Familial hypercholesterolaemia work programme

What is the programme and its aims?
The Cardivascular Clinical Network is scoping a pilot to improve the primary care identification of familial hypercholesterolaemia. The pilot will deploy a familial hypercholesterolaemia case ascertainment tool (FAMCAT) into existing GP systems to identify patients with high probability of familial hypercholesterolaemia. The tools used currently make inefficient use of limited primary care resources, yielding a much larger number of inappropriate referrals to specialist genetic and lipids services. The tool we are proposing to use is far more sophisticated in yielding positive cases compared to other available tools as it factors in not just lipid profile, but existing statin therapy (and therefore an estimate of untreated lipid levels), secondary causes of high lipids (eg hypothyroidism) and family history.

Funded familial hypercholesterolaemia nurses will counsel identified patients prior to referral for genetic testing and/or lipidologist as well as oversee cascade screening

Why is the programme required?
Current estimates for familial hypercholesterolaemia range from 1 in 500 to 1 in 250 and, it is quoted that some European countries have a prevalence as high as 1 in 200. Currently, 80-90% of familial hypercholesterolaemia cases remain undiagnosed in the UK. A number of clinical commissioning groups within the East Midlands have a significantly higher than national average for heart attacks in patients under the age of 50. It is likely that many of these patients would have had undiagnosed familial hypercholesterolaemia prior to their coronary event and we believe the pilot has real potential to detect these patients (and other high risk patients) at an earlier stage

Who are the partners?

  • Acute provider trusts
  • Clinical commissioning groups
  • British Heart Foundation
  • Heart UK
  • Primis

How are we making a difference?
By early identification of positive index cases and cascade testing to identify relatives with defective gene and commencing on suitable treatment. Positive impact on QALYs gained and appropriate referral/treatment and overall savings to the NHS. By delivering a fully co-ordinated service, benefits are more significant.

What’s next?
Once scoping is complete and funding for resources identified, the next step will be to pilot the use of FAMCAT tool and familial hypercholesterolaemia nurses with four clinical commissioning groups that top the list of heart attacks for under 50 years. The pilot will be evaluated and lessons learned and impact will inform a business case for wider roll out.

What are the key resources?

  • NICE Guidelines CG71
  • Health and social care information data (heart attack under 50s)
Who to contact for further information?
Please contact This email address is being protected from spambots. You need JavaScript enabled to view it., Senior Quality Improvement Lead, for further information.