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
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.
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页码:869 / 880
页数:12
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