Распространенность семейной гиперлипидемии у больных с ранним развитием острого коронарного синдрома
Острый коронарный синдром
Дата публикации: марта 14, 2018
Ключевые слова
семейная гиперлипидемия
острый коронарный синдром
наследственность
острый коронарный синдром
наследственность
Аннотация
Семейная гиперлипидемия (СГ) – это аутосомно-доминантное генетическое заболевание с частотой встречаемости в общей популяции от 1:200 до 1:500. Целью настоящего исследования являлась оценка встречаемости СГ у больных острым коронарным синдромом (ОКС), развившимся в молодом возрасте. Данное исследование - часть многоцентрового клинического наблюдательного проекта ОРАКУЛ II. Из 1754 отобрано 322 больных, среди них индексный эпизод обострения ИБС у мужчин развился в возрасте ≤55 лет, у женщин – ≤60 лет. Частота определенной/ возможной СГ по критериям голландских липидных клиник составила 1,9% и по критериям Simone Broome Register доля больных с вероятной СГ составила 6,5%. Это количество почти в 4 раза выше, чем в общей популяции, при использовании тех же диагностических шкал. У больных с клиническими признаками СГ чаще наблюдается более тяжелое течение ОКС. Таким образом, наши данные свидетельствуют в пользу целесообразности включения мероприятий по выявлению СГ в практику ведения больных ОКС. По-видимому, в Российской Федерации следует разработать свои критерии СГ, учитывающие возможности получения соответствующей клинической информации.Литература
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14. Dorsch M.F., Lawrance R.A., Durham N.P., Hall A.S. Familial hypercholesterolaemia is underdiagnosed after AMI. Brit. Med. J. 2001; 322 (7278): 111.
15. Genest J.J., Jr., Martin-Munley S.S., McNamara J.R. et al. Familial lipoprotein disorders in patients with premature coronary artery disease. Circulat ion. 1992; 85 (6): 2025-2033.
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18. Williams R.R., Hopkins P.N., Hunt S.C. et al. Population-based frequency of dyslipidemia syndromes in coronary-prone families in Utah. Arch. Intern. Med. 1990; 150 (3): 582-528.
19. Do R., Stitziel N .O., Won H.-H. et al. Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature. 2015; 518 (7537): 102-106.
20. Sjouke B., Kusters D. M., K indt I. et al. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome. Eur. Heart J. 2015; 36 (9): 560-565.
21. Nanchen D., Gencer B., Muller O. et al. Prognosis of Patients With Familial Hypercholesterolemia After Acute Coronary Syndromes. Circulation. 2016; 134 (10): 698-709.
22. Usifo E., Leigh S.E.A., Whittall R.A. et al. Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment. Ann. Hum. Genet. 2012; 76 (5): 387-401.
23. Bertolini S., Pisciotta L., Rabacchi C. et al. Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. Atherosclerosis. 2013; 227 (2): 342-348.
24. Bennet A.M., Di Angelantonio E., Ye Z. et al. Association of apolipoprotein E genotypes with lipid levels and coronary risk. J.A.M.A. 2007; 298 (11): 1300-1311.
25. Hani E.H., Suaud L., Boutin P. et al. A missense mutation in hepatocyte nuclear factor-4 alpha, resulting in a reduced transactivation activity, in human late-onset noninsulin dependent diabetes mellitus. J. Clin. Invest. 1998; 101 (3): 521-526.
2. Benn M., Watts G.F., Tybjaerg-Hansen A., Nordestgaard B.G. Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication. J. Clin. Endocrinol. Metab. 2012; 97 (11): 3956-3964.
3. Nordestgaard B.G., Chapman M.J., Humphries S.E. et al. 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. Eur. Heart J. 2013; 34 (45): 3478-90a.
4. Hovingh G.K., Davidson M.H., Kastelein J.J. P., O’Connor A.M. Diagnosis and treatment of familial hypercholesterolaemia. Eur. Heart J. 2013; 34 (13): 962-971.
