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. 2021 Oct 7;10(10):CD012985.
doi: 10.1002/14651858.CD012985.pub2.

Strategies for screening for familial hypercholesterolaemia in primary care and other community settings

Nadeem Qureshi  1 , Maria Luisa R Da Silva  1 , Hasidah Abdul-Hamid  1   2 , Stephen F Weng  3 , Joe Kai  1 , Jo Leonardi-Bee  4
Affiliations

Strategies for screening for familial hypercholesterolaemia in primary care and other community settings

Nadeem Qureshi et al. Cochrane Database Syst Rev. .

Abstract

Background: Familial hypercholesterolaemia is a common inherited condition that is associated with premature cardiovascular disease. The increased cardiovascular morbidity and mortality, resulting from high levels of cholesterol since birth, can be prevented by starting lipid-lowering therapy. However, the majority of patients in the UK and worldwide remain undiagnosed. Established diagnostic criteria in current clinical practice are the Simon-Broome and Dutch Lipid Clinical network criteria and patients are classified as having probable, possible or definite familial hypercholesterolaemia.

Objectives: To assess the effectiveness of healthcare interventions strategies to systematically improve identification of familial hypercholesterolaemia in primary care and other community settings compared to usual care (incidental approaches to identify familial hypercholesterolaemia in primary care and other community settings).

Search methods: We searched the Cochrane Inborn Errors of Metabolism Trials Register. Date of last search: 13 September 2021. We also searched databases (Cochrane Central Register of Controlled Trials (CENTRAL), Ovid MEDLINE, PubMed, Embase, CINAHL, Web of Science, and SCOPUS) as well as handsearching relevant conference proceedings, reference lists of included articles, and the grey literature. Date of last searches: 05 March 2020. SELECTION CRITERIA: As per the Effective Practice and Organisation of Care (EPOC) Group guidelines, we planned to include randomised controlled trials (RCTs), cluster-RCTs and non-randomised studies of interventions (NRSI). Eligible NRSI were non-randomised controlled trials, prospective cohort studies, controlled before-and-after studies, and interrupted-time-series studies. We planned to selected studies with healthcare interventions strategies that aimed to systematically identify people with possible or definite clinical familial hypercholesterolaemia, in primary care and other community settings. These strategies would be compared with usual care or no intervention. We considered participants of any age from the general population who access primary care and other community settings.

Data collection and analysis: Two authors planned to independently select studies according to the inclusion criteria, to extract data and assess for risk of bias and the certainty of the evidence (according to the GRADE criteria). We contacted corresponding study authors in order to obtain further information for all the studies considered in the review.

Main results: No eligible RCTs or NRSIs were identified for inclusion, however, we excluded 28 studies.

Authors' conclusions: Currently, there are no RCTs or controlled NRSI evidence to determine the most appropriate healthcare strategy to systematically identify possible or definite clinical familial hypercholesterolaemia in primary care or other community settings. Uncontrolled before-and-after studies were identified, but were not eligible for inclusion. Further studies assessing healthcare strategies of systematic identification of familial hypercholesterolaemia need to be conducted with diagnosis confirmed by genetic testing or validated through clinical phenotype (or both).

Trial registration: ClinicalTrials.gov NCT03253432 NCT03398954 NCT03520140.

PubMed Disclaimer

Conflict of interest statement

Nadeem Qureshi: chief investigator on UK National Institute of Health research projects on identifying familial hypercholesterolaemia and plans to pursue further research in this area. Also chief investigator on UK National Institute of Health research projects on familial breast hypercholesterolaemia.

Maria Luisa R Da Silva: none known.

Hasidah Abdul‐Hamid: none known.

Stephen Weng: member of the Clinical Practice Research Datalink Independent Scientific Advisory Committee at the UK Medicines and Health Regulatory Agency. Holds independent research grant funding from AMGEN and is academic advisor to Quealth.

Joe Kai: none known.

Jo Leonardi‐Bee: receives funding from the MRC and Health Technology Assessment in relation to other grants within the topic of familial hypercholesterolaemia.

