Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel

Raul D. Santos*, Samuel S. Gidding, Robert A. Hegele, Marina A. Cuchel, Philip J. Barter, Gerald F. Watts, Seth J. Baum, Alberico L. Catapano, M. John Chapman, Joep C. Defesche, Emanuela Folco, Tomas Freiberger, Jacques Genest, G. Kees Hovingh, Mariko Harada-Shiba, Steve E. Humphries, Ann S. Jackson, Pedro Mata, Patrick M. Moriarty, Frederick J. RaalKhalid Al-Rasadi, Kausik K. Ray, Zelijko Reiner, Eric J.G. Sijbrands, Shizuya Yamashita

*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلةReview articleمراجعة النظراء

317 اقتباسات (Scopus)

ملخص

Familial hypercholesterolaemia is common in individuals who had a myocardial infarction at a young age. As many as one in 200 people could have heterozygous familial hypercholesterolaemia, and up to one in 300 000 individuals could be homozygous. The phenotypes of heterozygous and homozygous familial hypercholesterolaemia overlap considerably; the response to treatment is also heterogeneous. In this Review, we aim to define a phenotype for severe familial hypercholesterolaemia and identify people at highest risk for cardiovascular disease, based on the concentration of LDL cholesterol in blood and individuals' responsiveness to conventional lipid-lowering treatment. We assess the importance of molecular characterisation and define the role of other cardiovascular risk factors and advanced subclinical coronary atherosclerosis in risk stratification. Individuals with severe familial hypercholesterolaemia might benefit in particular from early and more aggressive cholesterol-lowering treatment (eg, with PCSK9 inhibitors). In addition to better tailored therapy, more precise characterisation of individuals with severe familial hypercholesterolaemia could improve resource use.

اللغة الأصليةEnglish
الصفحات (من إلى)850-861
عدد الصفحات12
دوريةThe Lancet Diabetes and Endocrinology
مستوى الصوت4
رقم الإصدار10
المعرِّفات الرقمية للأشياء
حالة النشرPublished - أكتوبر 1 2016

ASJC Scopus subject areas

  • ???subjectarea.asjc.2700.2724???
  • ???subjectarea.asjc.2700.2712???
  • ???subjectarea.asjc.1300.1310???

بصمة

أدرس بدقة موضوعات البحث “Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel'. فهما يشكلان معًا بصمة فريدة.

قم بذكر هذا