Updated NICE guideline on FH recommends DNA tests
The updated NICE clinical guideline (CG71) on the identification and management of familial hypercholesterolaemia (FH) recommends that those at risk of FH should be offered DNA tests to confirm they have the condition. Previously, LDL-C levels have been used but they are not always accurate.
The updated guideline also includes a number of key updates on the use of the new PCSK9 inhibitors, how to treat children and recommendations on how to find at-risk individuals through searching medical records.
Professor Mark Baker, director of the centre for guidelines at NICE said, “It’s also important that family members of people diagnosed with FH are traced and offered a gene test to see if they also have the condition and therefore need treatment.”
At the moment 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. Treatment for FH usually involves statins, and NICE recommends that these should be offered to children identified with FH by the age of ten years.
Commenting on the Guideline, Professor Sir Nilesh Samani, Medical Director at the British Heart Foundation, 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 updated guideline Familial hypercholesterolaemia: identification and management (CG71) is available at https://www.nice.org.uk/guidance/cg71