5. Marks D., Thorogood M., Neil H. A. W., Humphries S. E. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis. 168 (1): 1-14.
6. Reiner Z., Catapano A.L., De Backer G. et al. 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 (14): 1769-1818.
7. Watts G.F., Gidding S., Wierzbicki A.S. et al. Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. Eur. J. Prev. Cardiol. 2015; 22 (7): 849-854. 8. Wierzbicki A.S., Humphries S.E., Minhas R. Familial hypercholesterolaemia: summary of NICE guidance. Brit. Med. J. 2008; 337.
9. Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. Brit. Med. J. 1991; 303 (6807): 893-896.
10. Foody J.M. Familial hypercholesterolemia: an underrecognized but significant concern in cardiology practice. Clin. Cardiol. 2014; 37 (2): 119-125.
11. Versmissen J., Oosterveer D.M., Yazdanpanah M. et al. Efficacy of statins in familial hypercholesterolaemia: a long term cohort study. Brit. Med. J. 2008; 337.
12. Pijlman A.H., Huijgen R., Verhagen S.N. et al. Evaluation of cholesterol lowering treatment of patients with familial hypercholesterolemia: a large cross-sectional study in The Netherlands. Atherosclerosis. 2010; 209 (1): 189-194.
13. Robinson J.G., Goldberg A.C. Treatment of adults with familial hypercholesterolemia and evidence for treatment: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.J. Clin. Lipidol. 2011; 5 (3): S18-29.
14. Dorsch M.F., Lawrance R.A., Durham N.P., Hall A.S. Familial hypercholesterolaemia is underdiagnosed after AMI. Brit. Med. J. 2001; 322 (7278): 111.
15. Genest J.J., Jr., Martin-Munley S.S., McNamara J.R. et al. Familial lipoprotein disorders in patients with premature coronary artery disease. Circulat ion. 1992; 85 (6): 2025-2033.
16. Nanchen D., Gencer B., Auer R. et al. Prevalence and management of familial hypercholesterolaemia in patients with acute coronary syndromes. Eur. Heart J. 2015; 36 (36): 24382445. 17. Gaudet D., Vohl M.-C., Julien P. et al. Relative contribution of low-density lipoprotein receptor and lipoprotein lipase gene mutations to angiographically assessed coronary artery disease among French Canadians. Amer. J. Cardiol. 82 (3): 299-305.
18. Williams R.R., Hopkins P.N., Hunt S.C. et al. Population-based frequency of dyslipidemia syndromes in coronary-prone families in Utah. Arch. Intern. Med. 1990; 150 (3): 582-528.
19. Do R., Stitziel N .O., Won H.-H. et al. Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature. 2015; 518 (7537): 102-106.
20. Sjouke B., Kusters D. M., K indt I. et al. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome. Eur. Heart J. 2015; 36 (9): 560-565.
21. Nanchen D., Gencer B., Muller O. et al. Prognosis of Patients With Familial Hypercholesterolemia After Acute Coronary Syndromes. Circulation. 2016; 134 (10): 698-709.
22. Usifo E., Leigh S.E.A., Whittall R.A. et al. Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment. Ann. Hum. Genet. 2012; 76 (5): 387-401.
23. Bertolini S., Pisciotta L., Rabacchi C. et al. Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. Atherosclerosis. 2013; 227 (2): 342-348.
24. Bennet A.M., Di Angelantonio E., Ye Z. et al. Association of apolipoprotein E genotypes with lipid levels and coronary risk. J.A.M.A. 2007; 298 (11): 1300-1311.
25. Hani E.H., Suaud L., Boutin P. et al. A missense mutation in hepatocyte nuclear factor-4 alpha, resulting in a reduced transactivation activity, in human late-onset noninsulin dependent diabetes mellitus. J. Clin. Invest. 1998; 101 (3): 521-526.