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Cholesterol family tests planned Cholesterol family tests planned
(about 1 hour later)
A screening programme is expected to be rolled out across Wales to identify people at risk of early heart attacks.A screening programme is expected to be rolled out across Wales to identify people at risk of early heart attacks.
Familial hypercholesterolaemia - or FH - is a genetic condition which causes high levels of cholesterol, leading to heart attacks in young adults.Familial hypercholesterolaemia - or FH - is a genetic condition which causes high levels of cholesterol, leading to heart attacks in young adults.
It is estimated around 5,000 people in Wales unknowingly have the condition.It is estimated around 5,000 people in Wales unknowingly have the condition.
The assembly government is working towards developing a testing programme for people who find out a member of their family has FH.The assembly government is working towards developing a testing programme for people who find out a member of their family has FH.
Lifestyle changes and medication can then help prevent heart disease.Lifestyle changes and medication can then help prevent heart disease.
Dr Alan Rees, a consultant specialising in the area, said it was "a systematic failure of the NHS" across the UK that the condition was not being diagnosed in the majority of sufferers.Dr Alan Rees, a consultant specialising in the area, said it was "a systematic failure of the NHS" across the UK that the condition was not being diagnosed in the majority of sufferers.
Consultant biochemist Dr Ian McDowall explains how the screening process works.
"We know that there's a gene frequency of one in 500 - we know there should be 6,000 people in Wales with FH and we have diagnosed about 1,000 so that means about 80% of the people with FH in Wales are walking around oblivious of the fact they have got this diagnosis," he said."We know that there's a gene frequency of one in 500 - we know there should be 6,000 people in Wales with FH and we have diagnosed about 1,000 so that means about 80% of the people with FH in Wales are walking around oblivious of the fact they have got this diagnosis," he said.
"And what happens is they drop dead or have very early heart attacks with catastrophic effects on their family."And what happens is they drop dead or have very early heart attacks with catastrophic effects on their family.
"We also know that if we diagnose this early we can prevent the consequences, we can prevent the heart disease.""We also know that if we diagnose this early we can prevent the consequences, we can prevent the heart disease."
He added: "I'm glad to say that the minister of health Edwina Hart has announced that she's going to support the project of what we call cascade screening to identify those hitherto unidentified patients in Wales and to treat them early.He added: "I'm glad to say that the minister of health Edwina Hart has announced that she's going to support the project of what we call cascade screening to identify those hitherto unidentified patients in Wales and to treat them early.
"And I do believe that therefore Wales will be ahead of the game.""And I do believe that therefore Wales will be ahead of the game."
Immediate family members have had heart attacks in the past... and that's why we decided to have our children tested Elin EvansImmediate family members have had heart attacks in the past... and that's why we decided to have our children tested Elin Evans
The assembly government's lead cardiac adviser, Dr Phil Thomas, has been working with cardiac specialists to develop a model for implementing testing for FH in Wales.The assembly government's lead cardiac adviser, Dr Phil Thomas, has been working with cardiac specialists to develop a model for implementing testing for FH in Wales.
The model proposes a family cascade system, which means doctors who test someone with high cholesterol or heart disease and discover they have FH can then test other members of their family, both young and old.The model proposes a family cascade system, which means doctors who test someone with high cholesterol or heart disease and discover they have FH can then test other members of their family, both young and old.
Elin Evans, whose daughter Heledd, 10, has been diagnosed with FH, said she would encourage others with a family history of cholesterol and heart disease to have tests.Elin Evans, whose daughter Heledd, 10, has been diagnosed with FH, said she would encourage others with a family history of cholesterol and heart disease to have tests.
"Immediate family members have had heart attacks in the past. We both [her and her husband] had high cholesterol and a close member of the family died at a young age with a heart attack," she said."Immediate family members have had heart attacks in the past. We both [her and her husband] had high cholesterol and a close member of the family died at a young age with a heart attack," she said.
"And that's why we decided to have our children tested and one of the children, Heledd, came back with a very high level of cholesterol in her blood."And that's why we decided to have our children tested and one of the children, Heledd, came back with a very high level of cholesterol in her blood.
"She's remarkably well and healthy and hopefully now in the new year she will be starting on statins [drugs which lower cholesterol].""She's remarkably well and healthy and hopefully now in the new year she will be starting on statins [drugs which lower cholesterol]."
Heledd added: "I eat healthy and keep fit by playing football, rugby and swimming."Heledd added: "I eat healthy and keep fit by playing football, rugby and swimming."
A spokesman for the assembly government said it had submitted a bid for the family cascade testing model to the British Heart Foundation (BHF) for consideration.A spokesman for the assembly government said it had submitted a bid for the family cascade testing model to the British Heart Foundation (BHF) for consideration.
"The health minister, Edwina Hart, has given a commitment that the Welsh Assembly Government would work with the BHF to help fund the setting up and long term costs of a FH service in Wales and she welcomes the opportunity to work in partnership," he said."The health minister, Edwina Hart, has given a commitment that the Welsh Assembly Government would work with the BHF to help fund the setting up and long term costs of a FH service in Wales and she welcomes the opportunity to work in partnership," he said.