Tests for heart and circulatory conditions
Tests are used to diagnose a heart condition or to see how healthy your heart is. Find out what to expect from some of the most common tests.
FH is an inherited condition that is passed down through families and is caused by one or more faulty genes.
It's caused by a genetic mutation (a change in one or more 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. Having FH means you’re at risk of getting heart and circulatory disease at an early age if it’s not treated.
FH is one of the most common inherited conditions that affects about 1 in every 250. It’s estimated that around 270,000 people in the UK have it, but many don’t know they do.
If one of your parents has the condition, there’s a 50 per cent (1 in 2) chance that you could have it. If you have FH, there’s a 1 in 2 chance that you could pass it on to any of your children.
Having high cholesterol causes a gradual build-up of fatty material in your coronary arteries (known as atheroma). Other risk factors – like high blood pressure or smoking – can also cause atheroma build-up.
A build-up of atheroma means your arteries gradually become narrower, making it harder for blood to flow to your vital organs. This puts you at higher risk of having a heart attack or stroke.
FH is not easy to diagnose. Your doctor may suspect FH if:
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: This is swelling on your knuckles, knees or your Achilles tendon at the back of your ankle. It's caused by a build-up of excess cholesterol. | |
Xanthelasmas: These are small lumps of cholesterol that build up in the skin around the bottom of your eye and on your eyelid. They are usually pale 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 possible that you have 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 signs of FH listed above, they will refer you to a specialist for an assessment, which is likely to include genetic testing. The specialist will explain which of your relatives should be checked out, too.
Genetic testing is a DNA test that’s done to see if you have a faulty gene which can cause an inherited condition. This test may be:
If you’re diagnosed with FH, your first-degree relatives (parents, siblings, children) 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, you should get tested as well. Early diagnosis of FH means you can get treatment and improve your lifestyle to lower your cholesterol and avoid risk to your health.
There isn’t a cure for FH but it can be well managed. Treatment can greatly reduce your risk of getting coronary heart disease, having a heart attack or stroke, or needing other treatments. If you or your child is 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.
There are other types of medicines which can be used to lower blood cholesterol levels either instead of or as well as statins. These are:
As well as taking medications, you'll need to make changes to your diet and lifestyle which also help to improve your cholesterol level.
People with high cholesterol often find they can bring their levels of cholesterol down just by changing their diet. Unfortunately, FH can’t be treated through diet alone, but you should still make sure you:
People with FH benefit from a diet low in cholesterol and saturated fat.
The best way to do this is to swap your saturated fats with foods that are high in unsaturated fat like vegetable oils (sunflower, olive and rapeseed oil), nuts seeds and avocado and oily fish.
A few small swaps can make a big difference to your cholesterol level. Try:
Eating high-fibre food can also help to lower your cholesterol. Fibre helps reduce the amount of cholesterol that is absorbed into the blood stream from your intestine.
Make sure you get at least five portions of fruit and vegetables a day as these contain fibre along with other nutrients.
FH shouldn’t affect your chances of getting pregnant. However, you should talk to your doctor about your plans before you try to get pregnant. This means that they can advise you on your medication and talk to you about risks during pregnancy.
They may 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.
A booklet providing information about the inherited condition Familial Hypercholesterolaemia. It tells you about high cholesterol, its risk on your heart health and how the condition can be passed on through families. It also contains information about treatment and what you can do to help yourself. This booklet was written with HEART UK – The Cholesterol Charity to raise awareness of FH.
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