What is familial hypercholesterolaemia (FH)?
FH is an inherited condition that is passed down through families and is caused by one or more faulty genes.
FH is caused by a genetic mutation that means your liver is unable to remove excess ‘bad’ cholesterol, known as LDL. This means the LDL level in your blood remains high. Having FH means you’re at a greater risk of getting heart and circulatory disease at an early age if it’s left untreated.
If you have very high cholesterol levels or if you’ve had high cholesterol from birth, you may have FH. Having FH means you’re at a greater risk of getting heart and circulatory disease at an early age if the condition is left untreated. Around 1 in 250 of the UK population has the condition, although many people are unaware they have it.
Why is high cholesterol bad for you?
Having high cholesterol causes a gradual buildup of fatty material in your coronary arteries, otherwise known as atheroma. Other risk factors – like high blood pressure or smoking – can also contribute to atheroma build-up.
A build-up of atheroma means your arteries become thinner and blood can’t flow to your vital organs easily. This puts you at higher risk of having a heart attack or stroke.
What are the signs and symptoms of FH?
FH is not easy to diagnose. 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 young age
- other members of your family have a history of premature heart disease or stroke, or
- other members of your family have been diagnosed with FH.
You may also notice physical changes to your body that suggest you have FH. Your doctor will perform a simple physical exam to check for these symptoms. These can include:
|Tendon xanthomata: These are swellings made from cholesterol on your knuckles, knees or your Achilles tendon at the back of your ankle.
|Xanthelasmas: These are small lumps of cholesterol near the inner corner of your eye. They are usually yellow in colour.
|Corneal arcus: This is a pale white ring around your iris, the coloured part of your eye. If you’re under 50 years old and have corneal arcus, it's a strong sign that you have FH.
How is FH treated?
There isn’t a cure for FH but it can be treated. Treatment can reduce your risk of getting heart disease, having a heart attack or stroke, or needing other treatment. If you or your child is diagnosed with FH, speak with your doctor about the best treatment plan.
People with high cholesterol often find they can bring their levels of cholesterol down by changing their diet. Unfortunately, FH can’t be cured through diet alone but you should still make sure you:
You’ll be prescribed statins
which will help regulate your levels of LDL cholesterol. If you can’t take statins, then other medications, like ezetimibe, may be prescribed to you.
Testing for FH
The first step to finding out whether you have FH is to visit your GP to have your cholesterol checked. Your doctor will also ask whether you have a history of high cholesterol or heart conditions in your family.
If your results come back high, or if your doctor notices some of the physical symptoms listed above, they will refer you to a lipid clinic or FH service. This is likely to include genetic testing.
If you’re diagnosed with FH, your first degree relatives should also be tested as soon as possible. FH is an inherited condition which means that if a parent has FH, their child has a 50% chance of inheriting it.
If one of your family members has FH, it’s imperative you get tested as well. Early detection and preventative treatment is key to effectively treating FH.
For more information on FH
- Contact our Genetic Information Service on 0300 456 8383 from 9am to 5pm Monday to Friday. They’ll be able to give you more details on where FH services are and how you can contact them. Calls are charged at a similar rate to 01 or 02 numbers.
- Read Donna's story about living with FH to find out more about how cascade testing diagnosed FH in her family.
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