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National screening scheme agreed for familial hypercholesterolaemia

The National Screening Committee is to recommend screening all first-degree relatives of familial hypercholesterolaemia sufferers after a Government-funded study found it to be the most cost-effective way to cut deaths from the disease.

Following the NSC-commissioned research, familial hypercholesterolaemia screening will feature strongly in the Government's combined diabetes and vascular screening pilots set for launch next month in nine deprived areas of England.

GPs will be involved in the pilots and are expected to be central to a national screening programme.

Screening of first-degree relatives of all diagnosed familial hypercholesterolaemia patients would result in 13,248 new diagnoses and avert 560 deaths due to the disease over a 10-year period, with a cost per case identified and treated of £3,505, according to researchers at the University of London school of hygiene and tropical medicine. In comparison, screening all 16-year-olds would result in 470 new diagnoses and avert 12 deaths at a cost of £13,141 per case.

Calculations were made using a national familial hyper-cholesterolaemia register.

National screening committee programme director Dr Muir Gray told Pulse: 'We're not talking about screening the whole population. But if a patient is under the age of 50 and has a heart attack then alarm bells should be ringing and relatives should be offered testing.'

Screening under any national roll-out would be via hospital outreach services with GPs playing a central role in identifying patients who needed screening. Any GP payments would be locally negotiated, he added.

Study lead Dalya Marks said screening first-degree relatives would also prevent around 1,500 non-fatal coronary events over 10 years.

Dr Mike Kirby, a member of the joint British Societies guidelines group for CHD risk, said GPs were best placed to screen for the condition.

Dr Kirby, a GP in Letchworth, Hertfordshire, said: 'Because patients with familial hypercholesterolaemia tend to be known to us in middle age when they get ill, there is an opportunity to screen their offspring when young.'

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