Feasibility of Improving Identification of Familial Hypercholesterolaemia In General Practice: An Intervention Development Case Study


Familial hypercholesterolaemia (FH) is one of the most common inherited autosomal dominant disorders and is associated with elevated low-density lipoprotein cholesterol levels. In the UK, around 1 in 500 to 1 in 200 people are affected by the heterozygote form of this condition. Left untreated this can lead to premature coronary heart disease in those individuals affected.

However, with appropriate lipid-lowering treatment, intervention is highly effective and life expectancy can return to normal. Despite the overwhelming case for treatment and national guidelines recommending early identification, it is estimated that up to 80% of heterozygote FH still remain unrecognised. Of most concern, individuals with raised cholesterol levels documented in general practice (GP) medical records may not be recognised to have possible FH. However, primary care is an ideal setting to identify possible FH cases through identification of those with raised cholesterol and relevant family histories. Current UK National Institute for Health and Care Excellence in August 2015, and was approved by NRES Committee West Midlands—Solihull (Reference 12/WM/0322).


To assess the feasibility of improving identification of familial hypercholesterolaemia (FH) in primary care, and of collecting outcome measures to inform a future trial.

Design & Setting

Feasibility intervention study of 6 general practices (GPs) in central England.


831 eligible patients with elevated cholesterol >7.5 mmol/L were identified, by search of electronic health records, for recruitment to the intervention.


Educational session in practice; use of opportunistic computer reminders in consultations or universal postal invitation over 6 months to eligible patients invited to complete a family history questionnaire. Those fulfilling the Simon-Broome criteria for possible FH were invited for GP assessment and referred for specialist definitive diagnosis.

Outcome Measures

Rates of recruitment of eligible patients, identification of patients with possible FH, referral to specialist care, diagnosis of confirmed FH in specialist care; and feasibility of collecting relevant outcome measures for a future trial.


Of 173 general practices, 18 were interested in participating and 6 were recruited. From 831 eligible patients, 127 (15.3%) were recruited and completed family history questionnaires: 86 (10.7%) through postal invitation and 41 (4.9%) opportunistically. Among the 127 patients, 32 (25.6%) had a possible diagnosis of FH in primary care. Within 6 months of completing recruitment, 7 patients had had specialist assessment confirming 2 patients with definite FH (28.6%), and 5 patients with possible FH (71.4%). Potential trial outcome measures for lipid tests, statin prescribing and secondary causes of hypercholesterolaemia were extracted using automated data extraction from electronic records alone without recourse to other methods.


The intervention is feasible to implement in GP, and facilitates recruitment of patients with raised cholesterol for targeted assessment and identification of FH. Extracting data directly from electronic records could be used to evaluate relevant outcome measures in a future trial.

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