Figures

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Figure 1. Study flow diagram.
See this image and copyright information in PMC

Update of

References

References to studies excluded from this review

Amor‐Salamanca 2017 {published data only}
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Bell 2012 {published data only}
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Bell 2013 {published data only}
    1. Bell DA, Bender R, Hooper AJ, McMahon J, Edwards G, Bockxmeer FM, et al. Impact of interpretative commenting on lipid profiles in people at high risk of familial hypercholesterolaemia. Clinical Chimica Acta 2013;422:21-5. - PubMed
Bell 2014a {published data only}
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Bell 2014b {published data only}
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Bell 2015 {published data only}
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Bender 2016 {published data only}
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Jayne 2016 {published data only}
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Kirke 2015 {published data only}
    1. Kirke AB, Barbour RA, Burrows S, Bell DA, Vickery AW, Emery J, et al. Systematic detection of familial hypercholesterolaemia in primary health care: a community based prospective study of three methods. Heart, Lung and Circulation 2015;24(3):250-6. - PubMed
Nanchen 2015 {published data only}
    1. Nanchen D, Gencer B, Auer R, Raber L, Stefanini GG, Klingenberg R, et al. Prevalence and management of familial hypercholesterolaemia in patients with acute coronary syndromes. European Heart Journal 2015;36(36):2438-45. - PubMed
NCT03253432 {published data only}
    1. NCT03253432. IN-TANDEM familial hypercholesterolemia pilot study [INTegrating active case-finding with next-generation sequencing for diagnosis through electronic medical records (IN-TANDEM): familial hypercholesterolemia pilot study]. clinicaltrials.gov/ct2/show/NCT03253432 (first posted 17 August 2017).
NCT03398954 {published data only}
    1. NCT03398954. A prospective pilot study of screening out rate and clinical management of familial hypercholesterolemia [Screening out rate and clinical management of familial hypercholesterolemia： a prospective pilot study in China outpatient department]. clinicaltrials.gov/ct2/show/NCT03398954 (first posted 16 January 2018).
NCT03520140 {published data only}
    1. NCT03520140. Prevalence of familial hypercholesterolaemia (FH) in Italian patients with coronary artery disease (POSTER) [Prevalence of familial hypercholesterolaemia (FH) in Italian patients with coronary artery disease]. clinicaltrials.gov/ct2/show/NCT03520140 (first posted 09 May 2018). - PubMed
Qureshi 2016 {published data only}
    1. Qureshi N, Weng S, Tranter J, El-Kadiki A, Kai J. Feasibility of improving identification of familial hypercholesterolaemia in general practice: intervention development study. BMJ Open 2016;6:e011734. - PMC - PubMed
Safarova 2016 {published data only}
    1. Safarova MS, Liu H, Kullo IJ. Rapid identification of familial hypercholesterolaemia from electronic health records: the SEARCH study. Journal of Clinical Lipidology 2016;10:1230-9. - PMC - PubMed
Shipman 2014 {published data only}
    1. Shipman KE, Ganeshamoorthy S, Labib M. Audit of the diagnosis of familial hypercholesterolaemia in primary care. Atherpsclerosis 2014;236:e306.
Steyn 1998 {published data only}
    1. Steyn K, Fourie JM, Shepherd J. Detection and measurement of hypercholesterolaemia in South Africans attending general practitioners in private practice - the cholesterol monitor. South African Medical Journal 1998;88(12):1569-74. - PubMed
Troeung 2016 {published data only}
    1. Troeung L, Arnold-Reed D, Ping-Delfos WC, Watts GF, Pang J, Lugonja M, et al. A new electronic screening tool for identifying risk of familial hypercholesterolaemia in general practice. Heart 2016;102(11):855-61. - PubMed
Vickery 2017 {published data only}
    1. Ryan J, Pang J, Watts GF, Vickery A. Using general practice electronic databases to increase the identification of familial hypercholesterolaemia in primary care. Atherosclerosis 2017;263:e61.
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Weng 2018 {published data only}
    1. Weng S, Kai J, Tranter J, Leonardi-Bee J, Qureshi N. Improving identification and management of familial hypercholesterolaemia in primary care: pre- and post-intervention study. Atherosclerosis 2018;274:54-60. - PubMed
Zamora 2017 {published data only}
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References to ongoing studies

Arnold‐Reed 2017 {published data only}
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