Familial Hypercholesterolaemia

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This disorder is caused by a problem in your genes. There are four genes that could cause Familial Hypercholesterolaemia; LDLR, APOB, PCSK9, or LDLRAP1. These genes help to move bad cholesterol (called low density lipoprotein, or LDL) from your blood. This process is required to stop your arteries from narrowing so that blood flow can reach the whole of the body. 

 If you have a problem in either the LDLR, APOB, PCSK9, or LDLRAP1 gene, you will not be able to remove bad cholesterol from your blood effectively. Therefore, your arteries will narrow, and your blood flow will be restricted. This means you are more likely to have a heart attack at a younger age. 

This is a relatively common disorder, with between 1 in 250 and 1 in 500 people likely to be affected. Precise numbers are not available because it is believed that many people who suffer with Familial Hypercholesterolaemia are undiagnosed. In the UK, around 1 in 250 people are thought to be affected. 

 Familial Hypercholesterolaemia has been observed to occur more often in some nationalities, including Afrikaners, Lebanese, French Canadians, and Finns. 

Familial Hypercholesterolaemia affects you from birth, although many people will not have symptoms until they are much older, and some do not show signs of the condition at all. 

 Signs and symptoms include: 

• Bumps or growths around your knuckles or Achilles tendon 
• Yellowish cholesterol build-up around the eyes or eyelids 
• A pale, grey-coloured ring around the iris of the eye Chest pain (angina), possibly from a young age 
• Calves cramping when you walk 
• Sores on your toes that do not heal 
• Sudden stroke-like symptoms such as trouble speaking, drooping on one side of the face, weakness of an arm or leg, and loss of balance 

 Without diagnosis, or the appropriate management, Familial Hypercholesterolaemia can lead to heart attacks, even at an early age. Following a healthy lifestyle is vital to reducing the risk of heart attack and other heart-related illnesses.  

 Those who do live a healthy lifestyle are more likely to live a long life. However, life expectancy varies for those with Familial Hypercholesterolaemia, depending on the severity of the condition and way in which it is managed. 

To diagnose Familial Hypercholesterolaemia, your medical team will check your cholesterol to see whether it is abnormally high. If required, they will then do a specialised blood test and a genetic test. 

 Familial Hypercholesterolaemia, similar to many cholesterol-related conditions, typically has very few symptoms, and you may not be diagnosed until you, or a family member (such as a parent or sibling), suffer from a heart attack. 

Treatment for Familial Hypercholesterolaemia largely involves lifestyle changes in order to reduce the amount of bad cholesterol in your blood. This includes: 

• Eating a balanced diet that is low in fat 
• Exercising regularly and keeping active 
• Not smoking (this is essential to reducing the risk of heart attack) 
• Taking medication to reduce the levels of cholesterol in your blood 

 Consult with your medical team to get the best advice for you and your circumstances. 

If your Familial Hypercholesterolaemia is the result of a mutation in the LDLR, APOB, or PCSK9 gene, you have inherited your condition in an autosomal dominant pattern. This means that you have inherited the gene from one of your parents, who will also have Familial Hypercholesterolaemia. A parent with the condition has a 50% chance of passing it on to their children. 

 Inheritance is different for those who have a problem with the LDLRAP1 gene because it follows an autosomal recessive inheritance pattern. This means that both parents must be carriers of the faulty gene in order to pass it on. Parents that are carriers have a 25% chance of having a child with the condition, and a 50% chance of having a child who is also a carrier of the faulty gene. 

 If you suffer from Familial Hypercholesterolaemia, it is important that your family is tested too, including parents, siblings, and children, as it is possible that they will also have the condition.  

References are available on request. Please contact us by phoning 0845 241 2173 or emailing contact@metabolicsupportuk.org [Resource Library No: FFL005].