Contact HEART UK

HEART UK - The Cholesterol Charity
7 North Road

T. 0345 450 5988

Normal Helpline hours: Monday - Friday from 10am to 3pm
Dietetic advice available in Punjabi, Urdu and Hindi on Fridays

We need your help to deliver a future with no premature deaths from high cholesterol. Please donate to help us reach this goal.

FH medway report
Finding FH in GP practices Medway

80-90% of Familial Hypercholesterolemia​ (FH) cases remain undiagnosed. Two simple interventions improved diagnosis of genetic inherited high cholesterol in one CCG. Could your CCG establish a similar Familial Hypercholesterolemia programme? 

Familial Hypercholesterolaemia Sanofi Booklet
Inherited Cholesterol Guide

Download our easy to read pictorial guide to Familial Hypercholesterolemia. Find out more about inherited high cholesterol.  

Inherited cholesterol facts
  • People with familial hypercholesterolemia (FH) are at greater risk of heart disease
  • 1 in 250 people in the UK are believed to have FH 
  • Over 260,000 people in the UK may have FH, with fewer than 10% diagnosed
  • 56,000 children in the UK may have FH but only 600 of these are known

Genetic testing for Familial Hypercholesterolaemia (FH)

Familial Hypercholesterolaemia (FH) is caused by a gene alteration.  A gene is a DNA code which provides instructions to make special proteins in the body.  In the case of Familial Hypercholesterolaemia, the genes affected are involved in controlling the amount of cholesterol in the blood. You can find out more about how high cholesterol levels are genetically inherited here.

If you have FH it is likely that you have an alteration in one of three key genes:

  • The LDL receptor gene – this gene makes a protein that helps remove cholesterol from your blood. It is the most common gene alteration in people with Familial Hypercholesterolaemia
  • The APOB gene – this gene makes a protein that helps hold cholesterol carrying lipoproteins together in your blood. An alteration in this gene makes it more difficult for the LDL receptors on liver cells to bind with this protein and remove LDL cholesterol from your blood. Two to three people in every hundred people with Familial Hypercholesterolaemia have this problem
  • The PCSK9 gene – this gene makes an enzyme that controls the breakdown of the proteins in the LDL receptors of liver cells which remove cholesterol. If this gene is altered it means that there are fewer receptors on the surface of liver cells to pick up excess cholesterol from the blood. Only a small number of people have this kind of Familial Hypercholesterolaemia.

The benefits of having a genetic test for Familial Hypercholesterolaemia 

A genetic test can tell you which altered gene, and which type of FH, you have.  It can help your doctor to ensure you have the right treatment for Familial Hypercholesterolaemia and it can also help find other family members who have the same condition.

A gene alteration can usually be identified in about three out of every four people with FH.  If you have the test and a gene alteration is found – your specialist will be able to tell you more about how this type of FH affects your cholesterol level.   

If you have a positive genetic test your doctor may ask for your help in identifying other close members of your family with FH.   This is called cascade testing.  Most people with FH will have at least two other affected first degree relatives (brother, sister, parent or child).

What if an altered gene is not found?

  • If your doctor thinks you have FH but your genetic test does not confirm this, it does not mean that you do not have FH.  It just means that the doctors have not been able to find a known gene alteration.
  • If an altered gene has already been found in a close family member and you are invited for cascade screening, this altered gene may not be found in you.  This means that you have not inherited this form of FH and cannot pass it onto any children you may have.  However if you have high cholesterol you may still need treatment to lower it.

Can I get a genetic test easily?

Genetic testing can be expensive and it is not widely available across the UK.  Speak to your doctor to find out if there is a programme of genetic testing available in your area.  

Are there any disadvantages of having a genetic test?

Some people do have concerns about having a genetic test and how this might affect how they are treated when applying for a specific job, life or travel insurance or a mortgage.

HEART UK have been working with insurance companies to make them aware of the differences between having FH and having cardiovascular disease.  People with FH, who's condition is properly treated and managed, can live a perfectly normal lifespan.

If concerned, talk to your specialist about getting a letter about your condition and how it is managed and use this to support your insurance, mortgage or job application.  You can also talk to a genetic counsellor about having a genetic test and what this might mean for you and your family.

Further information on inherited genetic high cholesterol

We answer your frequently asked questions about Familial Hypercholesterolaemia (FH) here.

Helpline Module

Lines open Mon-Fri 10am-3pm
Punjabi, Urdu & Hindi spoken on Tuesdays

Calls to our 0345 helpline costs no more than calls to geographic (01 and 02) numbers and must be included in inclusive minutes on mobile phones and discount schemes. Calls from landlines are typically charged between 2p and 10p per minute while calls from mobiles typically cost between 10p and 40p per minute. Calls from landlines and mobiles to 0345 numbers are included in free call packages. 

Your stories

Read about someone who has experienced the difficulties of living with FH on a daily basis.

Lisa talks to Colin Jackson

Click here to listen to Colin Jackson, CBE, interviewing Lisa Wright.

Staying healthy

Eating a healthy diet, not smoking and being physically active are important in helping to keep your cholesterol and other blood fats low.