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

Qureshi, Nadeem; Silva, Maria Luisa R Da; Abdul-Hamid, Hasidah; Weng, Stephen; Kai, Joe; Leonardi‐Bee, Jo

doi:10.1002/14651858.cd012985.pub2

Cited by 4 publications

(3 citation statements)

References 75 publications

(34 reference statements)

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“…A fundamental element of all FH models of care is early detection and initiation of treatment to avoid the lifelong burden of elevated LDL-cholesterol, and engaging with GPs will support this process 8. Usual shared care models typically involve GPs initiating collaboration with lipid specialists by referring individuals with suspected FH for diagnosis and treatment 32 33. In contrast, our primary-tertiary shared care approach represents a departure from usual care whereby the GP is actively approached and supported as an integral component of the model.…”

Section: Discussionmentioning

confidence: 99%

Implementation of a primary-tertiary shared care model to improve the detection of familial hypercholesterolaemia (FH): a mixed methods pre-post implementation study protocol

Birkenhead,

Sullivan,

Trumble

et al. 2024

BMJ Open

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IntroductionFamilial hypercholesterolaemia (FH) is an autosomal dominant inherited disorder of lipid metabolism and a preventable cause of premature cardiovascular disease. Current detection rates for this highly treatable condition are low. Early detection and management of FH can significantly reduce cardiac morbidity and mortality. This study aims to implement a primary-tertiary shared care model to improve detection rates for FH. The primary objective is to evaluate the implementation of a shared care model and support package for genetic testing of FH. This protocol describes the design and methods used to evaluate the implementation of the shared care model and support package to improve the detection of FH.Methods and analysisThis mixed methods pre-post implementation study design will be used to evaluate increased detection rates for FH in the tertiary and primary care setting. The primary-tertiary shared care model will be implemented at NSW Health Pathology and Sydney Local Health District in NSW, Australia, over a 12-month period. Implementation of the shared care model will be evaluated using a modification of the implementation outcome taxonomy and will focus on the acceptability, evidence of delivery, appropriateness, feasibility, fidelity, implementation cost and timely initiation of the intervention. Quantitative pre-post and qualitative semistructured interview data will be collected. It is anticipated that data relating to at least 62 index patients will be collected over this period and a similar number obtained for the historical group for the quantitative data. We anticipate conducting approximately 20 interviews for the qualitative data.Ethics and disseminationEthical approval has been granted by the ethics review committee (Royal Prince Alfred Hospital Zone) of the Sydney Local Health District (Protocol ID: X23-0239). Findings will be disseminated through peer-reviewed publications, conference presentations and an end-of-study research report to stakeholders.

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Section: Discussionmentioning

confidence: 99%

Implementation of a primary-tertiary shared care model to improve the detection of familial hypercholesterolaemia (FH): a mixed methods pre-post implementation study protocol

Birkenhead,

Sullivan,

Trumble

et al. 2024

BMJ Open

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“…There have been two previous systematic reviews that focused on this topic. In the first review, the authors assessed 30 studies for eligibility and none were included 32 . In the second review, the authors assessed 29 studies for eligibility and included three into their review 33 .…”

Section: Comparison With Existing Literaturementioning

confidence: 99%

A Scoping Review of Approaches for the Detection and Management of Familial Hypercholesterolaemia in Primary Care

Khan

McCombe

McErlean

et al. 2023

Preprint

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Background: Familial Hypercholesterolaemia (FH) is a genetic condition characterised by a lifelong elevation of low-density lipoprotein cholesterol (LDL-c). FH is one of the most common genetic diseases, with an estimated global prevalence of 1 in 250 individuals. However, it is both underdiagnosed and undertreated. Primary care can be a valuable asset for the opportunistic detection and management of FH. Aim: To examine the employed strategies for improving the detection and management of FH in a primary care setting. Method: Six electronic databases (PubMed, The Cochrane Central Register of Controlled Trials, Web of Science, CINAHL, ProQuest, and Scopus) were searched from May - June 2022 for papers published in English following Arksey and O Malleys six-stage scoping review process. Results: The initial search identified 1401 articles and a total of 30 studies were included in this review. A diverse range of methods have been studied for improving identification of FH. Three studies examined reduction in patient LDL-c levels from management in primary care. Two thirds of the studies with primary care management had a significant reduction in patient LDL-c levels. Conclusion: The lack of consistency across the diagnostic criteria and the low number of studies addressing the reduction of patient LDL-c levels are major features of this review. Further research should be conducted to evaluate the effectiveness of the approaches for improving the detection and management of adult patients with FH in a primary care setting.

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“…[9][10][11][12][13][14][15] Currently, there is insufficient evidence on the best strategy to identify potential FH patients in population-based screening. 16,17 The European Society of Cardiology (ESC) guidelines on dyslipidaemia recommend the use of the DLCN criteria, a clinical scoring mechanism based on LDL-C levels, physical examination and patient-, and family history. 18 These criteria result in a cumulative score for an individual patient.…”

Section: Lead Author Biographymentioning

confidence: 99%

Electronic health record-based facilitation of familial hypercholesterolaemia detection sensitivity of different algorithms in genetically confirmed patients

Mohammadnia

Akyea

Qureshi

et al. 2022

European Heart Journal - Digital Health

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Familial hypercholesterolaemia (FH) is a disorder of LDL-cholesterol clearance, resulting in increased risk of cardiovascular disease. Recently, we developed a Dutch Lipid Clinic Network (DLCN) criteria-based algorithm to facilitate FH detection in electronic health records (EHR). In this study, we investigated the sensitivity of this and other algorithms in a genetically confirmed FH population. All patients with a healthcare insurance-related coded diagnosis of ‘primary dyslipidaemia’ between 2018-2020 were assessed for genetically confirmed FH. Data were extracted at the time of genetic confirmation of FH (T1) and during the first visit in 2018-2020 (T2). We assessed the sensitivity of algorithms on T1 and T2 for DLCN ≥ 6 and compared to other algorithms (FAMCAT, MEDPED, and Simon Broome [SB]) using EHR-coded data and using all available data (i.e., including non-coded free text). 208 patients with genetically confirmed FH were included. The sensitivity (95% CI) on T1 and T2 with EHR-coded data for DLCN ≥ 6 was 19% (14-25%) and 22% (17-28%), respectively. When using all available data, the sensitivity for DLCN ≥ 6 was 26% (20-32%) on T1 and 28% (22-34%) on T2. For FAMCAT, the sensitivity with EHR-coded data on T1 was 74% (67-79%) and 32% (26-39%) on T2, whilst sensitivity with all available data was 81% on T1 (75-86%) and 45% (39-52%) on T2. For MEDPED and SB, using all available data, the sensitivity on T1 was 31% (25-37%) and 17% (13-23%), respectively. The FAMCAT algorithm had significantly better sensitivity than DLCN, MEDPED, and SB. FAMCAT has the best potential for FH case-finding using EHRs.

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

Abstract: Strategies for screening for familial hypercholesterolaemia in primary care and other community settings (Review)

Cited by 4 publications

References 75 publications

Implementation of a primary-tertiary shared care model to improve the detection of familial hypercholesterolaemia (FH): a mixed methods pre-post implementation study protocol

Implementation of a primary-tertiary shared care model to improve the detection of familial hypercholesterolaemia (FH): a mixed methods pre-post implementation study protocol

A Scoping Review of Approaches for the Detection and Management of Familial Hypercholesterolaemia in Primary Care

Electronic health record-based facilitation of familial hypercholesterolaemia detection sensitivity of different algorithms in genetically confirmed patients

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