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a blood test imageNovember 6 2017

Primary care patient records should be searched to help identify people at risk of familial hypercholesterolaemia (FH), an updated NICE guideline is recommending.

Clinical guideline CG71 now states, under the section on case finding and diagnosis, to suspect familial hypercholesterolaemia as a possible diagnosis in adults with a total cholesterol level greater than 7.5 mmol/l and/or a personal or family history of premature coronary heart disease. This is defined as “an event before 60 years in an index individual or first-degree relative.”

In addition, it says: “Systematically search primary care records for people:

  • younger than 30 years, with a total cholesterol concentration greater than 7.5 mmol/l and
  • 30 years or older, with a total cholesterol concentration greater than 9.0 mmol/l

as these are the people who are at highest risk of FH.”

CG71 “covers identifying and managing familial hypercholesterolaemia (FH), a specific type of high cholesterol that runs in the family, in children, young people and adults. It aims to help identify people at increased risk of coronary heart disease as a result of having FH.”

Currently, only 15% of the estimated 260,000 people in the UK with FH have been diagnosed, including just 600 of the 56,000 children thought to have the condition, says NICE. Identifying people with FH should include cascade testing of first, second, and, when possible, third-degree biological relatives.

In terms of drug therapy, among the updated guidelines around statins, CG71 now says: “Offer statins to children with FH by the age of 10 years or at the earliest opportunity thereafter.” It notes: “For children and young people with FH, consider a statin that is licensed for use in the appropriate age group."

The British Heart Foundation’s Medical Director, Professor Sir Nilesh Samani, said: “It’s disappointing that we have the ability to diagnose and treat people with FH, yet 85% remain undiagnosed and at risk of a potentially fatal heart attack or stroke. These new guidelines, based on the best available evidence, provide a clear approach to managing FH that could ultimately save lives.

“The BHF is committed to working with the NHS to implement this guidance as quickly as possible, including through the widespread rollout of genetic testing for families affected by FH. Cascade testing is a highly cost-effective and efficient way of saving lives. If we are to avoid sudden and unexpected deaths from FH, we need to ensure that everyone at risk has access to these tests.”

Links:
NICE announcement     
NICE CG71 ‘Familial hypercholesterolaemia: identification and management’ updated November 2017   
BHF comment   

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