Harefield Hospital’s unique service for inherited heart risk

Heart health

Harefield Hospital provides a specialised screening service for a genetic heart disorder called familial hypercholesterolaemia (FH).

Familial hypercholesterolaemia (FH), which affects an estimated 120,000 people in the UK, can cause early heart disease and lead to premature death. While symptoms may be picked up during a routine health check, the most prominent sign of the disease is fatty lumps on the skin or around the eyes, as well as the more obvious sign of close family members having the condition.

Our trust is unusual in employing a cascade nurse specialist, Jane Breen, to deal with the condition. Through regular screening clinics, Jane identifies FH patients and provides them with information and advice to help maintain a healthy lifestyle and prevent problems in the future. DNA testing is carried out from either blood or saliva samples and results are received in four to eight weeks.

To date, 681 people have been screened at Harefield Hospital, of which 211 have been found to have familial hypercholesterolaemia; 119 of these people were the index patient and the remainder were family members. The age range of the patients found to have FH is four to 81, with 67 patients aged under 30 and 101 patients aged less than 40 years old.

“Cascade screening is where you screen the closest members of the family first, working your way out to more distant relatives,” Jane explains. “Identifying one person with the gene generally results in identifying more.”

To our knowledge, Harefield Hospital is the only centre in England that is able to offer a complete service for patients with FH, ranging from cascade testing, through to treatment follow-up and lipoprotein apheresis therapy.

Being a genetic disorder, familial hypercholesterolaemia is not caused by an unhealthy lifestyle. However, keeping yourself in the best physical condition will help to prevent future problems, and cholesterol medication may be an option.

Dr Mahmoud Barbir, consultant cardiologist; and Alison Pottle, nurse consultant in cardiology, work with Jane Breen to test and treat FH patients at Harefield Hospital.

“Familial hypercholesterolaemia is a treatable condition”, explains Jane, “thus it’s an important area for preventative cardiology. The ideal would be to prevent any clinically evident coronary heart disease caused by undiagnosed and untreated FH.”

Royal Brompton & Harefield Hospitals Specialist Care offers a genetic diagnostic test for patients with suspected familiar hypercholesterolaemia (FH).

If you are concerned about you or your family’s risk of FH, for more information or to book an appointment, call Private Patients on +44 (0)20 3131 8538 or email privatepatients@rbht.nhs.uk


Dr Mahmoud Barbir

Consultant cardiologist




Alison Pottle

Nurse consultant in cardiology