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Семейная хиломикронемия у детей и подростков: диагностика и лечение
Семейная хиломикронемия у детей и подростков: диагностика и лечение
Пшеничникова И.И., Захарова И.Н., Османов И.М., Трунина И.И., Пупыкина В.В., Арсельгова И.Х.-Б., Коба Ю.В., Бочарова Т.И., Абазова А.Р. Семейная хиломикронемия у детей и подростков: диагностика и лечение. Педиатрия. Consilium Medicum. 2022;4:358–360. DOI: 10.26442/26586630.2022.4.201989
© ООО «КОНСИЛИУМ МЕДИКУМ», 2022 г.
© ООО «КОНСИЛИУМ МЕДИКУМ», 2022 г.
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Аннотация
Семейная хиломикронемия является редким наследственным заболеванием. Рецессивные мутации в генах, кодирующих липопротеинлипазу или белки-модуляторы, приводят к потере функции фермента. Нарушается удаление из плазмы липопротеинов, богатых триглицеридами. На этом фоне развивается тяжелая гипертриглицеридемия и резко возрастает риск развития острого панкреатита. Основой лечения пациентов, страдающих семейной хиломикронемией, является специализированная диета с очень низким содержанием жиров.
Ключевые слова: семейная хиломикронемия, хиломикронемия, дефицит липопротеинлипазы, гиперлипопротеинемия 1-го типа, гиперлипопротеинемия, гипертриглицеридемия, низкожировая диета, диетические рекомендации, панкреатит
Keywords: familial chylomicronemia syndrome, chylomicronemia, lipoprotein lipase deficiency, hyperlipoproteinemia type 1, hyperlipoproteinemia, hypertriglyceridemia, low-fat diet, dietary guidelines, pancreatitis
Ключевые слова: семейная хиломикронемия, хиломикронемия, дефицит липопротеинлипазы, гиперлипопротеинемия 1-го типа, гиперлипопротеинемия, гипертриглицеридемия, низкожировая диета, диетические рекомендации, панкреатит
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Keywords: familial chylomicronemia syndrome, chylomicronemia, lipoprotein lipase deficiency, hyperlipoproteinemia type 1, hyperlipoproteinemia, hypertriglyceridemia, low-fat diet, dietary guidelines, pancreatitis
Полный текст
Список литературы
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2. Pouwels ED, Blom DJ, Firth JC, et al. Severe Hypertriglyceridaemia as a result of Familial Chylomicronaemia. S Afr Med J. 2008;98(2):105-8.
3. Gotoda T, Shirai K, Ohta T, et al. Diagnosis and management of type I and type V hyperlipoproteinemia. J Atheroscler Thromb. 2012;19(1):1-12.
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12. Gaudet D, Méthot J, Déry S, et al. Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPLS447X) gene therapy for lipoprotein lipase deficiency: an open-label trial. Gene Ther. 2013;20(4):361-9.
13. Davidson M, Stevenson M, Hsieh A, et al. The burden of familial chylomicronemia syndrome: interim results from the IN-FOCUS study. Expert Rev Cardiovasc Ther. 2017;15(5):415-23.
14. Brunzell JD. Familial lipoprotein lipase deficiency, apo C-II deficiency, and hepatic lipase deficiency. The metabolic and molecular basis of inherited disease. 2001.
15. Pierce J, Patel T, Scott C. Eruptive Xanthomas. Mayo Clin Proc. 2021;96(12):3097-8.
16. Santos MA, Foulke G. Koebnerization and eruptive xanthomas. J Gen Intern Med. 2019;34(9):1947-8.
17. Viljoen A, Wierzbicki AS. Diagnosis and treatment of severe hypertriglyceridemia. Expert Rev Cardiovasc Ther. 2012;10(4):505-14.
18. Moulin P, Dufour R, Averna M, et al. Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): expert panel recommendations and proposal of an “FCS score”. Atherosclerosis. 2018;275:265-72.
19. Lee WY, Jung CH, Park JS, et al. Effects of smoking, alcohol, exercise, education, and family history on the metabolic syndrome as defined by the ATP III. Diabetes Res Clin Pract. 2005:67:70-7.
