Understanding the link between genetic conditions and heart disease


There are many factors that can raise a person’s risk of cardiovascular diseases such as unhealthy diets, lack of exercise, smoking or stress, but for some, it can be as simple as being in your genes.

Here, at Alphega Pharmacy, we want to share raise awareness of the hidden role genes can play in causing heart disease, and how to manage these conditions. Familial hypercholesterolaemia (FH for short) is one of the most common and easy to diagnose inherited conditions that raises a person’s risk of developing heart disease.

Someone living with FH can experience extremely high cholesterol levels in their blood, something that in turn is a major risk factor for heart disease. It is caused by a problem with one or more genes, a trait that you inherit from your parents. Despite not being well known, FH is fairly common; it is thought that around one in every 200-250 people may have FH. So if you think you might have this genetic condition, it’s important to have it checked – and your Alphega Pharmacist is there to help you.

How is FH different from other causes of high cholesterol?

Because FH affects cholesterol metabolism even before birth, cholesterol levels will be high in sufferers from childhood. The raised fatty lipids in the blood can mean that heart attacks and other cardiovascular diseases can happen earlier than with other risk factors.

For example, a poor diet full of saturated fats and high in sugar can be expected to raise cholesterol over time, and its negative effects usually seen later in life. For someone with FH, the risks exist even during childhood due to the extremely high levels of cholesterol FH can cause.

Once one person in a family has been diagnosed with FH, genetic testing makes it possible to find other people in the family who have inherited the condition. The condition can then be managed in order to lower cholesterol in the blood and reduce the risk of heart disease.

If you think you or anyone else in your family might have FH, it’s important to speak with your doctor or local Alphega Pharmacist who can advise and arrange a blood test.


How FH raises cholesterol

We have said that FH raises cholesterol in the blood, but why does that happen? FH isn’t a condition that affects the blood directly, it actually causes a problem with the way the cells in the liver interact with your blood.

Cholesterol levels in the blood are usually managed by the liver. As blood enters the liver, special receptors in liver cells detect cholesterol (specifically a type of cholesterol called LDL) which then grab the cholesterol, remove it from the blood and break it down.

A person with FH will have a fault in one or more of their genes that is in charge of making the receptors in liver cells. This means that the liver can’t clean the blood of cholesterol properly, causing the extremely high levels that raise the risk of cardiovascular disease.

How can I tell if I have FH?

High cholesterol is very difficult to spot without having a cholesterol check done by a healthcare professional. It usually has no visible symptoms, but for some people with FH and very high cholesterol levels, there may be some signs you can spot:

  • Swollen tendons on the back of the hands or Achilles tendon

  • Fatty deposits around the eyes in the form of raised, pale or yellow patches on the eyelids or under the eye

  • A white ring around the iris caused by fatty build ups. If this occurs in someone under 45, it is a strong indicator of FH

Every adult should be tested for cholesterol, and the more that are, the more likely we will be able to identify cases of FH before they can cause a serious heart event. Speak to your local Alphega Pharmacist to arrange your cholesterol check and for more help and advice around cholesterol. Find your nearest Alphega Pharmacy here