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Table 1 Characteristics and literature quality evaluation of FH screening studies included in the review

From: Synthesized economic evidence on the cost-effectiveness of screening familial hypercholesterolemia

Country, References

Strategy type

Strategy number

Screening population

Definition of FH

Treatment

Economic evaluation method

Model

Time horizon

Cost unit

Discount rate

Perspective

QHES score

CHEERS 2022

UK,Kerr [24]

CS

2

FH patients and their relatives

Genetic testing

Statins,Ezetimibe

CEACUA

Markov

Lifetime

2014–15 UK pounds

3.5%

UK NHS perspective

87

22.5

UK, Crosland [25]

CS

9

Patients aged 40–70 years with FH and relatives

Genetic testing

Statins

CUA

Decision tree + Markov model

Lifetime

2015–16 UKpounds

3.5%

UK NHS perspective

91

22

UK, McKay [26]

US + RCT

8

Children 1–2 years old

Genetic testing; LDL-C testing;

Statins

CUA

Decision tree + Markov model

Lifetime

2017 UK pounds

3.5%

UK NHS perspective

86

21

UK,Marks [27]

US;CS;OS;

5

General population; Counseling patients; Inpatients with premature MI; FH patients and their relatives; People aged 16–54;

Genetic testing;LDL-C testing;

Statins

CEA

Decision tree + life-table analysis

Lifetime

pounds

costs:6% benefits:1%

UK NHS perspective

82

20

UK,Marks [28]

US;CS;

2

16-year-olds; Patients aged 16–54 years and their relatives

Genetic testing;LDL-C testing;

Statins

CEA

Decision tree + life-table analysis

10 years

pounds

Not Reported

UK NHS perspective

80

19

UK,Nherera [29]

CS

4

FH patients (50 years old) and relatives (30 years old)

LDL-C testing

Statins

CUA

Decision tree + Markov model

Lifetime

2010–11 UKpounds

3.5%

UK NHS perspective

89

22

Australia, Ademi [40]

CS

2

Ten years olds suspected of having FH

Genetic testing;LDL-C testing;

Statins

CEACUA

Markov

Lifetime

2019 Australian dollars

5%

Australian healthcare system perspective

91

23.5

Australia, Ademi [42]

CS

2

FH patients and their relatives

Genetic testing;LDL-C testing;

Statins

CEACUA

Decision tree + Markov

10 years

2013Australian dollars

5%

Australian health care perspective

88

20.5

Australia, Marquina [30]

US

2

Population 18–40 years in Australia

Genetic testing

Statins;Ezetimibe

CEACUA

Decision tree + Markov

Lifetime

2020Australian dollars

5%

Australian healthcare andsocietal perspective

93

24.5

U.S.Chen [37]

CS

3

Caucasian male adults

Genetic testing;LDL-C testing;

Statins

CUA

Decision tree + Markov

Lifetime

2013U.S. dollars

3%

U.S. societal perspective

88

21

U.S.Spencer [19]

US

2

Population-wide (20 and 35 years old)

Genetic testing

Statins

CEACUA

Decision tree + Markov

Lifetime

2021 U.S.dollars

3%

U.S. healthcare sector perspective

90

22.5

U.S.Jackson [33]

CS

2

FH + progenitor population, and the children of the progenitor population, and subsequent off-spring

Genetic testing

Statins,Ezetimibe, PCSK9

CEA

Simulated family trees;

30 years

2018U.S. dollars

3%

U.S. health care provider’sperspective

81

21.5

Argentina,Araujo [39]

US

2

Living in Argentina aged 6 years children

LDL-C testing

Statins

CEACUA

Decision tree

60 years

U.S.dollars

5%

Argentine public healthcare system perspective

84

21

Poland,Pelczarska [41]

US + CS;OS + CS;

7

People who got their first job; 6 years old children; 49/75 years of age after the first ACS/stroke;

Genetic testing;LDL-C testing;

Statins

CEACUA

Decision tree + Markov

Lifetime

zloty and euros

Costs:5% benefits:3.5%

Poland public payer perspective

89

21

Spanish,Lázaro [31]

CS

2

FH patients and their relatives

Genetic testing

Statins;Ezetimibe

CEACUA

Decision tree

10 years

2016 euros

3%

Spanish health system and social perspective

88

21

Spanish, Oliva [34]

CS

2

Under 60 years old FHand relatives

Genetic testing

Statins

CEA

Life-table analysis

Lifetime

2005euros

3%

Spanish health system perspective

89

21.5

Netherlands, Wonderling [35]

CS

2

FH patients and their relatives

Genetic testing

Statins

CEA

Life-table analysis

Lifetime

2001 U.S. dollars

4%

Netherlands health care perspective

85

20

Netherlands, Marang-van [36]

CS

10

FH patients over 16 years of age and their relatives

Genetic testing;LDL-C testing;

Statins

CEA

Life-tableanalysis

Lifetime

2002euros

Withoutdiscounting

Netherlands health care perspective

82

20.5

Netherlands, Ademi [32]

CS

2

10-year-olds FH

Genetic testing

Statins

CEACUA

Markov

Lifetime

2020euros

Costs:4%benefits:1.5%

Netherlands health care and societal perspectives

89

21.5

  1. FH: Familial hypercholesterolemia; CS: Cascade screening; US: Universal screening; OS: Opportunistic screening; RCT: Reverse cascade testing; ACS: Acute coronary syndrome; MI: Myocardial infarction; CEA: Cost effectiveness analysis; CUA: Cost-utility analysis; LDL-C: Low-density lipoprotein cholesterol;