East Genomics

Mobile menu open

Finding the missing 92%…how a genetics service is helping to find people at risk from an underdiagnosed cholesterol condition

This month a new pilot health service in Norfolk and Waveney has started to identify people at highest risk from a common inherited condition that can lead to dangerously high levels of cholesterol in the blood. This condition is known as Familial Hypercholesterolemia, or FH for short.

Coinciding with Heart UK’s (opens in a new tab) National Cholesterol Month this October, the new pilot service based at Norfolk and Norwich University Hospitals (NNUH) is working with Norfolk & Waveney GP Practices to identify people at highest risk.

What is FH?

FH is a genetic disorder that means people who have it are at greatly increased risk of premature coronary heart disease. It is one of the most common inherited disorders, with 1 in 250 people affected nationally. There is also a 50:50 or 1 in 2 chance that an affected parent may pass the condition on to their children.

Despite the increased risks of premature heart disease, strokes, heart attacks and vascular disease commonly associated with FH, nationally only 8% of people thought to have the condition have been identified, leaving the vast majority of those affected at risk.

Across Norfolk and Waveney, there are estimated to be around 4,000 people with FH, but only a small percentage have been identified and sent for testing.

Shelina Rajan, Clinical Nurse Specialist – FH and Lipid Management, at Norfolk and Norwich University Hospitals (NNUH) explains:

We are supporting GP Practices to identify more people at high risk of FH earlier, to enable them to start management and treatment to improve their long-term health and outcomes.

Shelina Rajan
Shelina Rajan, Clinical Nurse Specialist – FH and Lipid Management, at Norfolk and Norwich University Hospitals (NNUH)

Shelina continues: “There is no cure currently, but if we can identify and test people at higher risk, this will lead to early identification and treatment which can greatly reduce the risk of developing coronary heart disease”.

The aim of our new service is to identify, test and diagnose more local people affected by the condition so that they can enter monitoring, management and treatment which has a huge impact on their health and life chances. It also means that their family members can be offered genetic testing to determine if they have also inherited the condition.

Shelina and consultant colleague Dr Javier Gomez are running the pilot service from Norfolk and Norwich University Hospital which is the FH Hub for the service.

Dr Javier Gomez continues: “So far we have worked closely with four GP Practices in Swaffham and Downham to provide additional expertise and resource to identify their patients who may be at highest risk of FH using patient records and an algorithm designed to assess risk of FH".

“We then contact those patients and invite them to join a patient information portal, which explains more about our pilot service and provides them with information about FH. The next step is to take blood samples from high and very high risk patients and send these away for genetic testing at our regional Genomic Laboratory Hub, which has it’s lead site at Cambridge University Hospitals".

To date the team have identified 43 people in the high or very high risk group, and of those 22 have had a telephone assessment with Shelina, undergone genetic counselling and have consented to undergo genetic testing. From this first round of genetic testing, 9 patients have received their result which is a good outcome for these patients and the Pilot FH Identification Project.

What patients are saying

The new service is going down very well with patients.

Ellen from Necton, said: “I had a telephone conversation with Shelina regarding genetic cholesterol testing which I have agreed to participate in. Shelina explained the whole process fully and made sure I understood the reasons behind it. She was a joy to chat with and very informative”.

Christine from Norfolk also speaks highly of the new service: “I have recently been approached by the NHS, to take part in a pilot scheme to see if my high cholesterol is due to a faulty gene, which can run in families. It consisted of answering a few questions about my health, some family history and a blood test.

I would encourage anyone who has been approached to take part if they can”.

Christine from Norfolk

Further information

You can find out more about the FH pilot service on our website: Familial Hypercholesterolemia (FH).

Information for patients and the public can be found on the Heart UK (opens in a new tab) and British Heart Foundation (opens in a new tab) websites.

Healthcare staff can also access a range of information and resources to support them in the early detection and management of FH on our FH Information Zone.