Doncaster dad diagnosed with genetic heart condition thanks specialist Sheffield clinic

James at Northern Generals familial hypercholesterolemia clinic
James at Northern Generals familial hypercholesterolemia clinic

A Doncaster dad-of-four who is 20 times more likely to have heart disease because of a faulty gene is thanking a team of nurses in Sheffield for giving him a crucial diagnosis.

James Methley, aged 44, of Highfields, was told he had familial hypercholesterolemia, a common but rarely diagnosed genetic heart condition which causes abnormal levels of cholesterol in the blood from birth.

The diagnosis means this could prevent his family from developing serious heart problems in the future.

Part of a £1million UK-wide genetic testing programme led by the British Heart Foundation, the clinic provides screening for the faulty gene that causes FH via a simple DNA blood test.

If left untreated, FH can shorten life expectancy by 20 to 30 years yet the vast majority of people carrying the faulty gene are never diagnosed, putting them at a significantly higher risk of heart disease, including a heart attack.

“My cholesterol levels were ludicrously high, but I didn’t know anything about it,” said James who attended the Northern General’s familial hypercholesterolemia clinic – one of only a handful in the country – after his mother was diagnosed with the condition.

During the clinic a picture of the patient’s family history of heart disease is built up to see if there are any generational clues that could suggest they carry the altered gene. If this is the case, they are offered a simple DNA blood test to confirm diagnosis.

Once an individual is found to have the faulty gene, family members are offered testing. Typically half of their brothers and sisters and half of their children will carry the inherited condition. In James’ case some family members, including one of his cousins, nephew and niece, were also found to carry the gene.

“I’m just glad that the condition has been diagnosed so that remediative steps can be taken to contain and control the condition to keep it from being life-threatening. I’m more health conscious now, I exercise and go to the gym. I would recommend the service to anyone. It is quick and painless, could prolong life, and is run extremely well,” James added.

Professor Nigel Wheeldon, Consultant Cardiologist at Sheffield Teaching Hospitals, said: “Familial hypercholesterolemia increases the risk of premature heart attack and other vascular disease. Patients will not be aware of the condition until vascular problems occur, which is late in the process. Yet these problems are largely preventable with good treatment, and we can use genetic testing to screen families of affected patients.

"We need to do all we can to identify such individuals. Through this pioneering service we have been able to provide vital diagnoses to patients like James and his family.”

Sister Alison Moore, a British Heart Foundation Familial Hypercholesterolemia nurse specialist at Sheffield Teaching Hospitals said: “Through this quick test we are able to identify patients who have inherited high cholesterol and provide essential treatment to them and their family members.

"There’s a pre-conception that high cholesterol develops as a result of diet and lifestyle factors, but this is simply not the case with familial hypercholesterolemia.

"We’d urge anyone whose family members have a history of heart disease to talk to their GP about being referred to our clinic as once appropriate interventions are given, the life expectancy of people carrying the altered gene goes up to match that of the general population.”

According to the British Heart Foundation 85% of people with FH are thought to be undiagnosed.