20. Williams L, Rhodes KS, Karmally W, Thampi S. Familial chylomicronemia syndrome: bringing to life dietary recommendations throughout the life span. J Clin Lipidol. 2018;12(4):908-19.
21. Susheela AT, Vadakapet P, Pillai L, et al. Familial chylomicronemia syndrome: a case report. J Med Case Rep. 2021;5(1):5.
2. Pouwels ED, Blom DJ, Firth JC, et al. Severe Hypertriglyceridaemia as a result of Familial Chylomicronaemia. S Afr Med J. 2008;98(2):105-8.
3. Gotoda T, Shirai K, Ohta T, et al. Diagnosis and management of type I and type V hyperlipoproteinemia. J Atheroscler Thromb. 2012;19(1):1-12.
4. Nilsson SK, Heeren J, Olivecrona G, Merkel M. Apolipoprotein AV; a potent triglyceride reducer. Atherosclerosis. 2011;219(1):15-21.
5. Beigneux AP, Miyashita K, Ploug M, et al. Autoantibodies against GPIHBP1 as a cause of hypertriglyceridemia. New Eng J Med. 2017;376(17):1647-58.
6. Péterfy M. Lipase maturation factor 1: a lipase chaperone involved in lipid metabolism. Biochim Biophys Acta Mol Cell Biol Lipids. 2012;1821(5):790-4.
7. Brown WV, Goldberg IJ, Young SG. JCL Roundtable: Hypertriglyceridemia due to defects in lipoprotein lipase function. J Clin Lipidol. 2015;9(3):274-80.
8. Stefanutti C, Labbadia G, Morozzi C. Severe hypertriglyceridemia-related acute pancreatitis. Ther Apher Dial. 2013;17(2):130-7.
9. Murphy MJ, Sheng X, MacDonald TM, Wei L. Hypertriglyceridemia and acute pancreatitis. JAMA Intern Med. 2013;173(2):162-4.
10. Steinhagen-Thiessen E, Stroes E, Soran H, et al. The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency. Atherosclerosis. 2017;262:146-53.
11. Paragh G, Németh Á, Harangi M, et al. Causes, clinical findings and therapeutic options in chylomicronemia syndrome, a special form of hypertriglyceridemia. Lipids Health Dis. 2022;21(1):1-14.
12. Gaudet D, Méthot J, Déry S, et al. Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPLS447X) gene therapy for lipoprotein lipase deficiency: an open-label trial. Gene Ther. 2013;20(4):361-9.
13. Davidson M, Stevenson M, Hsieh A, et al. The burden of familial chylomicronemia syndrome: interim results from the IN-FOCUS study. Expert Rev Cardiovasc Ther. 2017;15(5):415-23.
14. Brunzell JD. Familial lipoprotein lipase deficiency, apo C-II deficiency, and hepatic lipase deficiency. The metabolic and molecular basis of inherited disease. 2001.
15. Pierce J, Patel T, Scott C. Eruptive Xanthomas. Mayo Clin Proc. 2021;96(12):3097-8.
16. Santos MA, Foulke G. Koebnerization and eruptive xanthomas. J Gen Intern Med. 2019;34(9):1947-8.
17. Viljoen A, Wierzbicki AS. Diagnosis and treatment of severe hypertriglyceridemia. Expert Rev Cardiovasc Ther. 2012;10(4):505-14.
18. Moulin P, Dufour R, Averna M, et al. Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): expert panel recommendations and proposal of an “FCS score”. Atherosclerosis. 2018;275:265-72.
19. Lee WY, Jung CH, Park JS, et al. Effects of smoking, alcohol, exercise, education, and family history on the metabolic syndrome as defined by the ATP III. Diabetes Res Clin Pract. 2005:67:70-7.
20. Williams L, Rhodes KS, Karmally W, Thampi S. Familial chylomicronemia syndrome: bringing to life dietary recommendations throughout the life span. J Clin Lipidol. 2018;12(4):908-19.
21. Susheela AT, Vadakapet P, Pillai L, et al. Familial chylomicronemia syndrome: a case report. J Med Case Rep. 2021;5(1):5.
2. Pouwels ED, Blom DJ, Firth JC, et al. Severe Hypertriglyceridaemia as a result of Familial Chylomicronaemia. S Afr Med J. 2008;98(2):105-8.
