Practice records ‘should be searched’ for patients with suspected inherited high cholesterol

Scanning patient records for evidence of suspected familial hypercholesterolaemia is cost effective and means general practice can help identify tens of thousands of people with the potentially lethal condition, according to new research.

22 June 2018, by Siobhan Chan

Doctor working at a computer

GPs are being encouraged to search their records for patients who could have familial hypercholesterolaemia (FH), after a BHF-funded study1 found that identifying and referring these people for genetic testing is cost-effective.

“Demonstrating how very cost-effective it is to find potential FH patients by electronic note-searching of GPs records is a major step forward,” said study co-author Steve Humphries, Emeritus Professor of Cardiovascular Genetics at University College London.

“This data should encourage GPs to carry out the note searching and to identify possible FH patients for referral on to expert lipid clinics,” he said.

Cascade testing for FH is already known to be clinically and cost effective2, but estimates suggest that only half of all FH carriers are likely to be identified through cascade testing alone3.

NICE guidance recommends that primary care records are systematically searched for people under 30 years of age with a total cholesterol concentration greater than 7.5 mmol/L, and people 30 years or older with a total cholesterol concentration greater than 9.0 mmol/L.

The research, published in the journal Atherosclerosis, found that searching primary care databases for patients with a recorded total cholesterol of greater than 9.3mmol/L, and assessing their risk of FH, was more cost effective than cascade testing alone.

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Searching databases

The study estimates that around 115,000 to 267,000 people in England and Wales have FH but only around 18,000 have been diagnosed.

Professor Humphries estimates that for a general practice with an average population of 10,000 patients, around 30-40 people will have FH. These people are likely to be clustered in 10-15 families, he believes.

The study recommends that patients are assessed using the Simon Broome or Dutch Lipid Clinic Network criteria, and that clinicians use a low threshold for referral. This was defined as “possible” or “definite” when using the Simon Broome criteria, or scores greater than 5 when using the Dutch Lipid Clinic Network criteria.

Appropriate patients should then be referred to a lipid clinic, where DNA testing is likely to confirm an FH diagnosis in around one-in-four patients referred.

Patients who do not have an FH-causing mutation can be most appropriately managed in general practice. Monogenic FH patients should be managed in lipid clinics and potentially discharged back to GPs when lipid levels have been lowered to target, according to Professor Humphries.

“This use of genetic information to ‘tailor’ the patient care pathway and patient management is a prime example of DNA-based ‘personalised medicine’, which offers both patient benefit and overall cost savings for the NHS,” he said.

The study found the incremental cost-effectiveness ratio of clinical assessment using the Simon Broome criteria was £13,365 per quality-adjusted life year (QALY).


1. P Crosland et al (2018). Cost-utility analysis of searching electronic health records and cascade testing to identify and diagnose familial hypercholesterolaemia in England and Wales. Atherosclerosis, Volume 275, August 2018, Pages 80-87, https://dx.doi.org/10.1016/j.atherosclerosis.2018.05.021

2. Nherera et al (2011) Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies. Heart., 97(14):1175-81. https://dx.doi.org/10.1136/hrt.2010.213975

3. Pedersen KMV, Humphries SE, Roughton M, Besford JS. (2011) National Clinical Audit of the Management of Familial Hypercholesterolaemia. Clinical Standards Department, Royal College of Physicians


For information and resources on FH, see our guide to planning and developing FH services.

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