Cascade Screening in Familial Hypercholesterolemia: Advancing Forward

被引：16

作者：

Santos, Raul D. ^{[1
]}

Frauches, Thiago S. ^{[2
]}

Chacra, Ana P. M. ^{[1
]}

机构：

[1] Univ Sao Paulo, Med Sch Hosp, Heart Inst InCor, Lipid Clin, Sao Paulo, Brazil

[2] Arthur de Siqueira Cavalcanti Hematol Inst HEMORI, Lab Immungenet, Rio De Janeiro, Brazil

来源：

JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS | 2015年 / 22卷 / 09期

关键词：

Familial Hypercholesterolemia; Cascade Screening; Genetic Cascade; Clinical Cascade; Cholesterol; DENSITY-LIPOPROTEIN-RECEPTOR; COST-EFFECTIVENESS ANALYSIS; ASSOCIATION EXPERT PANEL; ECONOMIC EVALUATIONS; CARDIOVASCULAR RISK; SEQUENCE VARIANTS; APOLIPOPROTEIN-B; LIFE-INSURANCE; GENETIC CAUSES; DIAGNOSIS;

D O I：

10.5551/jat.31237

中图分类号：

R6 [外科学];

学科分类号：

1002 ; 100210 ;

摘要：

Familial hypercholesterolemia is a genetic disorder associated with elevated LDL-cholesterol and high lifetime cardiovascular risk. Both clinical and molecular cascade screening programs have been implemented to increase early definition and treatment. In this systematic review, we discuss the main issues found in 65 different articles related to cascade screening and familial hypercholesterolemia, covering a range of topics including different types/strategies, considerations both positive and negative regarding cascade screening in general and associated with the different strategies, cost and coverage consideration, direct and indirect contact with patients, public policy around life insurance and doctor-patient confidentiality, the "right to know," and public health concerns regarding familial hypercholesterolemia.

引用

页码：869 / 880

页数：12

共 103 条

[1] A systematic review of economic evaluations of the detection and treatment of familial hypercholesterolemia [J].

Ademi, Zanfina ;

Watts, Gerald F. ;

Juniper, Amanda ;

Liew, Danny .

INTERNATIONAL JOURNAL OF CARDIOLOGY, 2013, 167 (06) :2391-2396

[2] Familial hypercholesterolemia:: ethical, practical and psychological problems from the perspective of patients [J].

Ågård, A ;

Bolmsjö, IÅ ;

Hermerén, G ;

Wahlström, J .

PATIENT EDUCATION AND COUNSELING, 2005, 57 (02) :162-167

[3]

Al-Rasadi Khalid, 2014, Oman Med J, V29, P85, DOI 10.5001/omj.2014.22

[4] Communicating Risk With Relatives in a Familial Hypercholesterolemia Cascade Screening Program A Summary of the Evidence [J].

Allison, Melanie .

JOURNAL OF CARDIOVASCULAR NURSING, 2015, 30 (04) :E1-E12

[5]

[Anonymous], HLTH TECHNOL ASSESS

[6]

[Anonymous], CAN J CARDIOL

[7] Tendon xanthomas in familial hypercholesterolemia are associated with a differential inflammatory response of macrophages to oxidized LDL [J].

Artieda, M ;

Cenarro, A ;

Junquera, C ;

Lasierra, P ;

Martínez-Lorenzo, MJ ;

Pocoví, M ;

Civeira, F .

FEBS LETTERS, 2005, 579 (20) :4503-4512

[8] Genetic causes of monogenic heterozygous familial hypercholesterolemia: A HuGE prevalence review [J].

Austin, MA ;

Hutter, CM ;

Zimmern, RL ;

Humphries, SE .

AMERICAN JOURNAL OF EPIDEMIOLOGY, 2004, 160 (05) :407-420

[9] Follow-Up of Children Diagnosed with Familial Hypercholesterolemia in a National Genetic Screening Program [J].

Avis, Hans J. ;

Kusters, D. Meeike ;

Vissers, Maud N. ;

Huijgen, Roeland ;

Janssen, Thomas H. ;

Wiegman, Albert ;

Kindt, Iris ;

Kastelein, John J. P. ;

Wijburg, Frits A. ;

Hutten, Barbara A. .

JOURNAL OF PEDIATRICS, 2012, 161 (01) :99-103

[10] Effectiveness of genetic cascade screening for familial hypercholesterolaemia using a centrally co-ordinated clinical service: An Australian experience [J].

Bell, Damon A. ;

Pang, Jing ;

Burrows, Sally ;

Bates, Timothy R. ;

van Bockxmeer, Frank M. ;

Hooper, Amanda J. ;

O'Leary, Peter ;

Burnett, John R. ;

Watts, Gerald F. .

ATHEROSCLEROSIS, 2015, 239 (01) :93-100

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