3. Gotoda T, Shirai K, Ohta T, et al. Diagnosis and management of type I and type V hyperlipoproteinemia. J Atheroscler Thromb. 2012;19(1):1-12.
4. Nilsson SK, Heeren J, Olivecrona G, Merkel M. Apolipoprotein AV; a potent triglyceride reducer. Atherosclerosis. 2011;219(1):15-21.
5. Beigneux AP, Miyashita K, Ploug M, et al. Autoantibodies against GPIHBP1 as a cause of hypertriglyceridemia. New Eng J Med. 2017;376(17):1647-58.
6. Péterfy M. Lipase maturation factor 1: a lipase chaperone involved in lipid metabolism. Biochim Biophys Acta Mol Cell Biol Lipids. 2012;1821(5):790-4.
7. Brown WV, Goldberg IJ, Young SG. JCL Roundtable: Hypertriglyceridemia due to defects in lipoprotein lipase function. J Clin Lipidol. 2015;9(3):274-80.
8. Stefanutti C, Labbadia G, Morozzi C. Severe hypertriglyceridemia-related acute pancreatitis. Ther Apher Dial. 2013;17(2):130-7.
9. Murphy MJ, Sheng X, MacDonald TM, Wei L. Hypertriglyceridemia and acute pancreatitis. JAMA Intern Med. 2013;173(2):162-4.
10. Steinhagen-Thiessen E, Stroes E, Soran H, et al. The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency. Atherosclerosis. 2017;262:146-53.
11. Paragh G, Németh Á, Harangi M, et al. Causes, clinical findings and therapeutic options in chylomicronemia syndrome, a special form of hypertriglyceridemia. Lipids Health Dis. 2022;21(1):1-14.
12. Gaudet D, Méthot J, Déry S, et al. Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPLS447X) gene therapy for lipoprotein lipase deficiency: an open-label trial. Gene Ther. 2013;20(4):361-9.
13. Davidson M, Stevenson M, Hsieh A, et al. The burden of familial chylomicronemia syndrome: interim results from the IN-FOCUS study. Expert Rev Cardiovasc Ther. 2017;15(5):415-23.
14. Brunzell JD. Familial lipoprotein lipase deficiency, apo C-II deficiency, and hepatic lipase deficiency. The metabolic and molecular basis of inherited disease. 2001.
15. Pierce J, Patel T, Scott C. Eruptive Xanthomas. Mayo Clin Proc. 2021;96(12):3097-8.
16. Santos MA, Foulke G. Koebnerization and eruptive xanthomas. J Gen Intern Med. 2019;34(9):1947-8.
17. Viljoen A, Wierzbicki AS. Diagnosis and treatment of severe hypertriglyceridemia. Expert Rev Cardiovasc Ther. 2012;10(4):505-14.
18. Moulin P, Dufour R, Averna M, et al. Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): expert panel recommendations and proposal of an “FCS score”. Atherosclerosis. 2018;275:265-72.
19. Lee WY, Jung CH, Park JS, et al. Effects of smoking, alcohol, exercise, education, and family history on the metabolic syndrome as defined by the ATP III. Diabetes Res Clin Pract. 2005:67:70-7.
20. Williams L, Rhodes KS, Karmally W, Thampi S. Familial chylomicronemia syndrome: bringing to life dietary recommendations throughout the life span. J Clin Lipidol. 2018;12(4):908-19.
21. Susheela AT, Vadakapet P, Pillai L, et al. Familial chylomicronemia syndrome: a case report. J Med Case Rep. 2021;5(1):5.
________________________________________________
2. Pouwels ED, Blom DJ, Firth JC, et al. Severe Hypertriglyceridaemia as a result of Familial Chylomicronaemia. S Afr Med J. 2008;98(2):105-8.
3. Gotoda T, Shirai K, Ohta T, et al. Diagnosis and management of type I and type V hyperlipoproteinemia. J Atheroscler Thromb. 2012;19(1):1-12.
4. Nilsson SK, Heeren J, Olivecrona G, Merkel M. Apolipoprotein AV; a potent triglyceride reducer. Atherosclerosis. 2011;219(1):15-21.
5. Beigneux AP, Miyashita K, Ploug M, et al. Autoantibodies against GPIHBP1 as a cause of hypertriglyceridemia. New Eng J Med. 2017;376(17):1647-58.
