Improving detection and management of familial hypercholesterolaemia in Australian general practice

Abstract

Objective: Familial 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.

Methods: Medical 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.

Results: A 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).

Conclusions: A 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 number: 12616000630415.

Keywords: atherosclerosis; delivery of healthcare; electronic health records; global burden of disease; hyperlipidemias.

Figure 1

Flow diagram for TARB-Ex screening, medical record review, clinical assessment and follow-up consultation. DLCNC, Dutch Lipid Clinic Network Criteria; FH, familial hypercholesterolaemia; LDL, low-density lipoprotein.

Figure 2

Yield of detection of 147 patients with phenotypic familial hypercholesterolaemia. FH, familial hypercholesterolaemia; GP, general practitioner.

Figure 3

Plasma lipid concentrations in the 77 patients at baseline and after GP consultations. GP, general practitioner; HDL, high-density lipoprotein; LDL, low-density lipoprotein.

Figure 4

Percentages changes in plasma concentration of LDL-cholesterol in patients with or without changing to a higher intensity statin LDL-cholesterol lowering treatment. *Increased intensity of treatment refers to 28 patients started on stain therapy (n=5) or changed to a higher dose of existing stain (n=22) or received a higher potency statin (n=1) for LDL-cholesterol lowering. LDL, low-density lipoprotein.

Figure 5

Attainment of LDL-cholesterol by a 50% reduction from highest untreated level (A) and an absolute target value for primary and secondary prevention (B) in the 77 patients at baseline and after GP consultation. Baseline value refers to the closest treated/untreated LDL-cholesterol level to the first consultation. Target absolute value of LDL-cholesterol refers to an absolute level of LDL-cholesterol (ie, <2.6 mmol/L or <1.8 mmol/L for primary and secondary prevention). GP, general practitioner; LDL, low-density lipoprotein.