27 January 2011
The addition of a new family clinic for familial hypercholesterolaemia (FH) makes Harefield Hospital the only cardiac centre in England running a comprehensive service for this condition.
FH is an inherited disorder resulting in very high levels of cholesterol. If left untreated approximately 50% of men and 30% of women with FH will develop premature coronary heart disease (CHD), which may result in angina, myocardial infarction or sudden death.
Dr Mahmoud Barbir, consultant cardiologist and FH specialist at Harefield Hospital said, "Familial hypercholesterolaemia is one of the most common monogenic inherited conditions in clinical practice. There are an estimated 120,000 people in the UK with this disorder but only around 18,000 are known to the NHS.
"Our clinics help us to identify more people who are affected, and the new family clinic is focused on allowing us to take preventative action for children, including education and treatment, so that they are less likely to develop heart disease as adults."
According to a recent audit by the Royal College of Physicians, FH services across England need major improvements. The audit found that "very few families were being systematically genetically screened, and there were not enough facilities for diagnosing and treating children with FH in the right care settings". The clinics run by Dr Barbir and his team clearly put Harefield Hospital at the forefront of diagnosis and treatment of this condition.
Regular FH clinics
Dr Barbir has been running coronary prevention clinics at Harefield since 1993 including patients with suspected and confirmed FH. He and his team were involved in the Department of Health’s cascade audit project and the pilot audit of the national management of familial hypercholesterolaemia 2010.
There are also twice-weekly FH genetic screening clinics run by cascade nurse specialist, Jane Breen. Cascade screening identifies affected relatives of patients with FH, starting initially with first degree relatives, then progressing throughout the family. The team at Harefield has dealt with a number of families where familial hypercholesterolaemia spans three generations.
Seeing children in the right environment
Genetic screening for children, in the form of a blood test, has always taken place in paediatrics outpatients, but now the entire clinic, be it initial or follow-up appointment takes place there. Other family members attend at the same time creating a family clinic for a disorder that often affects several family members.
Jane Breen said, "It is far better for us to see an entire family in children’s outpatients where the environment is designed to be safe and friendly. It’s clearly better for the children to be in the right care setting but it’s much nicer for their parents or siblings too, and it’s important for them all to be together."
Treating and educating entire families
Dr Barbir has treated patients as young as four years, but children are generally aged between eight and 16, with most identified through genetic cascade screening. Once all children in the family have turned 16, the family attends the adult FH clinics with Dr Barbir in Harefield’s main outpatients department.
The identification and subsequent treatment of familial hypercholesterolaemia in children, usually with statins, helps to reduce the likelihood of them developing heart disease in later life.
Maintaining a healthy lifestyle alongside this regular treatment further reduces the potential, and educating families about the risks and how to reduce them is part of the FH service Harefield Hospital provides at these regular clinics.
LDL apheresis
Most patients respond well to statins, but in cases of statin resistance or intolerance, LDL apheresis, whereby harmful LDL cholesterol is removed from the bloodstream, is an option and Harefield is one of only five centres in the UK providing this treatment.
