What is FH?
Find out about how FH raises your cholesterol and how it’s passed down through families.
If you or your doctor think you might have FH, there are a number of tests they can do to get a better idea of what’s going on.
Your doctor will:
Your doctor can then make a clinical diagnosis using a set of guidelines called the Simon Broome criteria or the Dutch Lipid Clinical Network criteria.
Your doctor should refer you to a specialist in a lipid clinic for tests and treatment and for confirmation of the diagnosis of FH. These are centres run by specialists in blood fats and diseases of the heart and blood vessels.
You should be offered genetic testing if there is a very strong likelihood that you have the condition. This is a specialist test that tries to identify a gene alteration that is causing the condition.
Getting a diagnosis means you can get the right treatment and make healthy changes to your lifestyle to lower your cholesterol and help prevent heart disease and other serious illnesses. It also means that members of your family can get tested and start treatment if they need it. If you have children, they should get tested too.
FH is passed from parent to child in the genes, and it’s usually possible to trace FH back through several generations.
Talk to your GP about illnesses in your family to see if your high cholesterol could be due to FH. If you go to a lipid clinic, you can also help your specialist draw a family tree.
Drawing a family tree helps your doctor to find out if your high cholesterol is caused by FH, and it means they can see if there is anyone else in your family who might have FH. The family tree is known as a pedigree.
It’s possible to have two altered genes – if you have two parents with FH and you inherit the altered gene from both parents. This is very rare. This is called compound heterozygous or homozygous FH.
What do I need to know about my family history?
To draw your family tree, your doctor will ask you:
There are a few physical signs and symptoms your doctor will look for if they think you might have FH. They are easy to miss, so you might have these signs and not notice.
If you don’t have these signs, it’s possible you still have FH, as not everyone with FH has them.
If your doctor thinks you have FH, you have probably already had a cholesterol test. You might have your cholesterol tested again, this time to look at all the different types of fats, known as lipids, in your blood. This is called a lipid profile, or a full fasting lipid profile.
Your doctor may also arrange for your blood to be tested for other things, such as blood sugar to check for diabetes, and signs of how well your liver and kidneys are working.
There are different types of FH, as it can be caused by alterations in different genes. Genetic testing means your doctor can find out if you definitely have FH and which type you have – as the tests can find the specific gene involved.