Heart Condition: Familial Hypercholesterolaemia

What is FH?

Familial Hypercholesterolaemia, FH for short, is an inherited condition which leads to exceptionally high cholesterol levels in your blood, often double and sometimes up to four times that of the general population. This genetic condition is passed from generation to generation through a ‘faulty’ or ‘altered’ gene. Having too much cholesterol in your blood increases your risk of getting heart disease and having a heart attack or stroke.

Having FH does not necessarily affect your quality of life. Although it is inherited, a lot can be done to treat the condition. With early and appropriate treatment, the risk of heart disease can be reduced so that you can live a normal life.

How common is FH?

FH is one of the most common inherited conditions. It is estimated that one in 250-300 people in Ireland have FH, which means that as many 10,000 people in Ireland are living with this condition.

How do you get FH?

FH is something you are born with, having inherited it from one of your parents. Our DNA provides the instructions (to make the special proteins) that help control the amount of cholesterol in your body. FH is caused by a ‘faulty’ or ‘altered’ gene in your DNA resulting in the production of too much cholesterol.

This gene is passed from parent to child and can affect one or more family members. If one of your parents has FH then there’s a 50% chance that you will inherit it. If you do, then there’s also a 50% chance you will pass it on to each of your own children. It affects both boys and girls and does not skip a generation.

What is the connection between FH & cholesterol?

Cholesterol is a waxy substance that is needed by your body to build cells, digest foods and make some hormones. In the bloodstream, most of the cholesterol is packaged up in a particle referred to as Low Density Lipoprotein or LDL and your LDL cholesterol can be measured on a blood sample. If you have too much LDL cholesterol in your blood it can become embedded in the walls of blood vessels over time, leading to the development of plaques (or swellings) that make the blood vessels much narrower, a process called atherosclerosis. This means you have a higher risk of getting coronary heart disease and having a heart attack or stroke than people with lower levels.

What are the signs of FH?

FH is present from birth and many people may not even be aware they have it. Your doctor may suspect FH if:

  • you have high cholesterol (particularly LDL cholesterol)
  • you have a family history of FH
  • you have already had a heart attack, particularly if it was at a young age
  • members of your family have coronary heart disease or have had a heart attack at a young age.

Most people with FH don’t have any physical signs but occasionally they have:

  • swollen tendons on the heels and/or on the knuckles of the hands (tendon xanthomas)
  • yellowish patches around the eyes and eyelids (xanthelasma)
  • a pale or white ring around the iris or the coloured part of the eye (corneal arcus).

Why should I be tested for FH?

You should be tested for FH if you have very high cholesterol – especially LDL cholesterol. The benefits of being tested are:

  • early diagnosis and starting treatment early greatly reduces your risk of
  • having a heart attack or stroke or dying prematurely
  • your cholesterol levels can be monitored and managed
  • close members of your family can also be tested and treated if required

How do I find out if I have FH?

If you are concerned that you may have FH you should consult your doctor as soon as possible. Your doctor can discuss your family history with you, arrange for your cholesterol level to be checked, and do a physical examination. If your doctor suspects FH, you may then be referred to a specialist consultant or to a lipid clinic for additional tests such as a DNA test.

How can FH be treated?

FH can be managed very successfully. For the best outcome, it is recommended to treat FH medically as soon as possible after the diagnosis is made. Cholesterol-lowering drugs have been proven to reduce the risk of heart disease. If taken as prescribed, from an early age, this medication can help give you a normal life expectancy. For children with the condition, ideally medical treatment should begin before they reach the age of ten.

FH is usually treated using medicines called statins. Statins are the most commonly prescribed cholesterol-lowering medicine. They slow down the production of cholesterol in your liver, increase the rate at which it is removed from your bloodstream and are very effective at lowering LDL cholesterol, thereby preventing heart disease.

It is essential that people with FH take their cholesterol lowering medication. However, they can further reduce their risk of heart disease by making healthy lifestyle choices. People with FH should never smoke. They can also reduce their risk of heart disease by adopting a healthy balanced diet (low in salt and saturated fat and high in fruit and vegetables) and being physically active.

What impact does it have on my family if I have FH?

Not all family members are affected, but it’s very important to find out which ones are.

Testing family members is crucial for early detection and can make any subsequent management of the condition more successful. The process involves checking their LDL cholesterol levels and sometimes a DNA test. For children, testing is generally recommended from 5 years of age.

How might FH affect my day-to-day life?

Being diagnosed with FH may be worrying or stressful, which is normal. If you’re a parent, you may feel guilty about having passed the altered gene to one or more of your children. You may find it difficult to explain the importance of being tested for FH to other members of your family. You may also be frustrated by the requirement to take tablets as you may already have a healthy diet and lifestyle. In these instances, it is helpful to talk to family, friends or to your doctor about how you feel. And it is important to remember that, if you have early treatment, you can expect to live a full and healthy life.

This booklet has been produced with the help of doctors and other health professionals. We hope it will help you to understand your condition and what it means for your close family. If you need further support or information on FH visit www.croi.ie or call 091-544310