukaeva EV, Danilchenko YV, Kuzmina OK, Barbarash OL, Deev AD, Shalnova SA, Boytsov SA. The prevalence of familial hypercholesterolemia in the West Siberian region of the Russian Federation: a substudy of the ESSE-RF. PLoS One 2017 Jul;12(7):e0181148.
7. Henderson R, O’Kane M, McGilligan V, Watterson S. The genetics and screening of familial hypercholesterolaemia. Journal of Biomedical Science 2016 Apr;23:39.
8. Leigh S, Futema M, Whittall R, Taylor-Beadling A, Williams M, den Dunnen JT, Humphries SE. The UCL low-density lipoprotein receptor gene variant database: pathogenicity update. Journal of Medical Genetics 2017 Apr;54(4):217-23.
9. Talmud PJ, Shah S, Whittall R, Futema M, Howard P, Cooper JA, Harrison SC, Li K, Drenos F, Karpe F, Neil HA, Descamps OS, Langenberg C, Lench N, Kivimaki M, Whittaker J, Hingorani AD, Kumari M, Humphries SE. Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolemia: a case-control study. The Lancet 2013 Apr;381(9874):293-301.
10. Skålén K, Gustafsson M, Rydberg EK, Hultén LM, Wiklund O, Innerarity TL, Borén J. Subendothelial retention of atherogenic lipoproteins in early atherosclerosis. Nature 2002 Jun;417(6890):750-4.
11. Tabas I, Williams KJ, Boren J. Subendothelial lipoprotein retention as the initiating process in atherosclerosis: update and therapeutic implications. Circulation 2007 Oct;116(16):1832-44.
12. Descamps OS, Bruniaux M, Guilmot PF, Tonglet R, Heller FR. Lipoprotein concentrations in newborns are associated with allelic variations in their mothers. Atherosclerosis 2004 Feb;172(2):287-98.
13. Chapman MJ. Animal lipoproteins: chemistry, structure, and comparative aspects. The Journal of Lipid Research 1980 Sep;21(7):789-853.
14. Ference BA, Ginsberg HN, Graham I, Ray KK, Packard CJ, Bruckert E, Hegele RA, Krauss RM, Raal FJ, Schunkert H, Watts GF, Borén J, Fazio S, Horton JD, Masana L, Nicholls SJ, Nordestgaard BG, van de Sluis B, Taskinen MR, Tokgözoglu L, Landmesser U, Laufs U, Wiklund O, Stock JK, Chapman MJ, Catapano AL. Low-density lipoproteins cause atherosclerotic cardiovascular disease. 1. Evidence from genetic, epidemiologic, and clinical studies. A consensus statement from the European Atherosclerosis Society Consensus Panel. The European Heart Journal 2017 Aug;38(32):2459-72.
15. Vuorio AF, Turtola H, Piilahti KM, Repo P, Kanninen T, Kontula K. Familial hypercholesterolaemia in the Finnish north Karelia. A molecular, clinical and genealogical study. Arteriosclerosis, Thrombosis, and Vascular Biology 1997 Nov;17(11):3127-38.
16. Bourbon M, Alves AC, Alonso R, Mata N, Aguiar P, Padró T, Mata P. Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: the SAFEHEART registry. Atherosclerosis 2017 Jul;262:8-13.
17. Pérez de Isla L, Alonso R, Mata N, Saltijeral A, Muñiz O, Rubio-Marin P, Diaz-Diaz JL, Fuentes F, de Andrés R, Zambón D, Galiana J, Piedecausa M, Aguado R, Mosquera D, Vidal JI, Ruiz E, Manjón L, Mauri M, Padró T, Miramontes JP, Mata P; SAFEHEART Investigators. Coronary heart disease, peripheral arterial disease, and stroke in familial hypercholesterolaemia: insights from the SAFEHEART registry (Spanish Familial Hypercholesterolaemia Cohort Study). Arteriosclerosis, Thrombosis, and Vascular Biology 2016 Sep;36(9):2004-10.
18. Slack J. Risks of ischaemic heart-disease in familial hyperlipidemic states. The Lancet 1969 Dec;2(7635):1380-2.
19. Hopkins P, Stephenson S, Wu L, Riley WA, Xin Y, Hunt SC. Evaluation of coronary risk factors in patients with heterozygous familial hypercholesterolemia. The American Journal of Cardiology 2001 Mar;87(5):547-53.
20. Civeira F, Castillo S, Alonso R, Meriño-Ibarra E, Cenarro A, Artied M, Martín-Fuentes P, Ros E, Pocoví M, Mata P. Tendon xanthomas in familial hypercholesterolemia are associated with cardiovascular risk independently of the low-density lipoprotein receptor gene mutation. Arteriosclerosis, Thrombosis and Vascular Biology 2005 Sep;25(9):1960-5.
21. Rozhkova TA, Amelyushkina VA, Zubareva MYu, Titov VN. Xanthelasma: cholesterol lesions of eyelid skin in patients with hyperlipidemia in clinical outpatient practice. Journal of Plastic Surgery and Cosmetology 2015;1:97-105 (In Russian).
