Familial hypercholesterolaemia

Familial hypercholesterolaemia explained

What is familial hypercholesterolaemia (FH)?

FH is caused by a “variation” or “change” in 1 of your genes making your liver less able to remove excess “bad” cholesterol, known as LDL. This means the LDL level in your blood can get too high.

FH is a common inherited condition that affects about 1 in every 250 people. It’s estimated that around 270,000 people in the UK have it, but many do not know they have it.

If 1 of your parents has FH, there’s a 50 per cent (1 in 2) chance that you could inherit the same gene variant that can cause the condition. If you have FH, there’s also a 50 per cent (1 in 2) chance that you could pass it on to any of your children.

Why is having high cholesterol bad for you?

Having high cholesterol causes a gradual build-up of fatty material in your arteries (known as atheroma).

This increases your risk of developing coronary heart disease or having a heart attack or stroke.

If you have FH, your risk of this happening is higher and it’s more likely to happen at a younger age.

Signs and symptoms

What are the signs and symptoms of familial hypercholesterolaemia (FH)?

Signs and symptoms of FH include:

• Tendon xanthomata. Lumps and bumps around your knuckles, knees or the back of your ankle (Achilles tendon).
• Corneal arcus. A pale white ring around the coloured part of your eye (iris).
• Xanthelasmas. Small yellow lumps or patches on the skin around your eye or on your eyelid.

Your doctor may suspect FH if:

• A routine blood test shows you have a high cholesterol level.
• You have a heart attack or stroke, especially if it happens at a younger age.
• Other members of your family have a history of heart disease or stroke at a younger age.
• Other members of your family have been diagnosed with FH.

Diagnosis

How is familial hypercholesterolaemia (FH) diagnosed?

The first step to finding out whether you have FH is to visit your GP or nurse to have your cholesterol checked. This is done by a simple blood test. They will also ask whether you have a family history of high cholesterol or heart conditions.

If your results come back high, or if they notice some of the signs of FH, they may use a special guide (such as the Simon Broome Criteria) to help them make a diagnosis. They may refer you to a specialist for an assessment, which is likely to include genetic testing.

Genetic testing looks at your DNA to see if you have a genetic variation which can cause FH. This test may be:

• a blood sample
• a mouth swab, from the inside of your cheek.

Your sample will be sent to a laboratory and looked at in detail. 

If you’re diagnosed with FH, your parents, siblings and children (first-degree relatives) should also be tested as soon as possible. If one of your first-degree relatives has FH, you should get tested as well.

It’s understandable to be concerned if you are diagnosed with FH, but if it’s treated you can expect to live a normal, healthy life.

Treatment

How is familial hypercholesterolaemia (FH) treated?

There is no cure for FH, but it can be managed. Treatment greatly reduces your risk of getting coronary heart disease, or of having a heart attack or stroke. If you’re diagnosed with FH, your doctor will discuss and agree a treatment plan with you.

FH is usually treated using medicines called statins, which help to lower your cholesterol levels.

If statins do not lower your cholesterol enough or if you cannot take statins, you may be offered other medicines to take instead, or alongside your statin. These include:

• ezetimibe
• bempedoic acid
• PCSK9 inhibitors, such as alirocumab and evolocumab
• inclisiran
• icosapent ethyl
• bile acid sequestrants
• fibrates such as bezafibrate and fenofibrate.

A very small number of people may be advised to have a treatment called LDL apheresis. This removes cholesterol from the blood by passing it through a machine that filters out the cholesterol before returning the blood to the body, like dialysis.

As well as taking medicine, making healthy lifestyle changes can help improve your cholesterol and protect your heart. FH cannot be treated through diet alone but eating well and staying active still play an important part in your treatment.

It’s important to:

• eat a healthy balanced diet
• maintain a healthy weight
• move regularly and keep active
• stop smoking
• drink less alcohol.

What food should I avoid with familial hypercholesterolaemia (FH)?

It's important to follow a diet low in saturated fat and dietary cholesterol.

Foods that can raise your cholesterol levels include red and processed meat, full-fat dairy products, baked goods and fried foods.

While most people do not need to limit dietary cholesterol, people with FH need to cut down on foods high in cholesterol. Limit cholesterol in food to no more than 300mg a day, ideally less than 200mg a day.

This is about:

• 3 or 4 eggs a week
• shellfish, such as prawns, up to once or twice a week
• liver and offal should be avoided.

What should I eat with familial hypercholesterolaemia (FH)?

Go for foods that lower cholesterol like vegetable oils (sunflower, olive and rapeseed oil), nuts, seeds and avocado and oily fish.

Some foods with added plant stanols or sterols can also help to lower cholesterol. Foods with plant stanols and sterols can be taken alongside cholesterol-lowering medicines, but they are not a replacement for prescribed cholesterol-lowering medicines.

Eating foods high in fibre, like oats, barley, rye, beans, fruit and vegetables, can also help lower your cholesterol. Fibre helps reduce the amount of cholesterol absorbed in your gut.

Pregnancy and familial hypercholesterolaemia (FH)

Can I get pregnant with familial hypercholesterolaemia?

FH should not affect your chances of getting pregnant. However, speak to your doctor before you try to get pregnant. They can check any medicines you’re taking, explain any risks and help give you the right care during pregnancy.

They will also want to discuss the risk of your child inheriting FH and when they can test for it.

Eating a healthy balanced diet and keeping active will help you to stay as healthy as possible during your pregnancy.

Get support

• Speak to our cardiac nurses by phone, callback, email or online chat on Heart Helpline (Monday to Friday, 9am to 5pm).
• Sign up to our Heart Matters magazine for online tips, support and recipes to look after your heart health.
• Join our online HealthUnlocked community to speak to other people going through the same experience.
• If you have any questions or concerns about FH our Genetic Information Service can give you information and support, over the phone or email.
• Read more on familial hypercholesterolaemia including the genes that cause it and the pilot screening program for children.