Research suggests that screening children for the inherited genetic disorder familial hypercholesterolaemia (FH) could prevent unnecessary deaths.
The research, from Queen Mary University of London (QMUL), found that of more than 10,000 children who were tested for FH genetic mutations and high cholesterol, 40 children were identified to be FH positive.
Once an FH positive child was found, the parents were contacted for screening, which led to an additional parent being diagnosed with FH in each case.
People with FH have higher levels of cholesterol in their blood and are subsequently at higher risk of suffering a potentially deadly heart attack or stroke at a young age. However, with early detection, people with FH can manage the condition with medication and lead a normal life.
From bench to bedside
Our research led to the development of the test for FH. We have since funded ‘cascade testing centres’ in Wales and England where high risk family members can have a simple blood test to determine if they have the condition. However its rollout across the NHS has been slow.
What we think
Our Medical Director, Professor Sir Nilesh Samani, said:
"The majority of people living with familial hypercholesterolaemia are still undiagnosed, putting them at higher risk of suffering a deadly heart attack or stroke before they reach 50.
“Early diagnosis in children is likely to substantially improve treatment of their condition and will help find other family members with FH. But before nationwide screening is adopted by the NHS more work needs to be done to show it’s a cost-effective way for picking up individuals with FH which will be acceptable to families.
“Current NICE guidance recommends that the most effective screening model is for family members of those diagnosed with FH to be tested, based on BHF-funded research showing the life saving potential and cost effectiveness of running this type of cascade testing programme.
“However, rollout across the NHS has been slow, meaning people are missing out on treatment to lower their risk of an early heart attack or stroke. Before any future change in practice based on this new research, the widespread rollout of the current cascade testing programme is vital if we’re to prevent people unnecessarily dying from FH”.
Following thirty years of our research to find the genes responsible for FH, national guidelines were introduced in 2008 recommending family members of FH patients should be offered genetic testing.
Suzanne Sheppard, found out she had FH after her dad died from a heart attack aged just 41. “When I found out I had FH there was a certain sense of relief to know why my cholesterol was so high. Now my son will be screened and if he does have FH it will be identified at a young age and he will receive the same level of care and treatment that I have received."
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