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.
引用
收藏
页码:869 / 880
页数:12
相关论文
共 50 条
  • [1] Cascade genetic screening for familial hypercholesterolemia
    Leren, TP
    [J]. CLINICAL GENETICS, 2004, 66 (06) : 483 - 487
  • [2] Underutilization of cascade screening for familial hypercholesterolemia
    Neal, William A.
    Knowles, Josh
    Wilemon, Katherine
    [J]. CLINICAL LIPIDOLOGY, 2014, 9 (03) : 291 - 293
  • [3] Cascade screening program for familial hypercholesterolemia
    Rubio-Marin, Patricia
    Michan-Dona, Alfredo
    Maraver-Delgado, Juan
    Arroyo-Olivares, Raquel
    Barrado Varea, Rosalia
    Perez de Isla, Leopoldo
    Mata, Pedro
    [J]. ENDOCRINOLOGIA DIABETES Y NUTRICION, 2018, 65 (05): : 280 - 286
  • [4] Reverse Cascade Screening for Familial Hypercholesterolemia
    Vinson, Amelia
    Guerra, Lisa
    Hamilton, Luke
    Wilson, Don P.
    [J]. JOURNAL OF PEDIATRIC NURSING-NURSING CARE OF CHILDREN & FAMILIES, 2019, 44 : 50 - 55
  • [5] REVERSE CASCADE SCREENING IN THE DIAGNOSIS OF FAMILIAL HYPERCHOLESTEROLEMIA
    Galimova, L. F.
    Sadykova, D. I.
    Slastnikova, E. S.
    Khaliullina, C. D.
    Salakhova, K. R.
    [J]. ATHEROSCLEROSIS, 2022, 355 : E224 - E225
  • [6] Cascade screening for familial hypercholesterolemia: Practical consequences
    Louter, Leonora
    Defesche, Joep
    van Lennep, Jeanine Roeters
    [J]. ATHEROSCLEROSIS SUPPLEMENTS, 2017, 30 : 77 - 85
  • [7] Cascade screening of familial hypercholesterolemia must go on
    Galema-Boers, J. M. H.
    Versmissen, J.
    van Lennep, H. W. O. Roeters
    Dusault-Wijkstra, J. E.
    Williams, M.
    van Lennep, J. E. Roeters
    [J]. ATHEROSCLEROSIS, 2015, 242 (02) : 415 - 417
  • [8] ADULT CASCADE SCREENING VERSUS CHILD REVERSE CASCADE SCREENING IN FAMILIAL HYPERCHOLESTEROLEMIA
    Miranda, B.
    Medeiros, A.
    Alves, A. C.
    Bourbon, M.
    [J]. ATHEROSCLEROSIS, 2023, 379
  • [9] CASCADE GENETIC SCREENING FOR FAMILIAL HYPERCHOLESTEROLEMIA IN WEST SIBERIA
    Shakhtshneider, E.
    Makarenkova, K.
    Ivanoshchuk, D.
    Orlov, P.
    Ragino, Y.
    Voevoda, M.
    [J]. ATHEROSCLEROSIS, 2016, 252 : E29 - E29
  • [10] Familial Hypercholesterolemia: Cascade Screening in Children and Relatives of the Affected
    Setia, Nitika
    Saxena, Renu
    Sawhney, J. P. S.
    Verma, Ishwar C.
    [J]. INDIAN JOURNAL OF PEDIATRICS, 2018, 85 (05): : 339 - 343