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- Study questions effectiveness of genetic testing strategy for inherited high cholesterol, Steve Humphries publishes in The Lancet
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Blood screening that is preventing heart attacks–but not in England, Prof Humphries is mentioned in a Guardian article
29 January 2013
Suzanne Sheppard is painfully aware of the devastation heart disease can wreak. Her father, Christopher Rogers, died of a massive heart attack in 1988 when he was 41 and she was 15. His father had also died unusually young – at 54 – and, again, of what doctors call a myocardial infarction.
Heart trouble can be brutally genetic, sometimes cutting lives short in generation after generation of the same family. So it is with Sheppard, who is the third generation of her family at risk of dying early. The 40-year-old has familial hypercholesterolaemia (FH), the inherited cardiac condition that killed her father and grandfather and causes one person a day in the UK to have a heart attack. FH sufferers develop dangerously high levels of bad cholesterol in their blood at an early age. If either parent has the condition, children have a 50/50 chance of developing it.
Sheppard's father's FH was not diagnosed while he was alive. But because she is based in Cardiff, she at least knows she has the condition, as the NHS in Wales is tracking down everyone affected to give them statins that will significantly reduce their risk of dying.
Doctors and nurses there use a system called "cascade testing", which means that, once someone with FH has been identified, every member of their family is offered a blood test. "It's a lifesaver because if you're not identified and treated you're at extremely high risk of having a heart attack and potentially dropping down dead. That's what happened to my dad," said Sheppard. Scotland and Northern Ireland also use cascade testing. England does not.
Now top doctors and heart charities are urging the NHS and ministers to introduce the system UK-wide. They say the move is urgent as only one in eight of the 120,000 people in the UK with FH have been identified. That means there are about 100,000 cardiac timebombs.
Often the first sign of FH is a 40- or 50-something having a heart attack, 30% of which are fatal. While statins do not cure the condition completely, they make a coronary seizure much less likely. Identifying all the hidden 100,000 would save more than 1,000 lives, doctors say.
"Comprehensive cascade testing has been successfully trialled in Wales and must urgently be adopted throughout the UK," said Steve Humphries, professor of cardiovascular genetics at University College London. He said England's failure to follow the 2008 recommendation from the National Institute for Health and Clinical Excellence (Nice) to screen entire families amounted to "a great missed opportunity".
Relying on GPs to spot patients with high levels of harmful LDL cholesterol and refer them to an NHS lipid clinic for testing, which should identify their FH, is inadequate, according to Humphries.
He said: "The best way to limit the damage caused by coronary heart disease is to identify those at risk as early as possible. The greatest opportunity for such disease prevention lies in diagnosing and treating people with FH and screening their families."
Humphries estimates that 101 cardiovascular deaths will be avoided for every 10,000 FH patients aged 30 to 86 treated with high intensity statins to reduce their level of LDL cholesterol.
One in 500 people has FH. It is caused by a flaw in any of three genes (LDL-receptor, ApoB or PCSK9) – what doctors call "a spelling mistake" in their genetic make-up. It means that by the age of 60 more than 50% of men and 30% of women with FH will have developed heart disease.
"So if we tested 500 members of the general population we would find one person with it. But if we tested an FH patient we'd find that about half their siblings and children have it. Cascade screening is an effective way of finding FH patients and thus saving lives. This is preventive medicine," added Humphries.
He recently met Professor Huon Gray, the government's heart tsar, to try to persuade him to get the NHS in England to start testing, and believes the coalition's forthcoming cardiovascular strategy is the ideal opportunity to finally introduce it.
The British Heart Foundation (BHF) and Heart UK, a charity that raises awareness about problems linked to cholesterol, are also lobbying for it. "When FH is undiagnosed and untreated, whole families can needlessly suffer long-term ill-health and premature death from heart disease. With effective, affordable means of diagnosing and treating FH readily available, this cycle of early deaths must be stopped," said Jules Payne, Heart UK's chief executive. The condition, though frequently fatal, is being ignored, Payne claims.
When Wales introduced cascade screening in autumn 2010 it had 97 known FH patients. Since then it has identified 372 others from testing 1,141 people. They are equally split between men and women and the youngest so far has been just eight.
"Once we've identified a new FH patient from the testing, we then offer the test to other family members. That's when the cascade starts. We do it with siblings, parents and children and then it's cascaded from them," said Dr Dev Datta, a consultant in metabolic medicine and medical adviser to the Wales FH cascade testing service.
"Once you get a positive you continue testing across the generations within that family tree,"
Given the 50/50 risk of passing on FH, each patient usually has two or three close relatives with it too.
Professor Peter Weissberg, the BHF's medical director, said: "Cascade screening should be a priority for the NHS in England, which should be doing what Wales is doing. In England at the moment the risk is that patients go on and have heart attacks if they're not identified as being at risk, and some of those people will die. That situation is wholly avoidable. These are people who won't die today or tomorrow but they might in 15 or 20 years' time. We are trying to do something now that will stop people dying then."
Weissberg is worried that none of the three major new bodies or sets of bodies created by the NHS shake-up that comes into force in April – the NHS commissioning board; local councils, who will start to be in charge of public health; or the 211 GP-led clinical commissioning groups – has so far taken responsibility for cascade testing, and so it will not happen.
Gray declined to say if he supported the calls for cascade testing. "FH is being considered as part of the development of the cardiovascular outcomes strategy, but I can't say much beyond that because priorities for inclusion have not been agreed," he said.
A spokeswoman for the NHS commissioning board was similarly noncommittal.
Back in Cardiff, Sheppard, who works as a paralegal, takes her statins – two blue tablets three times a day – and contemplates the day when her Lego-obsessed, taekwondo-practising six-year-old son, Cameron, has his blood test too. "That won't be until he's 10, because you don't start getting statins until that age. He has a 50/50 chance of having FH.
"But I'm not overly concerned because I know that because we've got cascade screening so he will be tested early and treated if necessary, and the medication is good. That's given me peace of mind," she said.
Cameron may yet become the fourth generation of the family to have it. "It's great that the NHS is going out there and actively looking for people with this condition.
"I've seen how the death of a loved one at such a young age devastates families and can rob them of a husband, father, mother – anyone.
"Medical science means that many of these deaths are totally avoidable as there's no reason why anyone identified and put on statins at an early age can't lead a long and healthy life, just like every other member of the general public. England should definitely follow Wales's lead and do this."
Page last modified on 29 jan 13 09:46