Heart UK accused PCTs and other health bodies in England of a ‘shocking’ failure to prioritise familial hypercholesterolaemia (FH), believed to affect 120,000 people in the UK.
The charity estimates that at least 80% of people with the condition remain undiagnosed, and it urged the NHS to adopt a national programme for testing.
A report launched on Wednesday by Virendra Sharma MP (Lab, Ealing Southall) outlined how the NHS can save money by preventing the need to treat patients for chronic heart disease.
If half of FH sufferers were diagnosed and treated, the NHS could save £1.7m a year, the report said.
Scotland, Wales and Northern Ireland run campaigns for the condition, but there is no national FH programme in England.
Essex GP Dr David Milne, co-chair of the Heart UK FH guideline implementation team said: ‘Primary care clinicians like me want to provide the best care for our patients in the long term and we need the support of specialist services to pick out those families that need advice and intervention from a young age, rather than just providing care for those in middle age and older.’
He said the report highlighted the need for better collaboration between primary and secondary care. He added that clinical awareness of FH must improve among clinicians.
Heart UK chief executive Jules Payne said: ‘It is shocking that English health authorities are not taking FH testing as seriously as they could, particularly when a national programme would save lives and save money.’
NICE published a guideline for FH treatment in 2008. This advocated diagnosis through ‘cascade screening’ – targeted blood and genetic testing in families with a history of cholesterol and premature heart disease.
FH is a genetic condition that affects one in 500 people. If undiagnosed, sufferers run a higher risk of premature death from cardiovascular disease. Only 15-20% of people believed to have the disease have been formally diagnosed in the UK.