New quality standards aim to improve diagnosis of familial hypercholesterolaemia (FH).
FH is a relatively common inherited condition that causes abnormally high levels of cholesterol to accumulate in the blood. If untreated it leads to premature atherosclerosis and coronary heart disease developing in young adults and even teenagers, with high risks of early death.
However, symptoms (besides elevated blood cholesterol) are rarely apparent and so the vast majority of the UK’s estimated 120,000 affected individuals go undetected, despite the importance of early diagnosis and prompt intervention (notably lifestyle advice and treatment with statins) in reducing heart disease risk.
The new standards aim to support existing guidance on the management of FH by improving diagnosis. They call for all adults with a baseline cholesterol level of more than 7.5mmol/l to be assessed for FH; for everyone with diagnosed FH to receive specialist assessment and care including DNA testing, lipid-modifying drug treatment (statins) and annual review; for all children at risk of FH to be offered diagnostic testing by the age of ten, and for all affected children to be assessed by a specialist for potential lipid-modifying drug treatment by the age of ten.The standards also specify that relatives of patients with known FH should also be offered diagnostic DNA testing ‘through a nationwide, systematic cascade process’, since they too have a high risk of also being affected.