Have YOU inherited the heart attack gene He was a healthy eater, but Jonathan still needed a triple heart bypass
00:43 GMT, 29 May 2012
Avid runner: But an inherited condition almost cost Jonathan Cornall his life
On a beautiful December day just before Christmas, the call of the footpath winding past the holiday cottage I’d rented on the banks of the idyllic, reed-fringed Suffolk river was irresistible.
This, I thought, as I pulled on my running shoes and headed out into the crisp morning air, was one of those days when it really felt good to be alive.
I’d gone perhaps half a mile when I first noticed the pain. It wasn’t severe — more an ache, bang in the centre of my chest.
I put it down to a mild lung infection, something I’d probably picked up running in the dusty United Arab Emirates where I’d been working.
But as I pressed on, the ache turned into pain. Reluctantly, I came to a halt.
When I returned to Dubai in January, I kept trying to exercise as normal, but my girlfriend Katie grew tired of my complaining about the pain in my chest every time I ran or swam and insisted I went to a clinic.
Like most men, I have to be bullied to go to the doctor. And bullying, it turns out, can save your life.
I saw a GP who, after finding my blood pressure was high, ordered blood tests, which showed I had abnormally high levels of cholesterol. It came as news to me. Before I knew it, I was seeing a private cardiologist.
He carried out a CT angiogram — a scan of my coronary arteries, which appeared to show a number of significant blockages.
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'I needed a triple heart bypass operation – and the doctors said I needed it sooner rather than later,' said Jonathan
My first clue that all was not going to plan was the sudden termination of the procedure after just a few minutes and my return to my private room.
Having fasted, I was hungry and wolfed down the tuna sandwich that was waiting for me.
I was lying there chatting to Katie when in walked the two cardiologists.
There was no sugar coating, only bad news.
I had at least three substantial arterial blockages.
One artery was more than 95 per cent blocked, and none could be safely treated by stenting.
These blockages were causing the pain in my chest — and if they rupture, the debris they throw out can cause a heart attack or stroke.
I stared blankly. I’m not stupid, but somehow my mind wasn’t allowing me to grasp the only remaining alternative.
I needed a triple heart bypass operation — and the doctors said I needed it sooner rather than later.
Shock can hit you in various ways. In my case, the colour drained from my face and I threw up my sandwich.
Katie passed me a paper towel and started asking practical questions. I went into theatre at 4pm the following day.
Twelve weeks later, my spectacular scars — down my chest, which was cracked open from throat to sternum, and on the insides of both legs, where veins were harvested for bypass grafts — are all but healed.
I still have some pain in my chest muscles, but just a week ago I started running again. Slowly.
I am on medication for the rest of my life — statins to control the cholesterol and two drugs to lower my blood pressure — but at least my life will run its natural course.
Now the drama has subsided, I have started to look more closely at the near-miss that almost took my life.
How could this have happened to me Yes, I was 56, but at 13 stone I was a good weight for my 6ft height.
I ate and drank sensibly, had never smoked, exercised regularly — obsessively, some might say, running, swimming or hitting the gym at least once a day.
What I discovered shocked me. Coronary heart disease kills more than 100,000 people in the UK every year.
The chief risk factors are obesity, smoking and inactivity, all of which contribute to atherosclerosis, a thickening of the arteries caused by the build-up of deposits of fatty material — cholesterol.
But I was one of an estimated 120,000 people in England for whom high levels of bad cholesterol are the product of an inherited genetic condition, Familial hypercholesterolaemia.
They are unlikely to know anything about it until the damage is done.
The good news is that with a DNA screening test, this condition can be detected easily and cheaply, and treated effectively and economically with statins.
Coronary heart disease kills more than 100,000 people in the UK every year
Of course, screening the entire population for a condition suffered by only one in 500 people would be hugely costly — but thanks to a proven and targeted technique known as ‘cascade screening’, this isn’t necessary.
Because most FH is inherited from one or another parent, when a sufferer is identified, close relatives can also be tested — a process that in a short time could identify the vast proportion of all cases in the country.
A patient register would ensure that future generations were also tested and, if necessary, treated.
The government health watchdog the National Institute for Health and Clinical Excellence issued guidelines for the conduct of such screening in 2008.
But Steve Humphries, professor of cardiovascular genetics at University College London, says that not a single Primary Care Trust in England has begun carrying out tests. That, he says, ‘is a scandal’.
An audit of the NHS published last year found that only 5 per cent of families with the condition in England had been tested, compared to 83 per cent in Wales, thanks to an independent initiative launched by the Welsh assembly and part-funded by the British Heart Foundation.
Sixteen months on, says Professor Humphries, who authored the college’s report, the situation is even worse, and costing an estimated life a day in England.
‘It’s astonishing. People are dying. It’s a rough estimate, but probably one person a day with FH has a heart attack.’
Research carried out by the charity Heart UK shows that if cascade screening was carried out as recommended by NICE, the NHS in England could save 6.9 million a year — to say nothing of the hidden costs to the country, in terms of lost revenue to the Treasury and the emotional suffering of the thousands of people bereaved each year.
But primary care trusts aren’t interested in any of that,’ says Professor Humphries.
‘They are just trying to balance their books in the next 12 months.’
A spokesman for the Department of Health confirmed it would be looking at cascade screening for familial hypercholesterolaemia when developing its new Cardiovascular Disease Outcomes Strategy, due to be in effect by the winter of 2013.
Whether cascade screening makes it into the strategy remains to be seen, but whatever the Department of Health decides it will be too late, probably, for hundreds of people.
If you’re one of them you can hope that, like me, you get a warning shot across your bows.
On the other hand, you could always take control of your own fate.
Ask your GP for a cholesterol test for a start — especially if there is a history of heart disease and high cholesterol in the family.
Most GPs will do this if asked, and if you do find you are the one in 500 who’s suffering from familial hypercholesterolaemia, at least you can encourage family members to go and do the same.
My son, now with two sons of his own, has made an appointment.
This weekend, just 12 weeks after having my chest cracked open, I was back in Suffolk, running again along the banks of that idyllic, reed-fringed river, now bathed in long-overdue late spring sunshine.
It was, I reflected, one of those days when it really felt good to be alive.
But it was a close-run thing.