Improving detection and management of familial hypercholesterolaemia in Australian general practice

Abstract

ObjectiveFamilial hypercholesterolaemia (FH) is characterised by elevated low-density lipoprotein (LDL)-cholesterol and increased risk of cardiovascular disease. However, FH remains substantially underdiagnosed and undertreated. We employed a two-stage pragmatic approach to identify and manage patients with FH in primary healthcare.MethodsMedical records for 232 139 patients who attended 15 general practices at least once in the previous 2 years across five Australian States were first screened for potential risk of FH using an electronic tool (TARB-Ex) and confirmed by general practitioner (GP) clinical assessment based on phenotypic Dutch Lipid Clinic Network Criteria (DLCNC) score. Follow-up GP consultation and management was provided for patients with phenotypic FH.ResultsA total of 1843 patients were identified by TARB-Ex as at potential risk of FH (DLCNC score ≥5). After GP medical record review, 900 of these patients (49%) were confirmed with DLCNC score ≥5 and classified as high-risk of FH. From 556 patients subsequently clinically assessed by GPs, 147 (26%) were diagnosed with phenotypic FH (DLCNC score >6). Follow-up GP consultation and management for 77 patients resulted in a significant reduction in LDL-cholesterol (−16%, p<0.01). A higher proportion of these patients attained the treatment target of 50% reduction in LDL-cholesterol (74% vs 62%, p<0.001) and absolute levels of LDL-cholesterol goals compared with baseline (26% vs 12%, p<0.05).ConclusionsA pragmatic approach integrating electronic medical record tools and clinical GP follow-up consultation is a feasible method to identify and better manage patients with FH in the primary healthcare setting.Trial registration number12616000630415.

Statin treatment and LDL-cholesterol treatment goal attainment among individuals with familial hypercholesterolaemia in primary care

“…The importance of intensive GP management of FH has been demonstrated in a study by Brett et al, which showed that implementing a pragmatic intervention plan by GPs, with the inclusion of statin/ ezetimibe medication±lifestyle advice, resulted in significant reduction in LDL-C levels. 24 While there is no clear explanation for the variation in LDL-C reduction in our study population, we hypothesise that this may be partly explained by the significant differences in baseline and treatment characteristics between individuals who attained the LDL-C treatment goal and those who did not. Perhaps older adults and those with higher LDL-C at baseline are more likely to be prescribed higher-intensity statins due to their perceived increased risk of CVD, which consequently results in better LDL-C treatment outcomes.…”

Awareness of familial hypercholesterolaemia in Australian primary care: A qualitative descriptive study

“…The participating practices were involved in an Australia-wide National Health and Medical Research Council (NHMRC) partnership grant study (GNT 1142883) into 'Improving the detection and management of familial hypercholesterolaemia in Australian primary care'. 14,15 A total of 63 interviews with practice staff were undertaken. 16 Fifteen general practices across five Australian states were involved in the study, and all were participating in the planned education intervention after the baseline interviews were conducted.…”

Hiding in plain sight: supporting primary care to find familial hypercholesterolaemia and save lives

“…Brett et al in their study have shown that by simply using the current infrastructure of general practice, those affected by this condition can be successfully identified and treated. 2 The primary care electronic health record (EHR) is of course the key game changer, enabling swift identification of people in whom the diagnosis may be likely. Several variations to the approach of using EHR to identify FH cases have been described as shown in figure 1.…”

“…Several variations to the approach of using EHR to identify FH cases have been described as shown in figure 1. Options include systematically searching the records using established diagnostic criteria, such as Dutch Lipid Clinic Network (DLCN) criteria as used in the TARB-Ex tool 2 or novel case-finding tools, such as FAMCAT. 3 In parallel, electronic searches could create patientspecific computer reminders which alert the general practitioner (GP) opportunistically when a patient at increased risk of FH is seen.…”

“…Hiding in plain sight: supporting primary care to find familial hypercholesterolaemia and save lives Nadeem Qureshi , 1 Riyaz S Patel 2,3 Familial hypercholesterolaemia (FH) is a relatively common genetic disorder, with affected individuals exhibiting a lifelong elevation of plasma low-density lipoprotein (LDL) cholesterol and a marked tendency to premature atherosclerosis and early-onset cardiovascular disease (CVD). However, unlike most genetic disorders, FH is wholly treatable, especially following the widespread availability of potent lipidlowering agents such as statins.…”