22. Mach F, Baigent C, Catapano AL, Koskinas KC, Casula M, Badimon L, Chapman MJ, De Backer GG, Delgado V, Ference BA, Graham IM, Halliday A, Landmesser U, Mihaylova B, Pedersen TR, Riccardi G, Richter DJ, Sabatine MS, Taskinen MR, Tokgozoglu L, Wiklund O; ESC Scientific Document Group. 2019 ESC/EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk. European Heart Journal 2020 Jan;41(1):111-88.
23. Watts GF, Gidding S, Wierzbicki AS, Toth PP, Alonso R, Brown WV, Bruckert E, Defesche J, Lin KK, Livingston M, Mata P, Parhofer KG, Raal FJ, Santos RD, Sijbrands EJ, Simpson WG, Sullivan DR, Susekov AV, Tomlinson B, Wiegman A, Yamashita S, Kastelein JJ. Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. International Journal of Cardiology 2014 Feb;171(3):309-25.
24. Task Force Members; Montalescot G, Sechtem U, Achenbach S, Andreotti F, Arden C, Budaj A, Bugiardini R, Crea F, Cuisset T, DiMario C, Ferreira JR, Gersh BJ, Gitt AK, Hulot JS, Marx N, Opie LH, Pfisterer M, Prescott E, Ruschitzka F, Sabaté M, Senior R, Taggart DP, van der Wall EE, Vrints CJ; ESC Committee for Practice Guidelines, Zamorano JL, Achenbach S, Baumgartner H, Bax JJ, Bueno H, Dean V, Deaton C, Erol C, Fagard R, Ferrari R, Hasdai D, Hoes AW, Kirchhof P, Knuuti J, Kolh P, Lancellotti P, Linhart A, Nihoyannopoulos P, Piepoli MF, Ponikowski P, Sirnes PA, Tamargo JL, Tendera M, Torbicki A, Wijns W, Windecker S; Document Reviewers, Knuuti J, Valgimigli M, Bueno H, Claeys MJ, Donner-Banzhoff N, Erol C, Frank H, Funck-Brentano C, Gaemperli O, Gonzalez-Juanatey JR, Hamilos M, Hasdai D, Husted S, James SK, Kervinen K, Kolh P, Kristensen SD, Lancellotti P, Maggioni AP, Piepoli MF, Pries AR, Romeo F, Rydén L, Simoons ML, Sirnes PA, Steg PG, Timmis A, Wijns W, Windecker S, Yildirir A, Zamorano JL. 2013 ESC guidelines on the management of stable coronary artery disease: the Task Force on the management of stable coronary artery disease of the European Society of Cardiology. European Heart Journal 2013 Oct;34(38):2949-3003.
25. Williams RR, Hunt SC, Schumacher MC, Hegele RA, Leppert MF, Ludwig EH, Hopkins PN. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. The American Journal of Cardiology 1993 Jul;72(2):171-6.
26. Wierzbicki AS, Humphries SE, Minhas R; Guideline Development Group. Familial hypercholesterolaemia: summary of NICE guidance. British Medical Journal 2008 Aug;337:a1095.
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 low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing. Clinical Chemistry and Laboratory Medicine 2008;46(6):791-803.
28. World Health Organization. Familial hypercholesterolaemia (FH). Report of a second WHO consultation Geneva, 4 September 1998. Geneva, Switzerland: World Health Organization; 1999. 42 p.
29. Raal FJ, Hovingh GK, Catapano AL. Familial hypercholesterolemia treatments: guidelines and new therapies. Atherosclerosis 2018 Oct;277:483-92.
30. Raal FJ, Pappu AS, Illingworth DR, Pilcher GJ, Marais AD, Firth JC, Kotze MJ, Heinonen TM, Black DM. Inhibition of cholesterol synthesis by atorvastatin in homozygous familial hypercholesterolaemia. Atherosclerosis 2000 Jun;150(2):421-8.
31. Galema-Boers AM, Lenzen MJ, Engelkes SR, Sijbrands EJ, Roeters van Lennep JE. Cardiovascular risk in patients with familial hypercholesterolemia using optimal lipid-lowering therapy. Journal of Clinical Lipidology 2018 Mar-Apr;12(2):409-16.
32. Alonso R, Andres E, Mata N, Fuentes-Jiménez F, Badimón L, López-Miranda J, Padró T, Muñiz O, Díaz-Díaz JL, Mauri M, Ordovás JM, Mata P; SAFEHEART Investigators. Lipoprotein(a) levels in familial hypercholesterolemia: an important predictor of cardiovascular disease independent of the type of LDL receptor mutation. Journal of the American College of Cardiology 2014 May;63(19):1982-9.
33. Kastelein JJ, Akdim F, Stroes ES, Zwinderman AH, Bots ML, Stalenhoef AF, Visseren FL, Sijbrands EJ, Trip MD, Stein EA, Gaudet D, Duivenvoorden R, Veltri EP, Marais AD, de Groot E; ENHANCE Investigators. Simvastatin with or without ezetimibe in familial hypercholesterolemia. The New England Journal of Medicine 2008 Apr;358(14):1431-43.
