Families to get cholesterol tests

Families to get cholesterol tests
The UK is expected to endorse the screening of families for an inherited cholesterol disorder which increases the risk of heart disease.

Final guidance due next week is tipped to recommend that children of people with familial hypercholesterolaemia (FH) should be tested by the age of 10.

FH affects one in 500 people in the UK, or 110,000 people, yet only 20% of cases are currently diagnosed.

Siblings and children of people with FH have a 50% risk of inheriting it.

'Silent killer'

FH causes unusually high cholesterol levels from birth and often goes unnoticed until an individual's 30s or 40s when the first symptom could be a heart attack.

However, if identified, FH can be successfully controlled by diet, lifestyle and often using cholesterol-lowering statin drugs.

Two types of statin are already licensed for use in the UK in children with FH.

The National Institute for Health and Clinical Excellence (NICE) guidance is likely to call for the introduction of family screening or cascade testing.
This would mean that once a person is diagnosed, the rest of the family would also be screened as the likelihood is that one in two of them will have inherited the condition.

The screening would include cholesterol and DNA tests from blood samples to spot the specific genetic defect that causes FH.

Expert Dr Dermot Neely of the Royal Victoria Infirmary, Newcastle, for the cholesterol charity Heart UK, said: "We need to identify FH as early as possible to treat in childhood to prevent heart attacks in early adulthood.

"We have about 100,000 people with FH to find."

He said the screening was unlikely to be draining on public finances and, comparatively, would be much cheaper to run than some existing screening programmes.

Dr David Wald, a consultant cardiologist at Barts and the London Queen Mary's School of Medicine, welcomed cascade screening, but said it would not identify all cases of FH.

He believes all children should be screened for FH before their 10th birthday, irrespective of their family background.

The families of any children found to have the condition could then undergo screening in order to detect all potential cases of FH.

"We will be piloting this type of screening soon," he said.