Familial Hypercholesterolaemia (FH) is a genetic disorder - usually present from birth - which causes high levels of cholesterol in the blood. It's an inherited condition, which means that the gene causing it will have been passed on from one or both of your parents. If you or a member of your family is identified as having the FH gene, they also have a 50% chance of passing it on to their children. Left untreated, high levels of cholesterol can increase the risk of developing heart disease, or having a heart attack at a much younger age. 

Although there isn't a cure for FH, it can be treated successfully. 

Causes of FH

FH is caused by an abnormal gene. Our liver has special cells with receptors which helps to remove cholesterol, a type of fat, from the bloodstream. People with FH may have fewer receptors than people without the condition, and the receptors they do have don’t all work normally. This means that not enough cholesterol is removed from the body and so a build up occurs.

Although cholesterol is needed by the body it causes problems when too much accumulates – it can cause atherosclerosis that results in blood vessels narrowing, which can then lead to heart attacks. People with FH can have a cholesterol level which ranges anywhere from two to six times above normal and can develop heart disease 15-20 years earlier than the general population.

Although FH occurs in as many as one in 200-250 people, to date only around 18,000 of the estimated 270,000 with the condition have been diagnosed. This means that only seven per cent of people with FH know that they have the disorder.

We are one of the few centres that has a team of nurses to deal with the condition. Through regular screening clinics, they identify FH patients and provide them with information and advice to help maintain a healthy lifestyle and prevent problems in the future.

Find out more about:

  • genetic screening
  • your appointment
  • the benefits of screening

In the FH information section

Lipoprotein apheresis

Lipoprotein apheresis, sometimes called LDL apheresis, is a type of 'extracorporeal' (blood taken outside the body) procedure to remove low-density lipoprotein (LDL) cholesterol from the blood.

Genetic screening

If you have been invited for FH genetic screening, it means that your doctor - or other health professional - wants to check if you, or a close relative, have inherited the FH gene. Following a check on your cholesterol levels, family history, and clinical signs we can confirm whether you have the FH gene. Genetic testing also allows us to identify which gene may have caused your FH. 

Our nursing team runs genetic screening clinics for patients with suspected FH at Harefield and Royal Brompton hospitals, and outreach clinics at  Hillingdon Hospital and Cedar Brook Practice in Hayes. Since the condition runs in families, they 'cascade screen' for relatives affected by the gene.

Cascade screening

Cascade screening involves screening the closest members of the family before screening more distant relatives. This means that if we can identify one person with the gene, it usually means that we can identify more. 

Children from the age of four can be screened at the clinic. Once a patient has been diagnosed, the nursing team can provide lifestyle advice and treatment, which can help reduce their cholesterol levels and their risk of developing early heart disease.

Some patients can reduce their cholesterol levels by some 50 to 75 per cent with medication. If this treatment does not work, we offer is one of only ten centres in the UK that can offer lipoprotein apheresis.

Your appointment

Before your FH appointment

At your appointment, the nurse will ask about your family history so they can draw a family tree, so it would be useful if you could talk to family members (mother, father, aunt, cousin, etc.) beforehand. We'll need to know whether they, or any deceased relatives, have had a heart attack, stroke, cardiac surgery or raised cholesterol.  It is also useful to have a vague idea of their ages when any of these illnesses were first diagnosed.  Our FH form will help you record your findings. 

At your FH appointment

Your FH appointment will take about an hour and you will be seen by a clinical nurse specialist (CNS) in FH screening. During the appointment you will be given a full explanation of FH and given healthy diet and lifestyle advice. You won't need to fast for this test but you will need to have a small blood sample, for genetic screening analysis. 

The results, and how you receive them, will be explained to you but the overall process can take up to two months. 

If you are unable to make your appointment, please let us know in advance so we can offer it to someone who may also be waiting. 

FH screening benefits

If you're already receiving treatment for raised cholesterol, your genetic screening for FH shouldn't make a difference, unless it is decided that your new screening results should alter your treatment. 

If your FH genetic screening test result is positive, we can then identify and screen family members. This will enable them to receive the treatment and support they need.  Without the diagnosis, they may be at risk of developing heart disease or having a heart attack at a much younger age.  Starting treatment early, before coronary heart disease begins, can greatly reduce your risk of dying prematurely.

FH research

The work in identifying patients with FH initially formed part of a national study on DNA testing. The study, which was implemented by the Department of Health and led by Dr Mahmoud Barbir, consultant in preventative cardiology at Harefield Hospital, helped form the basis of the new National Institute for Health and Care Excellence (NICE) guidelines for the management of patients with FH 2008.

Familial hypercholesterolaemia is a treatable condition so it is an important area for preventative cardiology. The ideal would be to prevent any clinically evident coronary heart disease caused by undiagnosed and untreated FH.

Meet the team

Consultants

Dr Mahmoud Barbir - consultant cardiologist

Nurses

Jane Breen - lead clinical nurse specialist
Emma Neves - clinical nurse specialist
Lorraine Priestley-Barnham - clinical nurse specialist
Laura Davis - clinical nurse specialist
Charis Browne - clinical nurse specialist

On Heart UK's website, you will find useful information and films about FH that are aimed at children . 

You will also find information about who is at risk of FH and how it is inherited.

Information and support

If you can't attend your appointment, or have any questions about FH or how we can help, contact us on: 01895 823737 ext. 85084 or 0330 128 3737 ext 85084

Useful documents

FH genetic screening referral form (pdf, 77KB)

Family medical history checklist (pdf, 265.6KB)


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