Audlem family in national newspaper

As usual, Martin Keighley had changed into his trainers as soon as he'd arrived back from work, then headed out to pound the country lanes.

'I'd been running at least twice a week for a few years,' says Martin, the chief executive of a water technology company. A non-smoker, he ate healthily and was keen to stay fit.
Although he felt 'absolutely fine' when he set off, after a while he felt very dizzy. 'I presumed I was overdoing it, and sat down on the wall of a house to catch my breath.'

Then the fit, healthy 33-year-old keeled over with a heart attack. It was sheer luck that he survived. 'Had my GP not been out walking his dog and spotted me in trouble, I think I'd be brain damaged or dead now,' he says.

'He and a neighbour performed cardiopulmonary resuscitation (CPR) for 20 minutes until an ambulance arrived.'

Hospital tests revealed three of Martin's arteries were severely blocked and he had a cholesterol reading of 10.8 (a healthy reading is below 5). He was diagnosed with familial hypercholesterolaemia (FH), an inherited condition where the body cannot clear 'bad' LDL cholesterol from the blood.

His arteries were so clogged that he needed a triple heart bypass -- where blood vessels are taken from elsewhere in the body, usually the chest and legs, and used to create a new route for the blood to flow around the blockages.

An estimated 100,000 people in Britain are living with FH but don't know it, according to a report published last week by the Royal College of Physicians. The condition could kill them at any moment.

Since Martin's heart attack, the rest of his family have been tested for FH. His 16-year-old daughter Megan, brother and 11-year-old niece have all been diagnosed with it. His 14-year-old son Daniel doesn't appear to have inherited the condition, though further tests are needed to confirm this, and his ten-year-old daughter Hannah is due to be tested soon.

Martin now believes FH was to blame for his father's heart attack at 32, and the subsequent attack that went on to kill him in his early 50s. 'Looking back, I also remember aunts and uncles who had heart problems or who died from heart disease,' he says.

So how could an apparently healthy man have such dangerous levels of cholesterol? Cholesterol is a waxy substance produced by the liver from the saturated fat we eat. It plays a vital role in the function of cells and production of hormones and vitamin D. Once it has done its job in the body, it's also the liver's job to remove it. In healthy people, this happens automatically.

'The liver has "finger receptors" that reach out and grab hold of "bad" LDL cholesterol particles as they pass,' says Professor Steve Humphries, the new report's author and director of the Centre for Cardiovascular Genetics at University College London.

'Good' HDL cholesterol travels to the arteries to help unblock them before it also goes back to the liver to be removed by another set of receptors. 'Once inside the liver, the cholesterol gets broken down, sent to the intestines and is then passed out of the body,' says Professor Humphries.

'But in people with FH, these receptors don't work properly, so the cholesterol builds up in the blood.' (With the more common form of high cholesterol, the problem is that the patient has too much LDL for the receptors to cope with.)

Over time, cholesterol deposits build up in the arteries, restricting blood flow to the heart and increasing the risk of heart attacks and strokes. By the age of 55, if left untreated, half of men with FH will have developed heart disease, while a third of women with it will develop heart disease by 60.

While most FH sufferers have heart attacks in their 50s and 60s, some, such as Martin, can be affected in their 30s and 40s -- with no warning signs. This is why early diagnosis is crucial, explains Dr Jonathan Morrell, of the cholesterol charity Heart UK.

'If someone knows they are at risk, they can make changes to their lifestyle and, importantly, start taking statins to lower their cholesterol,' he says. 'If you adopt these measures before you have a heart attack, your risk of dying reduces to that of the general population. You can remove the risks of the genetic disorder totally.'

Today, aged 46, Martin's cholesterol is 3.7, thanks to statins. He exercises regularly and avoids eating too much saturated fat.

Diagnosis is crucial to the patient's family, too. Any child of an FH sufferer has a 50 per cent chance of inheriting the disease. Once one family member is identified as having it, on average another five will be diagnosed.

One of the biggest hurdles is getting people to think about their family tree. 'I often hear people saying their father died from a heart attack at 56,' says Professor Humphries. 'If he didn't smoke heavily and have a poor lifestyle, there's every chance this could have been due to FH.
'Any coronary event that occurs before the age of 60 should prompt the patient's relatives to ask their GP for a cholesterol check.'

Any child of an FH sufferer has a 50 per cent chance of inheriting the disease. Once one family member is identified as having it, on average another five will be diagnosed.

However, not all GPs are clued up about the condition, as father-of-two Joe Hall discovered.
After undiagnosed FH caused him to have a heart attack at 24, he was anxious to have his son and daughter's cholesterol levels checked -- and was astounded when his GP told him there was no need.

'I couldn't believe what I was hearing,' says Joe, 45, MD of a bakery chain in Lancashire.
'I had to make an official complaint and ask to see another GP, who, thankfully, knew more about FH and agreed to the blood tests.'

Joe's son was diagnosed with the condition, aged 15. His daughter's test was clear.
Dr Morrell agrees that a lack of awareness among GPs is part of the problem. 'Many people with FH may look healthy and slim, and will be categorised as low risk. But they've had high cholesterol from before they were born.'

Heart UK advises that children of people with the condition should be tested by the time they are ten. A cholesterol test is not, however, foolproof, as the results can be misleading. A reading of 7.5 is usually the lowest someone with FH will have.

But with any reading over five considered 'high', it can be difficult for doctors to distinguish between a non-FH patient with a high reading and an FH patient with a low reading. Because of this, experts are calling for genetic testing to be more widely available.

Scientists have identified three genes that can mutate to cause FH -- and a simple blood test can screen for these with far greater accuracy than cholesterol levels. But at around £500 a test, parts of the NHS are reluctant to fund it.

Since genetic testing for FH was approved in 2008 by the National Institute for Health and Clinical Excellence (NICE), patients in Wales, Scotland and Northern Ireland have all benefited. But there is no funding in England for the testing service.

Heart UK and the British Heart Foundation argue that 'cascade testing' in families is more cost effective. Here, once a mutation has been found in one family member, doctors can test for that same anomaly in other members -- bringing the cost down to £50.