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‘Urgent need’ to establish screening service for those with familial hypercholesterolaemia

Dr Vincent Maher, Consultant Cardiologist, Tallaght Hospital, Dublin, told delegates that there could be up to 30,000 people with the condition — which is a genetic disorder characterised by high cholesterol levels, specifically very high levels of low-density lipoprotein in the blood — in Ireland.

Dr Maher said discussions are currently taking place about establishing a screening programme for the condition in the Republic, along the lines of the one in Northern Ireland.

“I think the preferred method is what is called ‘cascade screening’, where you identify a relative and identify the individual and go and identify the relatives who might have the condition,” Dr Maher told the Medical Independent (MI).

“The problem is, when you have identified all of these patients, where do they go? The amount of available specialised lipid clinics in the country isn’t adequate. If we took it that between 12,000 and 30,000 people on the island have this disorder, we don’t have the wherewithal to cope with that at this point in time. So we would require more and more training in primary care, filtering down those patients who have become complex, so we could shift them towards specialised centres, and then having the facilities in the specialised centre to look at the more complex and challenging cases.”

Dr Maher said funding would need to be raised to establish the network and the establishment of a specialist lipid centre would cost in the region of €200,000.

“Then you need the laboratory costs beyond that,” he said.

“I think seeing this group of people until they are very late in their disease process — when they have actually had a heart attack — that is a problem and it will continue to be a problem unless we establish this network, so I think it is a good investment up-front.”

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