34. Tsujita K, Sugiyama S, Sumida H, Shimomura H, Yamashita T, Yamanaga K, Komura N, Sakamoto K, Oka H, Nakao K, Nakamura S, Ishihara M, Matsui K, Sakaino N, Nakamura N, Yamamoto N, Koide S, Matsumura T, Fujimoto K, Tsunoda R, Morikami Y, Matsuyama K, Oshima S, Kaikita K, Hokimoto S, Ogawa H; PRECISE–IVUS Investigators. Impact of dual lipid-lowering strategy with ezetimibe and atorvastatin on coronary plaque regression in patients with percutaneous coronary intervention: the multicenter randomized controlled PRECISE-IVUS trial. Journal of the American College of Cardiology 2015 Aug;66(5):495-507.
35. Cannon CP, Blazing MA, Giugliano RP, McCagg A, White JA, Theroux P, Darius H, Lewis BS, Ophuis TO, Jukema JW, De Ferrari GM, Ruzyllo W, De Lucca P, Im K, Bohula EA, Reist C, Wiviott SD, Tershakovec AM, Musliner TA, Braunwald E, Califf RM; IMPROVE-IT Investigators. Ezetimibe added to statin therapy after acute coronary syndromes. The New England Journal of Medicine 2015 Jun;372(5):2387-97.
36. Landmesser U, Chapman MJ, Stock JK, Аmarenco P, Belch JJF, Borén J, Farnier M, Ference BA, Gielen S, Graham I, Grobbee DE, Hovingh GK, Lüscher TF, Piepoli MF, Ray KK, Stroes ES, Wiklund O, Windecker S, Zamorano JL, Pinto F, Tokgözoglu L, Bax JJ, Catapano AL. 2017 Update of ESC/EAS Task Force on practical clinical guidance for proprotein convertase subtilisin/ kexin type 9 inhibition in patients with atherosclerotic cardiovascular disease or in familial hypercholesterolaemia. European Heart Journal 2018 Apr;39(14):1131-43.
37. Abifadel M, Varret M, Rabes JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derré A, Villéger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf JM, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, Seidah NG, Boileau C. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nature Genetics 2003 Jun;34(2):154-6.
38. Benn M, Nordestgaard BG, Grande P, Schnohr P, Tybjaerg-Hansen A. PCSK9 R46L, low-density lipoprotein cholesterol levels, and risk of ischemic heart disease: 3 independent studies and meta-analyses. Journal of the American College of Cardiology 2010 Jun;55(25):2833-42.
39. Fitzgerald K, White S, Borodovsky A, Bettencourt BR, Strahs A, Clausen V, Wijngaard P, Horton JD, Taubel J, Brooks A, Fernando C, Kauffman RS, Kallend D, Vaishnaw A, Simon A. A highly durable RNAi therapeutic inhibitor of PCSK9. The New England Journal of Medicine 2017 Jan;376(1):41-51.
40. Kastelein JJ, Ginsberg HN, Langslet G, Hovingh GK, Ceska R, Dufour R, Blom D, Civeira F, Krempf M, Lorenzato C, Zhao J, Pordy R, Baccara-Dinet MT, Gipe DA, Geiger MJ, Farnier M. ODYSSEY FH I and FH II: 78 week results with alirocumab treatment in 735 patients with heterozygous familial hypercholesterolaemia. European Heart Journal 2015 Nov;36(43):2996-3003.
41. Stefanutti C, Julius U, Watts GF, Harada-Shiba M, Cossu M, Schettler VJ, De Silvestro G, Soran H, Van Lennep JR, Pisciotta L, Klör HU, Widhalm K, Moriarty PM; MIGHTY MEDIC Multinational Society. Toward an international consensus-Integrating lipoprotein apheresis and new lipid-lowering drugs. Journal of Clinical Lipidology 2017 Jul-Aug;11(4):858-71.e3.
42. Zyryanov SK, Dyakov IN, Karpov OI. Prognostic economic effect of alirocumab in patients with hypercholesterolemia and high cardiovascular risk. Clinical Pharmacology and Therapy 2018;27(1):90-6 (In Russian).
43. Humphries SE, Norbury G, Leigh S, Hadfield SG, Nair D. What is the clinical utility of DNA testing in patients with familial hypercholesterolemia? Current Opinion in Lipidology 2008 Aug;19(4):362-8.
44. Khera A, Won HH, Peloso G, Lawson KS, Bartz TM, Deng X, van Leeuwen EM, Natarajan P, Emdin CA, Bick AG, Morrison AC, Brody JA, Gupta N, Nomura A, Kessler T, Duga S, Bis JC, van Duijn CM, Cupples LA, Psaty B, Rader DJ, Danesh J, Schunkert H, McPherson R, Farrall M, Watkins H, Lander E, Wilson JG, Correa A, Boerwinkle E, Merlini PA, Ardissino D, Saleheen D, Gabriel S, Kathiresan S. Diagnostic yield and clinical utility of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia. Journal of the American College of Cardiology 2016 Jun;67(22):2578-89.
  

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