A new pilot is identifying people at risk from Familial Hypercholesterolemia (FH), one of the most common treatable genetic disorders that increases the likelihood of premature heart disease.

FH affects around 220,000 people nationally, but only 8% have been identified, and across Norfolk and Waveney around 4,300 people have FH, with just 300 diagnosed. An affected parent has a 1 in 2 chance of passing the condition on to their child. Untreated, it can lead to an increased risk of angina, heart attacks and strokes earlier in life because of high LDL, or “bad cholesterol”, as the genes responsible for regulating cholesterol are not working effectively.

Shelina Rajan, Clinical Nurse Specialist, and Consultant Javier Gomez, Consultant Chemical Pathologist, are running the pilot. “We are supporting GPs and other healthcare professionals to identify more people at high risk of FH,” said Shelina. “This means we can do a simple genetic blood test and treat people earlier to greatly reduce their risk of developing heart disease.”

The earlier someone with FH is identified, the sooner they can be started on lipid lowering treatment, which greatly improves their long-term health. The new service also offers people genetic counselling and support while waiting for the results. To date, the team has identified 43 people in the highest risk group, and of those 30 have undergone genetic counselling and genetic testing. From this group, 23 have received their result which is a good outcome for them and the service.

Javier added: “People we identify as being at higher risk are invited to view a patient information portal, which explains more about our service and FH. We are now rolling out the service to all 105 GP practices across Norfolk and Waveney.”

Further information for patients regarding Familial Hypercholesterolemia (FH) is available on the websites below:

● HeartUK:-https://shorturl.at/cklm5
● BritishHeartFoundationHeartUK:-https://shorturl.at/qY126

(Source: NIHR Clinical Research Network)

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