Familial Hypercholesterolemia (FH)

Cholesterol is a natural fatty substance found in your blood and it is essential for healthy functioning of the body.

Some of our Cholesterol is made in the liver, but we also get cholesterol from the food we eat, in particular from high fat foods.

Cholesterol is carried in your blood by proteins and are known as lipoproteins when they combine together. There are two main types of cholesterol or lipoproteins.

• ‘Good’ cholesterol or High Density Lipoproteins (HDL) that takes fat away from your artery walls
• ‘Bad’ cholesterol or Low Density Lipoproteins (LDL) that sticks to your artery walls and causes a fatty build up.

There is another type of fat called Triglycerides. This is a fatty substance found in our blood and its presence is linked to unhealthy lifestyles such as drinking too much alcohol or eating high fat and sugary food. Triglycerides can lead to the narrowing of the artery walls, increasing your risk of heart disease or stroke.

You can have a normal level of HDL and non-HDL cholesterol but still, have a high triglyceride level.

High cholesterol can increase your risk of developing heart disease, such as having a heart attack or stroke.

Click here to read more about cholesterol, how it is measured and what is a healthy cholesterol level.

Familial Hypercholesterolemia (FH) happens because of changes in genes (mutations) passed down in families.

These gene changes mean the liver struggles to remove 'bad' cholesterol, or Low Density Lipoproteins (LDL), from the blood.

As a result, people with untreated FH will have an excessive level of LDL cholesterol in their blood. This LDL cholesterol sticks to your artery walls and causes a fatty build up in your arteries, making them narrower. This makes it harder for blood to reach your important organs, raising the risk of heart attacks, strokes or heart disease, even at a young age.

Familial Hypercholesterolemia is very common, affecting around 1 in 250-500 people in the population.

If one parent has FH, there's a 50% chance their child could have it too. And if someone has FH, there's a 50% chance they could pass it on to their children.

50% of men and 30% of women with untreated FH will develop Coronary Heart Disease by the age of 55.

The good news is FH can be diagnosed quite easily and there are treatments available.

With the right treatment, people with FH can live just like everyone else—healthy, normal lives. So if you think you might have FH or if someone in your family does, it's a good idea to talk to a doctor. They can help you get the right diagnosis and treatment to keep your heart healthy.

We get a copy of each set of genes from each of our parents.

In most cases if we inherit a ‘bad’ or faulty gene, it has no effect - we can compensate because we have a normal copy as well.

Unfortunately, FH is not like this - we only need to inherit one bad copy to be affected with the disease.

This is known as Dominant inheritance. The pathogenic or ‘bad’ gene is dominant over the normal gene. As a result, if someone has FH, then each of their children has a 50/50 chance of inheriting the gene variant and also being affected.

In rare cases, a person may inherit two mutations. This can happen if both parents have FH, and they each pass their variant to the child. The presence of two or more mutations usually results in a more severe form of FH, often appearing in childhood. This is known as Homozygous FH.

It's not always easy to tell if someone has FH as the majority of the time there are no physical signs and symptoms of high cholesterol.

Doctors might suspect FH if:

• a blood test shows you have high cholesterol
• if you have a heart attack or stroke at a young age
• if you have a family history of heart problems or stroke at a young age
• if someone in your family is diagnosed with FH

In rare cases, FH can sometimes have physical symptoms due to extra cholesterol building up in different parts of the body.

• Bumps or lumps around your knees, knuckles, or elbows
• Swollen or painful Achilles tendon
• Yellowish areas around your eyes
• A whitish gray color in the shape of a half-moon on the outside of your cornea

However, not everyone with FH will have these symptoms and many people experience no signs at all.

It’s recommended that you get your cholesterol checked regularly, particularly if you are over 40 or if you are exposed to other risk factors in your diet, lifestyle or family history. If you already have high cholesterol or a medical condition that increases cardiovascular risk, you should take advice from your GP on how often to get checked.

The first thing to do if you think you might have FH is to make an appointment to see your GP. They'll do a blood test to check your cholesterol levels.

Your doctor might also ask you if anyone in your family has had high cholesterol or heart problems before, particularly at a young age.

If your cholesterol test comes back showing high levels, or if your doctor notices any other signs that could point to FH, they may send you to see an FH specialist for more tests, including genetic testing, to find out for sure.

Northern Ireland Chest Heart and Stroke played a crucial role in establishing the screening service for Familial Hypercholesterolemia (FH) in Northern Ireland through campaigning and contributing over £35,000 in funding.

The screening and database project has been developed and funded in partnership with the Health and Social Care Board.

As a result, in Northern Ireland, we are particularly good at this cascade testing and on average we test 7 family members for each new FH patient identified.

Genetic testing for FH is important for two reasons:

• It tells the patient that they have a condition which relies on them taking their medication. It is unlikely that diet and lifestyle alone will completely manage cholesterol in patients with FH.
• More importantly, it allows cascade testing of family members, and diagnosis of patients before the condition becomes apparent. Early treatment is of great value, and the younger the treatment, the better.

What does genetic testing involve?

Genetic testing is usually done by taking a blood test from your arm.

DNA is then extracted from the blood and the genes are examined through a process known as DNA Sequencing.

The results are then reported back to your doctor or FH Nurses. If it is confirmed that you have FH, then testing should be offered to your family members.

If you find out you have FH, it's important that your close family members, like your parents, brothers, and sisters, get tested too.

Even if you don't have FH but someone in your family does, it's still a good idea to get tested. Finding out early means you can start getting treatment and making changes to keep your heart healthy. So, if you're worried about FH in your family, talking to a doctor about getting tested is a smart move.

Although there's no cure for FH, it can be managed well.

Medication

Treatments like statins and other cholesterol lowering medicines help lower cholesterol levels and reduce the risk of heart problems.

If you have FH, reducing your risk of having a heart attack or stroke or developing heart disease relies on you taking your medication.

Diet and Lifestyle

It is very unlikely you will be able completely manage your cholesterol through diet and lifestyle changes alone if you have FH as your cholesterol will remain raised due to your genetics.

However, alongside medication, making healthy lifestyle changes is important for your overall health and may help further reduce your cholesterol.

You can help to reduce your cholesterol by:

1. Eating a healthy balanced diet that is low in fat and high in fruit, vegetables and healthy carbohydrates
2. Managing your weight in line with recommended levels.
3. Increasing your physical activity and exercise.
4. Limiting your alcohol to recommended levels.
5. Quitting smoking if you smoke.

Find out more about lifestyle changes you can make to keep healthy:

• Eat a balanced diet
• Keep physically active
• Watch your weight
• Stop smoking
• Moderate your alcohol intake
• Manage your stress levels
• Get enough sleep

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