New service launched to help families with inherited risk of heart disease

The Northern Health and Social Care Trust (NHSCT) has launched a new service to identify people at risk from a symptomless genetic disorder that increases a person’s chance of early heart disease and premature death.

Regionally about one in 500 people in Northern Ireland has Familial Hypercholesterolaemia (FH), an inherited condition that means their cholesterol levels are higher than normal from birth.

Familial Hypercholesterolaemia is caused by an abnormal gene and, despite it putting people at high risk of early heart disease, most of them don’t even know they have it. If left untreated, around 50% of males will develop heart disease by age 50 and approximately 30% of women by age 60.

This service has been developed to actively identify all known cases of FH in the Northern Trust and offer follow-up testing to immediate family members. To date 80 people have had their DNA tested. Five families have been identified as carrying the FH gene. In total 33 family members of these families were tested with 10 positive FH results.

Tracy McCullagh has witnessed first-hand the devastating effect that the condition can have on a family. Tracy, aged 34, was diagnosed with FH in the 1990s: “I was diagnosed with familial Hypercholesterolemia in 1997. I was sent for testing with my brother when we were teenagers after we lost our mum at the young age of 39 to a sudden heart attack.

“We found out that we both have the condition and it was genetic. As a result our children have all been tested too. My daughter also has FH, my two sons do not. My daughter will start medication when she becomes a teenager to get her cholesterol under control. I continue to take my statins every day and I will do so for the rest of my life. Thankfully they are controlling my cholesterol and keep it to a normal level.

The medical attention I have received to date has been excellent. My hope for the future would be that medical advancement would result in the control of high cholesterol caused by this rogue gene”.

Julie Donnelly, Specialist Nurse Familial Hypercholesterolemia for the Northern Trust said : “It is important to detect FH early as treatment is very effective at reducing cholesterol levels and thus decreasing the chance of developing cardiovascular disease.

My role is to approach families with FH and identify patients and relatives both adults and children who may benefit from screening. I provide information to them about the condition and the genetic inheritance, informing them of the treatment options available. These patients can be seen at clinic appointments or home visits where they will be offered genetic testing and lipid analysis”.

Andrew Dougal, Chief Executive of Northern Ireland Chest, Heart & Stroke, said: “NICHS is delighted that this service has been launched. We have been pressing for this development for some time and have contributed over £35,000 to enable the family follow-up testing service to be set up. This money from our supporters will mean that people with FH can be identified and treated as quickly as possible. Hundreds of lives will be improved and many lives saved across Northern Ireland as a result of their generosity.”

The service has been developed and funded through a partnership between the Northern Trust, Public Health Agency (PHA) and Northern Ireland Chest Heart and Stroke (NICHS).

Pictured below are Julie Donnelly, Specialist Nurse Familial Hypercholesterolemia for the Northern Trust and Tracy McCullagh.


2nd June 2015

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