The National Institute for Health and Clinical Excellence (NICE) has called for the first-ever use of “cascade testing,” to identify adults and children with familial hypercholesterolaemia (FH), an inherited condition that causes severely raised cholesterol levels. If undetected, FH puts people at risk of early death from coronary heart disease.

Around 15,000 people in the UK are known to have inherited the gene which causes FH, and it is believed that 95,000 others may be undiagnosed – the condition is as common as type 1 diabetes, says NICE.

However, early treatment of FH can result in near-normal life expectancy, according to the first-ever guidance for the condition, which was published yesterday by NICE and the National Collaborating Centre for Primary Care. Therefore, it says, when FH is suspected in an individual, a process of family tracing called “cascade testing” should be used to identify their relatives who might also be at risk. The person should be asked about their family history, including the age at which any relatives developed heart disease and whether or not they smoked, and they and their relatives should be offered DNA and cholesterol testing to discover whether they have the defect. Children who are at risk because of one affected parent should be tested by the age of 10, or as soon as possible thereafter, and a nationwide, family-based follow-up system should be established to enable comprehensive identification of people affected by FH, says the guidance.

Doctors should provide individuals with evidence-based information about issues such as available treatments and lifestyle advice, and health care professionals should consider prescribing high-intensity statins to achieve a recommended reduction in low density lipoprotein cholesterol (LDL-C).

General practitioner Rubin Minhas, who chaired the group which developed the guideline, said it will provide the National Health Service (NHS) with “a pragmatic and effective blueprint for reducing tens of thousands of deaths from premature heart disease.”

“Only a fraction of people with FH in the UK are identified and the majority of people will remain unaware of their condition and untreated, often with tragic consequences. At the moment we know that, without treatment, 50% of men with untreated FH will suffer a heart attack by the age of 50, and 30% of women with untreated FH will suffer a heart attack by the age of 60. Once an individual is diagnosed with FH, the condition can be managed, usually with a statin, to help them reach normal life expectancy,” added Dr Minhas.

According to consultant chemical pathologist Elizabeth Hughes, patients are too often put on generic simvastatin when first diagnosed with FH, only to have to keep going for repeat blood tests and consultations until they are eventually moved onto a more effective, higher-intensity statin which, in reality, means either AstraZeneca’s Crestor (rosuvastatin) or Pfizer’s Lipitor (atorvastatin). “This guidance has recognised that some adults with FH need to be put onto a high-intensity statin immediately, particularly if their LDL-C levels need to be reduced by more than half,” she said.

Michael Livingston, director of the cholesterol charity HEART UK, welcomed the guidance and said that the next step will be to ensure that it is implemented “on the ground.”

Cascade testing has been proven as an effective means of identifying the “missing” people with FH who will usually be completely unaware that they have this condition, he said, but warned that a considerable investment in infrastructure will be required for cascade testing to be successful. “NHS Trusts across the country - and indeed health systems across the globe - will need to be linked and able to work together in order to reach all members of affected families,” he said.

A cascade testing pilot, funded by the Department of Health, has already been trialled very successfully in some parts of the UK and is well-established in other European countries such as the Netherlands, the charity notes.