Call for improved genetic testing for cholesterol disorder

MedWire News: Most people in England and Wales with a genetic disorder that causes high cholesterol levels are unaware that they have the condition because of lack of testing, results of a pilot audit suggest.

Familial hypercholesterolaemia is an inherited disorder that causes high levels of ‘bad’ cholesterol and results in a significantly increased risk of heart disease among men from the age of 50 years and women from the age of 60 years.

Although the condition can be effectively treated with drugs called statins, it is thought that around 85% of the estimated 120,000 UK people with familial hypercholesterolaemia are unaware that they have the condition, and are therefore missing out on treatment.

One of the reasons for this lack of awareness is that genetic screening among high risk families is patchy, according to a pilot audit of 12 hospitals in England and Wales conducted by the Royal College of Physicians.

The audit, funded by the Department of Health and the Welsh Assembly, found that although care for identified patients with familial hypercholesterolaemia is generally good, very few of their relatives are being systematically genetically screened for the condition.

Furthermore, the audit found that there are not enough facilities for diagnosing and treating children with familial hypercholesterolaemia in the right care settings.

Improving resources for screening and treatment of familial hypercholesterolaemia will not only save many lives, but will also save the National Health Service vital resources in future, say the audit’s project director Professor Steve Humphries and team. 

They therefore make a number of key recommendations, based on guidance from the National Institute for Health and Clinical Excellence.

These include the provision of additional resources, including extra funding for DNA tests and more specialist doctors and nurses, to identify people with familial hypercholesterolaemia, the development of systems to carry out ‘cascade’ family testing, following up families and setting up a familial hypercholesterolaemia patient database, and clearly defined and agreed care pathways and facilities for familial hypercholesterolaemia patients, particularly children, in each National Health ServiceTrust.

Professor Humphries said: "The National Institute for Health and Clinical Excellence guidelines have laid out the best way to identify and treat people with familial hypercholesterolaemia, and we know that this will save lives and is very cost effective. The problem at the moment is that most National

Health Service Trusts haven't yet been able to find funding for the DNA testing or the nursing and support staff to carry out the cascade family testing. Sorting this out is a key priority."

Commenting on the audit, Dr Mike Knapton, associate medical director at the British Heart Foundation said: "Funding should be made available as a matter of urgency so we can test the family members of people with familial hypercholesterolaemia.  There are around 100,000 people going about their lives unaware they are at risk of this silent killer – people who, with the right treatment and management could have a normal life expectancy.  The longer the health service delays making this vital investment lives will continue to be needlessly cut short."