Identifying patients with familial hypercholesterolaemia in primary care: an informatics-based approach in one primary care centre

a b s t r a c tBackground and aims: Familial hypercholesterolaemia (FH) is a major cause of premature heart disease but remains unrecognised in most patients. This study investigated if a systematic primary care-based approach to identify and manage possible FH improves recommended best clinical practice. Methods: Pre-and post-intervention study in six UK general practices (population 45,033), which invited patients with total cholesterol >7.5 mmol/L to be assessed for possible FH. Compliance with national guideline recommendations to identify and manage possible FH (repeat cholesterol; assess family history of heart disease; identify secondary causes and clinical features; reduce total & LDL-cholesterol; statin prescribing; lifestyle advice) was assessed by calculating the absolute difference in measures of care preand six months post-intervention. Results: The intervention improved best clinical practice in 118 patients consenting to assessment (of 831 eligible patients): repeat cholesterol test (þ75.4%, 95% CI 66.9e82.3); family history of heart disease assessed (þ35.6%, 95% CI 27.0e44.2); diagnosis of secondary causes (þ7.7%, 95% CI 4.1e13.9), examining clinical features (þ6.0%, 95% CI 2.9e11.7). For 32 patients diagnosed with possible FH using SimonBroome criteria, statin prescription significantly improved (18.8%, 95% CI 8.9e35.3), with nonsignificant mean reductions in cholesterol post-intervention (total: À0.16 mmol/L, 95% CI -0.78-0.46; LDL: À0.12 mmol/L, 95% CI -0.81-0.57). Conclusions: Within six months, this simple primary care intervention improved both identification and management of patients with possible FH, in line with national evidence-based guidelines. Replicating and sustaining this approach across the country could lead to substantial improvement in health outcomes for these individuals with very high cardiovascular risk.

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“…This process is consistent with previous studies on FH identification using both EHRs and manual review [20,22].…”

Section: Strengthssupporting

confidence: 91%

Improving identification and management of familial hypercholesterolaemia in primary care: Pre- and post-intervention study

et al. 2018

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“…130,131 These approaches can include computer-based searches for potential cases. 132 When feasible, all patients with suspected FH should be referred to a specialist with expertise in FH for confirmation of the diagnosis. 2,114,125 Drawing of a pedigree (family tree) can be valuable in planning cascade screening in families.…”

Section: Screeningmentioning

confidence: 99%

The Agenda for Familial Hypercholesterolemia

Gidding¹,

Champagne²,

Ferranti³

et al. 2015

Circulation

588

353

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“…Although FAMCAT is calibrated for the UK population, the methodology and implementation pathway are transferable to other populations with health systems using electronic health records. Previous attempts to develop a primary care electronic search strategy in one primary care centre [31] did not achieve the necessary sensitivity and specificity. With the advantage of large numbers of diagnosed FH patients in our study, we have developed an electronic search algorithm that has achieved high levels of sensitivity and specificity for routine use at the population-level.…”

Section: Strengths and Limitationsmentioning

confidence: 97%

Improving identification of familial hypercholesterolaemia in primary care: Derivation and validation of the familial hypercholesterolaemia case ascertainment tool (FAMCAT)

et al. 2015

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Identifying patients with familial hypercholesterolaemia in primary care: an informatics-based approach in one primary care centre

Abstract: There are both diagnosed and undiagnosed cases of FH in primary care not known to secondary care. Significant potential exists to identify new cases of FH in primary care who could act as new index cases for a family screening programme.

Cited by 67 publications

References 16 publications

Improving identification and management of familial hypercholesterolaemia in primary care: Pre- and post-intervention study

Improving identification and management of familial hypercholesterolaemia in primary care: Pre- and post-intervention study

The Agenda for Familial Hypercholesterolemia

Improving identification of familial hypercholesterolaemia in primary care: Derivation and validation of the familial hypercholesterolaemia case ascertainment tool (FAMCAT)

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