What is Familial Hypercholesterolaemia?
FH is short for Familial Hypercholesterolemia. It is a genetic condition thought to affect roughly 1 in 250 people. People with FH have very high cholesterol in their blood from birth and this causes their arteries to narrow with atherosclerosis leading to early heart disease – often a heart attack. FH is an inherited genetic disorder, caused by a defect on chromosome 19, which causes higher than normal levels of cholesterol from an early age.
Everyone’s cholesterol levels tend to rise with age, but people with FH are basically born with high cholesterol — and as time passes, it gets worse. These exceptionally high cholesterol levels are often double and sometimes four times those of the general population.
As you have FH from when you’re born, this increases your risk of developing coronary heart disease and having a heart attack at an early age. If you don’t have treatment, 1 in 2 men, and nearly 1 in 3 women with FH will develop coronary heart disease by the age of 55.
So having FH can result in aggressive and premature cardiovascular disease.
If you inherit FH from your parents, 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. Therefore, if you have been diagnosed, it is important that your family members are screened.
Cholesterol itself isn’t bad. We all have and need it in our bodies. It’s a waxy substance which is made in the body by the liver but is also found in some foods. At healthy levels, cholesterol helps your body to work properly by making important hormones.
There are different types of Cholesterol: TC (total cholesterol), LDL (low density lipoprotein) and HDL (high density lipoprotein)
TC (Total cholesterol): Is made up of your good and bad cholesterol.
- LDL (low-density lipoprotein): Sometimes called “bad” cholesterol, LDL makes up most of your body’s cholesterol. High levels of LDL cholesterol raise your risk for heart disease and stroke.
- HDL (high-density lipoprotein): HDL is “good” cholesterol. It absorbs cholesterol and carries it back to the liver. The liver then flushes it from the body. High levels of HDL cholesterol can lower your risk for heart disease and stroke.
In addition to the different types of cholesterol, there is another type of blood fat known as triglycerides which are normally measured as part of your cholesterol test. If your triglycerides are high, it can mean you’re at risk of heart disease, liver disease and diabetes.
People with FH have too much LDL cholesterol circulating, which makes it difficult for the liver to remove it.
FH can be tricky to diagnose. Your doctor may suspect FH if:
- A routine blood test shows you have high levels of cholesterol.
- You had a heart attack or stroke, especially if you are under 50 when it happens.
- Other members of your family have a history of premature heart disease or stroke.
- There are already family members who have been diagnosed with FH.
Some people with FH have physical signs on the outside of their body, including:
- Swollen tendons on the heels and knuckles of the hands (Tendon Xanthoma) or yellowish patches around the eyes (Xanthelasma).
- A white deposit of cholesterol in the shape of an arc (Corneal Arcus) may also be seen at the edge of the coloured part of the eye.
Tendon Xanthomas only occur in people with FH. Corneal Arcus and Xanthelasmas may happen for other reasons.
Research suggests that if identified and treated early, people with FH are likely to have a normal life-expectancy.
FH is usually inherited from one of your parents or on rarer occasions from both.
With early identification and appropriate medical treatment, FH can be managed very successfully.
While many people with high cholesterol who don’t have FH can reduce their heart disease risk through diet and lifestyle changes alone, those with FH must take cholesterol-lowering medications. The most widely used medications are known as statins, however, there are others such as ezetimibe and PCSK9s, learn more. Your doctor will discuss the best treatment plan for you.
There isn’t a cure for FH, but it can be managed very successfully. Getting the right treatment can reduce your risk of getting coronary heart disease, having a heart attack or needing other treatments.
Frequently Asked Questions about FH:
1. What is the difference between high Cholesterol and Familial Hypercholestrolemia
Most people know that high cholesterol can cause narrowing or blocked arteries, increasing your risk of life-threatening heart attacks and strokes.
What many people might not realise is that some people develop high cholesterol as a result of a genetic disorder, which is known as Familial Hypercholesterolemia (FH), and are much more likely to suffer from early-onset heart disease that can lead to heart attacks or death.
2. Are you affected by FH all your life?
Yes, FH is a lifelong journey. It is not a temporary condition. FH is not curable, but it is treatable. When you have FH, the most important step to take is following the treatment suggested by your doctor.
3. I have been diagnosed with FH but I don’t like the idea of taking medication. Can I lower my Cholesterol through diet and exercise?
Unfortunately, FH can’t be treated by diet and exercise alone. These lifestyle changes can help, but medications are required when LDL cholesterol levels need to be reduced significantly.
4. What level of Cholesterol should I aim for?
Your doctor will discuss the best treatment plan for you and agree target levels for your cholesterol. For most adults with FH, the aim is to cut your LDL cholesterol level by half.
Adults who have FH, and are already diagnosed with coronary heart disease or who have had a stroke or other forms of arterial disease, should try to reduce their LDL cholesterol to 1.4mmol/l or below.
Your doctor will arrange for you to have blood tests each time you visit. The results of these tests will show how well your cholesterol is being controlled and help your doctor decide if any changes need to be made to your medicines. Your doctor will probably see you more often when you are first diagnosed with FH and you may be referred to a specialist lipid clinic. Once your treatment is stable, your visits will be less frequent – perhaps just once a year.