'A simple test saved my family'

By Jane Elliott
Health reporter, BBC News

Martin had a family history of cholesterol problems

When Martin Keighley was just 33 he collapsed with a heart attack while out for a country run.

Luckily a passing doctor found the father of three and kept him alive for 20 minutes until the paramedics arrived.

Doctors tested Martin, whose own father had a heart attack at 32, and found that he had a condition called familial hypercholesterolaemia (FH).

FH is a hereditary condition that affects approximately one in 500 people in the UK and causes dangerously high levels of harmful cholesterol from an early age.

Saving lives

Without treatment, over half of men and nearly a third of women, with the condition, will have a fatal or non-fatal heart attack by the time they are 60 years old.

Martin had, before medication, a cholesterol level of 10.8 - anything above five is considered high.

It is such an easy way to identify these people Martin Keighley

Because both he and his father had early heart attacks Martin, now 45, from Cheshire, decided he had better warn his family of their elevated risk.

He rang his brother and cousins and urged them to get a cholesterol test.

But says he had to battle at the time against an ignorance about the condition.

"I felt very frustrated that at that stage there was so little knowledge. When I went to my GP I was telling him all about it," he said.

Tests revealed that of his daughter, his brother and a niece all had the condition. His other daughter has also recently been diagnosed with high cholesterol.

Siblings and children of people with FH have a 50% risk of inheriting it.

Testing success

The National Institute for Health and Clinical Excellence (NICE) has recommended that the health service screen families with a family history of FH for the condition, but the British Heart Foundation warn that unless there is a national screening programme that some will not get the treatment.

Recent research found that early identification and effective treatment of people with FH resulted in a near normal life expectancy.

Martin's eldest daughter has high cholesterol

The study, examined the prognosis of 3,382 people with FH registered from 1980 onwards by 21 clinics across Great Britain.

It found that, since the widespread use of statins to treat FH, patients could expect to live as long as someone without the condition.

Professor Peter Weissberg, medical director of the BHF, said: "People with FH can now expect to live a normal lifespan, but only if they are identified and treated.

"NICE recently recommended screening families where someone has FH.

"It is essential that health services now implement these recommendations. Any delay will lead to avoidable premature deaths."

Professor Andrew Neil from University of Oxford, who led the latest research, agreed only a screening programme of affected families, cascade testing (where family members at risk are identified and then tested), would work.

"It is vital that all PCTs implement a screening programme otherwise a patchwork service will develop with some PCTs screening and others not," he said.

Success stories

Dr Dermot Neely, consultant in clinical biochemistry and metabolic medicine at Newcastle upon Tyne Hospitals NHS Trust, said cascade testing with DNA diagnosis was very effective in practice.

"One of my patients with FH agreed to be tested as part of a national pilot study of DNA diagnosis," he said.

"She was found to be a carrier of a mutation in the APOB gene, a recognised genetic cause of FH, and was referred to our regional clinical genetics centre who undertook the family cascade testing.

"Thirty-two first and second degree relatives at greater than 25% risk were identified.

"So far 10 members of the family have been tested and five have been found to have the same mutation.

All five were referred back to my clinic for assessment, advice and treatment by their GPs when the DNA test results came through.

"I very much doubt if these previously undiagnosed relatives would have been picked up and referred in without the cascade screening initiative - it is such a powerful tool and the ability to identify the gene seemed to increase the confidence of the family in the advice they received regarding treatment."

A Department of Health spokesman said primary care trusts were expected to implement NICE guidelines.

"Where a guideline offers potential savings as well as improved care, as is the case for FH, we would expect them to have a particular interest in rapid implementation."

Martin agreed that the cascade testing, instigated by himself, had worked for his family and identified three family members with FH.

"I would like to see cascade testing for everyone. It is such an easy way to identify these people," he said.