6. Péterfy M. Lipase maturation factor 1: a lipase chaperone involved in lipid metabolism. Biochim Biophys Acta Mol Cell Biol Lipids. 2012;1821(5):790-4.
7. Brown WV, Goldberg IJ, Young SG. JCL Roundtable: Hypertriglyceridemia due to defects in lipoprotein lipase function. J Clin Lipidol. 2015;9(3):274-80.
8. Stefanutti C, Labbadia G, Morozzi C. Severe hypertriglyceridemia-related acute pancreatitis. Ther Apher Dial. 2013;17(2):130-7.
9. Murphy MJ, Sheng X, MacDonald TM, Wei L. Hypertriglyceridemia and acute pancreatitis. JAMA Intern Med. 2013;173(2):162-4.
10. Steinhagen-Thiessen E, Stroes E, Soran H, et al. The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency. Atherosclerosis. 2017;262:146-53.
11. Paragh G, Németh Á, Harangi M, et al. Causes, clinical findings and therapeutic options in chylomicronemia syndrome, a special form of hypertriglyceridemia. Lipids Health Dis. 2022;21(1):1-14.
12. Gaudet D, Méthot J, Déry S, et al. Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPLS447X) gene therapy for lipoprotein lipase deficiency: an open-label trial. Gene Ther. 2013;20(4):361-9.
13. Davidson M, Stevenson M, Hsieh A, et al. The burden of familial chylomicronemia syndrome: interim results from the IN-FOCUS study. Expert Rev Cardiovasc Ther. 2017;15(5):415-23.
14. Brunzell JD. Familial lipoprotein lipase deficiency, apo C-II deficiency, and hepatic lipase deficiency. The metabolic and molecular basis of inherited disease. 2001.
15. Pierce J, Patel T, Scott C. Eruptive Xanthomas. Mayo Clin Proc. 2021;96(12):3097-8.
16. Santos MA, Foulke G. Koebnerization and eruptive xanthomas. J Gen Intern Med. 2019;34(9):1947-8.
17. Viljoen A, Wierzbicki AS. Diagnosis and treatment of severe hypertriglyceridemia. Expert Rev Cardiovasc Ther. 2012;10(4):505-14.
18. Moulin P, Dufour R, Averna M, et al. Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): expert panel recommendations and proposal of an “FCS score”. Atherosclerosis. 2018;275:265-72.
19. Lee WY, Jung CH, Park JS, et al. Effects of smoking, alcohol, exercise, education, and family history on the metabolic syndrome as defined by the ATP III. Diabetes Res Clin Pract. 2005:67:70-7.
20. Williams L, Rhodes KS, Karmally W, Thampi S. Familial chylomicronemia syndrome: bringing to life dietary recommendations throughout the life span. J Clin Lipidol. 2018;12(4):908-19.
21. Susheela AT, Vadakapet P, Pillai L, et al. Familial chylomicronemia syndrome: a case report. J Med Case Rep. 2021;5(1):5.
Авторы
И.И. Пшеничникова1, И.Н. Захарова*1, И.М. Османов2, И.И. Трунина2, В.В. Пупыкина1, И.Х.-Б. Арсельгова1, Ю.В. Коба1, Т.И. Бочарова2, А.Р. Абазова1
1 ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава России, Москва, Россия;
2 ГБУЗ «Детская городская клиническая больница им. З.А. Башляевой» Департамента здравоохранения г. Москвы, Москва, Россия
*zakharova-rmapo@yandex.ru
1 Russian Medical Academy of Continuous Professional Education, Moscow, Russia;
2 Bashlyaeva Children's City Clinical Hospital, Moscow, Russia
*zakharova-rmapo@yandex.ru
1 ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава России, Москва, Россия;
2 ГБУЗ «Детская городская клиническая больница им. З.А. Башляевой» Департамента здравоохранения г. Москвы, Москва, Россия
*zakharova-rmapo@yandex.ru
________________________________________________
1 Russian Medical Academy of Continuous Professional Education, Moscow, Russia;
2 Bashlyaeva Children's City Clinical Hospital, Moscow, Russia
*zakharova-rmapo@yandex.ru
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