Identifying familial hypercholesterolaemia and optimising secondary prevention medication

Cardiovascular disease (CVD) is a major burden of ill-health in England. The NHS Long Term Plan aims to reduce the number of myocardial infarctions in England by 150,000 over the next ten years and to identify 25 percent of patients with familial hypercholesterolaemia. 

Familial hypercholesterolaemia is a genetic condition with a prevalence of 1 in 250, where levels of LDL cholesterol are high from birth. This increases CVD risk meaning that people with this condition and members of their family often have a myocardial infarction (MI) at an early age, often below 60 years. 

In 2016 NICE Technical Appraisals outlined the use of PCSK9 inhibitor medication by secondary care to reduce cholesterol and further cardiovascular events in a specific high cardiovascular risk population. Evidence from a meta-analysis suggests for each 1mmol/L reduction in non-HDL cholesterol there is 22 percent reduction in risk of further MI or stroke. PCSK9i are cost-effective treatments for reducing cholesterol and risk of CVD. However, system-wide use is significantly lower than expected

Using Pathway Transformation Funding, supported by the Academic Health Science Networks (AHSN), a novel pathway was developed where a hospital-based prescribing pharmacist worked within general medical practices to identify and optimise secondary prevention medication including PCSK9i initiation, supported by a Consultant Chemical Pathologist.

This novel use of a hospital-based prescribing pharmacist reduced referrals to a lipid clinic

Using clinical read codes, searches highlighted patients who may be eligible for PCSK9i. A quality improvement approach was used to refine the patient search strategy and subsequently adopt national searches from AHSN. Through engagement with general medical practices, roles were agreed to enable remote reviews by a pharmacist. Using telephone consultations and a patient-centred approach, lipid optimisation and PCSK9i therapy was discussed. Eligible patients wishing to commence PCSK9i were sent information leaflets and placebo devices by post and an online pharmacist clinic was arranged. 

In January 2021, one Primary Care Network with a list size of 51,000 was reviewed. There were 276 (0.54 percent) high risk patients requiring secondary prevention who were highlighted, and their records were reviewed by prescribing pharmacist. 

Of these, nine patients (3.3 percent) were immediately eligible for PCSK9i therapy and 56 patients (20.3 percent) required an optimisation step prior to PCSK9i initiation, as per NHS England Lipid management pathway. Additionally, 12 patients (4.3 percent) were discussed at MDT to assess criteria for familial hypercholesterolaemia and if further investigation was required. 199 patients were coded for ischaemic heart disease but they did not meet the NICE criteria for PCSK9i.

The target cholesterol level in secondary prevention is non-HDL cholesterol of less than 2.5mmol/L. Nine patients started PCSK9i therapy and achieved the target. Out of 56 patients requiring optimisation, 41 had an oral optimisation step and 15 declined. From the group of 41, eleven patients achieved a non-HDL cholesterol of less than 2.5mmol/L, 23 are still awaiting blood results and seven required a second optimisation step. 

This novel use of a hospital-based prescribing pharmacist reduced referrals to a lipid clinic, supported case finding of patients requiring specialist review, and initiated PCSK9i using an online clinic. By identifying and discussing different options for lipid lowering medication and using shared decision making, we can support patients to try new medication or re-try medication which reduces their cholesterol and risk of heart attack and stroke. 

In 2022-2023 the primary care Direct Enhanced Service contract includes lipid optimisation (CVD03) and familial hypercholesterolaemia case finding (CVD04). We have found that this model is a practical way to achieve these targets and we are supporting local primary care colleagues to use it. 

The opinions expressed in this article are those of the author. They do not purport to reflect the opinions or views of the UKCPA or its members. We encourage readers to follow links and references to primary research papers and guidance.

Competing interest statement: 

The author declares: The lipid optimisation project and its deliverables have been funded jointly by Amgen and Sanofi under the provisions of the Accelerated Access Collaborative and represents a collaboration between Amgen, Sanofi, NHS England, NHS Improvement and other relevant stakeholders. The author has received conference fees and travel from Sanofi and received honoraria from Amgen and Sanofi.


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