A Doncaster dad is 20 times more likely to have heart disease because of a faulty gene.
Now James Methley, aged 44, of Highfields, is thanking a team of nurses for giving him a crucial diagnosis.
James 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.
It was detected by the familial hypercholesterolemia clinic at the Northern General Hospital in Sheffield after his mother was diagnosed with the condition.
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 but most 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.
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.
He said: “I’m just glad that the condition has been diagnosed so that remedial steps can be taken to contain and control the condition to keep it from being life-threatening.”
According to the British Heart Foundation 85 per cent of people with FH are thought to be undiagnosed.