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Helping GPs find underlying inherited lipid disorder

Audit developed in collaboration with NHS Medway Clinical Commissioning Group

BMJ, Medway CCG, HEART UK and Sanofi are currently working together to establish similar programmes, utilising the Medway Audit tool and the Audit+ software, throughout England.

GPs face the daily challenge of identifying patients who may have an underlying inherited lipid disorder, but the diagnosis is often overlooked in routine care and the opportunity for early and effective intervention missed.

Familial hypercholesterolaemia (FH) is an autosomal dominant inherited lipid disorder that confers a risk of premature coronary heart disease (CHD) because of lifelong exposure to high concentrations of low-density lipoprotein-cholesterol (LDL-C). FH is a readily preventable cause of CHD, and treatment with lipid-lowering therapies reduces LDL-C concentrations and improves CHD outcome and survival. However, many index cases of FH first present with symptomatic CHD.

At least one in 500 people are heterozygous for FH, suggesting more than 120,000 people are suffering from FH. A national audit conducted in 2010 estimated that only about 15,000 people are diagnosed. Under diagnosis is a significant clinical issue and represents a major gap in coronary prevention.

Although NICE guidelines and Quality Standards for the management of FH (QS71) [NICE QS41] recommend considering the possibility of FH in adults with raised cholesterol, especially in those with a personal or family history of CHD, no systematic diagnostic screening programme has been introduced in England. In response to the 2008 NICE guidance, Medway Clinical Commissioning Group (CCG) (then a Primary care Trust) collaborated with BMJ and developed an FH audit tool utilising the Audit+ software. The Medway FH Audit Tool was used initially to identify all patients already with an FH diagnosis. Further screening identified a cohort of ‘at risk and unscreened’ patients within each GP practice by identifying all unassessed patients with elevated total cholesterol and/or LDL-C (Adults: >7.5 mmol/L and/or >4.9 mmol/L; child/young person <16 years: >6.7 mmol/L and/or >4.0 mmol/L). The initial findings were a baseline prevalence of FH of 0.13% (one in 750 people), and 0.59% of patients (around 1600 people) were at risk and unscreened. After 2 years of using the audit tool, the prevalence of patients diagnosed with FH had increased to 0.22%—from one in 750 patients to one in 450.

To provide further resources to screen more patients, HEART UK supported by Sanofi initiated an FH Nurse Advisor Programme with the CCG. The additional assessments and clinics increased the number of patients diagnosed with FH to 0.28% (one in 357 people) over an eight-month period and a reduction in those deemed at risk and unscreened (reduced from 0.58% to 0.14%).

BMJ, Medway CCG, HEART UK and Sanofi are currently working together to establish similar programmes, utilising the Medway Audit tool and the Audit+ software, throughout England. 

For more details about the Medway FH Audit please see ‘Systematically Identifying Familial Hypercholesterolaemia in Primary Care: An Audit within the Medway Clinical Commissioning Group’

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