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Семейная гиперхолестеринемия у детей и подростков: особенности диагностики и лечения
Семейная гиперхолестеринемия у детей и подростков: особенности диагностики и лечения
Близнюк С.А., Чубыкина У.В., Ежов М.В. Семейная гиперхолестеринемия у детей и подростков: особенности диагностики и лечения. Педиатрия (Прил. к журн. Consilium Medicum). 2017; 4: 71–73.
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Материалы доступны только для специалистов сферы здравоохранения. Авторизуйтесь или зарегистрируйтесь.
Аннотация
Высокая частота фатальных осложнений атеросклероза, рост заболеваемости и смертности от ишемической болезни сердца по-прежнему остаются одними из самых актуальных и нерешенных задач. Высокая распространенность и низкая выявляемость больных с cемейной гиперхолестеринемией представляет собой важнейшую проблему в Российской Федерации, требующую создания новых и модернизации существующих программ скрининга. В статье представлен обзор современных исследований и рекомендаций, посвященных диагностике и лечению семейной гиперхолестеринемии у детей и подростков.
Ключевые слова: семейная гиперхолестеринемия, дети, скрининг, статины, аферез.
Key words: family hypercholesterolemia, children, screening, statins, apheresis.
Ключевые слова: семейная гиперхолестеринемия, дети, скрининг, статины, аферез.
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Key words: family hypercholesterolemia, children, screening, statins, apheresis.
Полный текст
Список литературы
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4. Humphries SE, Norbury G, Leigh S et al. What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia? Curr Opin Lipidol 2008; 19: 362–8.
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7. Klančar G, Grošelj U, Kovač J et al. Universal Screening for Familial Hypercholesterolemia in Children. J Am Coll Cardiol 2015; 66 (11): 1250–7.
8. Vuorio A, Kuoppala J, Kovanen PT et al. Statins for children with familial hypercholesterolemia. Cochrane Database Syst Rev 2017; 7: CD006401.
9. Cuchel M, Bruckert E, Henry NG et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial. Eur Heart J 2014; 35: 2146–57.
10. Raal FJ et al. Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial. Lancet 2014; 385 (9965): 341–50.
11. Raal FJ, Hovingh GK, Blom D et al. Long-term treatment with evolocumab added to conventional drug therapy, with or without apheresis, in patients with homozygous familial hypercholesterolaemia: an interim subset analysis of the open-label TAUSSIG study. Lancet Diabetes & Endocrinology 2017; 5 (4): 280–90.
12. Cuchel M, Bruckert E, Ginsberg HN et al., European Atherosclerosis Society Consensus Panelon Familial Hypercholesterolaemia. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Eur Heart J 2014; 35: 2146–57.
13. Raal FJ, Pilcher GJ, Panz VR et al. Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering therapy. Circulation 2011; 124: 2202–7.
14. Thompson GR. The evidence-base for the efficacy of lipoprotein apheresis in combating cardiovascular disease. Atheroscler Suppl 2013; 14: 67–70.
15. Schwartz J, Padmanabhan A, Aqui N et al. Guidelines on the Use of Therapeutic Apheresis in Clinical Practice-Evidence-Based Approach from the Writing Committee of the American Society for Apheresis: The Seventh Special Issue. J Clin Apher 2016; 31 (3): 149–62.
2. Sjouke B, Kusters DM, Kindt I et al. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome. Eur Heart J 2015; 36: 560–5.
3. Cuchel M, Bruckert E, Ginsberg HN et al., European Atherosclerosis Society Consensus Panel on Familial Hypercholesterolaemia. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Eur Heart J 2014; 35: 2146–57.
4. Humphries SE, Norbury G, Leigh S et al. What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia? Curr Opin Lipidol 2008; 19: 362–8.
5. Wiegman A, Gidding SS, Watts GF et al. Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment. Eur Heart J 2015; 36: 2425–37.
