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. 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.
FH and high cholesterol
If you have FH, your liver is unable to remove enough non-HDL cholesterol from your blood. This means the bad type of cholesterol in your blood remains high.
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.
Why does my doctor think I have 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. These can include:
|Tendon xanthomata: Pronounced zan-tho-mata. These are swellings made from cholesterol on your knuckles, knees or your Achilles tendon at the back of your ankle.
|Xanthelasmas: Pronounced zan-thel-as-mas.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.
Treatments for FH
There isn’t a cure for FH, but it can be treated successfully. The 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.
You may be prescribed a medicine called a statin which helps lower your cholesterol levels. You should also make sure that you have a healthy diet, maintain a healthy weight, and take plenty of exercise.
Testing for Familial Hypercholesterolaemia (FH)
If you think you have FH:
- Contact your GP and ask to be referred to a lipid clinic or FH service.
- Contact our Genetic Information Service on 0300 456 8383*. They’ll be able to give you more details on where FH services are and how you can contact them.
- Talk to your family to see if there’s a history of high cholesterol or heart conditions in your family.
*Lines are open from 9am to 5pm Monday to Friday and charged at a rate similar to 01 or 02 call.
Leading the fight against FH
The British Heart Foundation (BHF) is the largest independent funder of cardiovascular research in the UK.
Thanks to our research, we now know about some of the genes that contribute to the development of FH. As a result, genetic testing for FH is being rolled out across the NHS, which ensures close family members of people diagnosed will be tested and receive treatment as soon as possible, if they have FH too.
But more still needs to be done.
Thousands of people across the UK carry a faulty gene, which puts them at risk of developing an inherited heart condition. Find out more about the BHF campaign to raise awareness of these conditions and the sudden devastation that they can cause.
Help end the devastation
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