Phil Gets to the Heart of a Ticking Timebomb ; FH Sufferer Working With Institute to Develop Testing for Genetic Defect That Causes People’s Arteries to Clog
By Andrew Dagnell
A PENARTH man has helped health chiefs develop guidance which could prevent people dying early of a heart attack.
Phil Rowlands, 58, has worked with experts from the National Institute for Clinical Excellence (Nice) to develop testing for a genetic defect that causes people’s arteries to clog more quickly.
The condition causes the narrowing of the arteries to speed up, putting people at higher risk of heart attacks.
If untreated the condition, familial hypercholesterolaemia (FH), results in half of male sufferers having a heart attack by the age of 50. A third of women with the condition will have one by the age of 60.
Experts now hope the new testing regime will identify people with FH so that they can receive medication to control it.
Around 15,000 people in the UK are known to have the condition but health experts think around 95,000 more people are undiagnosed.
Mr Rowlands’ own father Walter died at the age of 51, when he was just 12.
He said: “I certainly don’t want any other child to go through what I went through.
“Thewaycascade testingworks, this should not happen.
“With FH, you inherit the high cholesterol, you don’t inherit the heart attack.
“I don’t want people to think that it’s a condition that can only effect older people. This condition starts from birth because it’s inherited.”
Mr Rowlands, a company director, was diagnosed with FH around 14 years ago.
He said: “I know that by taking the medication, exercising regularly, eating and drinking sensibly, not smoking and attending annual check-ups, my prognosis is excellent.
“I was given the chance to take control of my life, unlike my father.
“I would strongly encourage anyone with a family history of early death fromaheart attack, or heart disease, to have their cholesterol levels tested.
“This would significantly lower the risk of serious illness or death from heart disease.”
As a result of the guidance relatives of heart disease victims will be asked about family history, including the age at which relatives developed heart disease, and whether they or their relatives have smoked.
Dr Gillian Leng, deputy chief executive at Nice and executive lead for the guidance, said: “Familial hypercholesterolaemia is a serious, often undiagnosed but relatively common condition which, if treated early, will not affect normal life expectancy for the majority of people with the condition.
“This guideline will improve healthcare professionals’ understanding of inherited high cholesterol and encourage them to actively ask people about their family history of cardiovascular disease so that all individuals with the condition are identified.
“By offering treatment as soon as possible, unnecessary and untimely deaths will be prevented.”
Professor Steve Humphries, professor of cardiovascular genetics and a member of the guideline development group, said: “Whilst this guideline recommends individuals are offered a genetic test to confirm the diagnosis and help trace other family members, the decision on whether to go through with this test should be taken by the individual, based upon receiving the best available information from their doctor.”
Professor Peter Weissberg, medical director at the British Heart Foundation (BHF), welcomed the new guidelines.
He said: “We welcome this guideline which focuses on offering cascade screening to the families of those who are known to be affected by FH.
“Coupled with other screening programmes, it should help identify a large proportion of people with this inherited condition.”
Warning as Government gives go-ahead for sight-saving medicine
CAMPAIGNERS are celebrating after it was announced thousands of people with a devastating eye disease will get access to a sight- saving drug.
But a woman affected by the disease has warned that any delay in treatment could mean hundreds of people losing their sight.
Today, the Department of Health announced all patients in England suffering from wet age-related macular degeneration, which causes blindness, are to get access to a sight-saving drug.
Earlier this year, Health Minister Edwina Hart announced pounds 5m in funding for treatment using the medicine Lucentis, after the Echo highlighted the case of Eileen Younghusband, 86, a World War II veteran from Sully who was diagnosed with AMD.
The former WAAF and retired hotelier, pictured, was forced to use her pounds 12,000 savings to pay for private treatment.
She said: “It is good news but not for people who are diagnosed with it today as some people may not get this treatment for another three months.
“In Wales Edwina Hart said she would give the funding in the autumn, which is from September 22 to December. If she waits until the end of that period then a lot of patients could lose their sight because it is so aggressive.
NICE could also delay this, so I think it is a bit of a muddle.”
The Royal National Institute of the Blind Cymru has claimed up to 1,300 people a year in Wales develop the condition.
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