6. Wald DS, Bestwick JP, Wald NJ. Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis. BMJ 2007; 335: 599.
7. Klančar G, Grošelj U, Kovač J et al. Universal Screening for Familial Hypercholesterolemia in Children. J Am Coll Cardiol 2015; 66 (11): 1250–7.
8. Vuorio A, Kuoppala J, Kovanen PT et al. Statins for children with familial hypercholesterolemia. Cochrane Database Syst Rev 2017; 7: CD006401.
9. Cuchel M, Bruckert E, Henry NG et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial. Eur Heart J 2014; 35: 2146–57.
10. Raal FJ et al. Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial. Lancet 2014; 385 (9965): 341–50.
11. Raal FJ, Hovingh GK, Blom D et al. Long-term treatment with evolocumab added to conventional drug therapy, with or without apheresis, in patients with homozygous familial hypercholesterolaemia: an interim subset analysis of the open-label TAUSSIG study. Lancet Diabetes & Endocrinology 2017; 5 (4): 280–90.
12. Cuchel M, Bruckert E, Ginsberg HN et al., European Atherosclerosis Society Consensus Panelon Familial Hypercholesterolaemia. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Eur Heart J 2014; 35: 2146–57.
13. Raal FJ, Pilcher GJ, Panz VR et al. Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering therapy. Circulation 2011; 124: 2202–7.
14. Thompson GR. The evidence-base for the efficacy of lipoprotein apheresis in combating cardiovascular disease. Atheroscler Suppl 2013; 14: 67–70.
15. Schwartz J, Padmanabhan A, Aqui N et al. Guidelines on the Use of Therapeutic Apheresis in Clinical Practice-Evidence-Based Approach from the Writing Committee of the American Society for Apheresis: The Seventh Special Issue. J Clin Apher 2016; 31 (3): 149–62.
2. Sjouke B, Kusters DM, Kindt I et al. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome. Eur Heart J 2015; 36: 560–5.
3. Cuchel M, Bruckert E, Ginsberg HN et al., European Atherosclerosis Society Consensus Panel on Familial Hypercholesterolaemia. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Eur Heart J 2014; 35: 2146–57.
4. Humphries SE, Norbury G, Leigh S et al. What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia? Curr Opin Lipidol 2008; 19: 362–8.
5. Wiegman A, Gidding SS, Watts GF et al. Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment. Eur Heart J 2015; 36: 2425–37.
6. Wald DS, Bestwick JP, Wald NJ. Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis. BMJ 2007; 335: 599.
7. Klančar G, Grošelj U, Kovač J et al. Universal Screening for Familial Hypercholesterolemia in Children. J Am Coll Cardiol 2015; 66 (11): 1250–7.
8. Vuorio A, Kuoppala J, Kovanen PT et al. Statins for children with familial hypercholesterolemia. Cochrane Database Syst Rev 2017; 7: CD006401.
9. Cuchel M, Bruckert E, Henry NG et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial. Eur Heart J 2014; 35: 2146–57.
10. Raal FJ et al. Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial. Lancet 2014; 385 (9965): 341–50.
11. Raal FJ, Hovingh GK, Blom D et al. Long-term treatment with evolocumab added to conventional drug therapy, with or without apheresis, in patients with homozygous familial hypercholesterolaemia: an interim subset analysis of the open-label TAUSSIG study. Lancet Diabetes & Endocrinology 2017; 5 (4): 280–90.
12. Cuchel M, Bruckert E, Ginsberg HN et al., European Atherosclerosis Society Consensus Panelon Familial Hypercholesterolaemia. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Eur Heart J 2014; 35: 2146–57.
13. Raal FJ, Pilcher GJ, Panz VR et al. Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering therapy. Circulation 2011; 124: 2202–7.
14. Thompson GR. The evidence-base for the efficacy of lipoprotein apheresis in combating cardiovascular disease. Atheroscler Suppl 2013; 14: 67–70.
15. Schwartz J, Padmanabhan A, Aqui N et al. Guidelines on the Use of Therapeutic Apheresis in Clinical Practice-Evidence-Based Approach from the Writing Committee of the American Society for Apheresis: The Seventh Special Issue. J Clin Apher 2016; 31 (3): 149–62.
________________________________________________
2. Sjouke B, Kusters DM, Kindt I et al. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome. Eur Heart J 2015; 36: 560–5.
3. Cuchel M, Bruckert E, Ginsberg HN et al., European Atherosclerosis Society Consensus Panel on Familial Hypercholesterolaemia. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Eur Heart J 2014; 35: 2146–57.
4. Humphries SE, Norbury G, Leigh S et al. What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia? Curr Opin Lipidol 2008; 19: 362–8.
5. Wiegman A, Gidding SS, Watts GF et al. Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment. Eur Heart J 2015; 36: 2425–37.
6. Wald DS, Bestwick JP, Wald NJ. Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis. BMJ 2007; 335: 599.
7. Klančar G, Grošelj U, Kovač J et al. Universal Screening for Familial Hypercholesterolemia in Children. J Am Coll Cardiol 2015; 66 (11): 1250–7.
8. Vuorio A, Kuoppala J, Kovanen PT et al. Statins for children with familial hypercholesterolemia. Cochrane Database Syst Rev 2017; 7: CD006401.
9. Cuchel M, Bruckert E, Henry NG et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial. Eur Heart J 2014; 35: 2146–57.
10. Raal FJ et al. Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial. Lancet 2014; 385 (9965): 341–50.
11. Raal FJ, Hovingh GK, Blom D et al. Long-term treatment with evolocumab added to conventional drug therapy, with or without apheresis, in patients with homozygous familial hypercholesterolaemia: an interim subset analysis of the open-label TAUSSIG study. Lancet Diabetes & Endocrinology 2017; 5 (4): 280–90.
12. Cuchel M, Bruckert E, Ginsberg HN et al., European Atherosclerosis Society Consensus Panelon Familial Hypercholesterolaemia. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Eur Heart J 2014; 35: 2146–57.
13. Raal FJ, Pilcher GJ, Panz VR et al. Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering therapy. Circulation 2011; 124: 2202–7.
14. Thompson GR. The evidence-base for the efficacy of lipoprotein apheresis in combating cardiovascular disease. Atheroscler Suppl 2013; 14: 67–70.
15. Schwartz J, Padmanabhan A, Aqui N et al. Guidelines on the Use of Therapeutic Apheresis in Clinical Practice-Evidence-Based Approach from the Writing Committee of the American Society for Apheresis: The Seventh Special Issue. J Clin Apher 2016; 31 (3): 149–62.
Авторы
С.А.Близнюк, У.В.Чубыкина, М.В.Ежов*
Институт клинической кардиологии им. А.Л.Мясникова ФГБУ «Национальный медицинский исследовательский центр кардиологии» Минздрава России. 121552, Россия, Москва, ул. 3-я Черепковская, д. 15А
*Marat_Ezhov@mail.ru
A.L.Myasnikov Institute of Clinical Cardiology National Medical Research Center of Cardiology of the Ministry of Health of the Russian Federation. 121552, Russian Federation, Moscow, ul. 3-ia Cherepkovskaia, d. 15A
*Marat_Ezhov@mail.ru
Институт клинической кардиологии им. А.Л.Мясникова ФГБУ «Национальный медицинский исследовательский центр кардиологии» Минздрава России. 121552, Россия, Москва, ул. 3-я Черепковская, д. 15А
*Marat_Ezhov@mail.ru
________________________________________________
A.L.Myasnikov Institute of Clinical Cardiology National Medical Research Center of Cardiology of the Ministry of Health of the Russian Federation. 121552, Russian Federation, Moscow, ul. 3-ia Cherepkovskaia, d. 15A
*Marat_Ezhov@mail.ru
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