Heart Condition: Familial Hypercholesterolaemia
Familial hypercholesterolemia (FH)
What is FH?
FH is short for Familial Hypercholesterolemia. It 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.
This results in aggressive and premature cardiovascular disease. It is estimated that one in 250-300 Irish people are carrying the abnormal gene giving them a five times higher risk for coronary heart disease at a much younger age.
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.
What’s the link between FH and cholesterol?
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 two types: LDL (low density lipoprotein) and HDL (high density lipoprotein).
- LDL (low-density lipoprotein), sometimes called “bad”cholesterol, 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),or “good” cholesterol, 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.
People who have FH have too much LDL cholesterol circulating, which make the liver incapable of metabolising (or removing) it.
How is FH detected?
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. FH can be tricky to diagnose. Your doctor may suspect FH if:
- a routine blood test shows you have high levels of cholesterol
- you have 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.
These include 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.
How can FH be treated?
FH can be managed very successfully by a healthy diet and lifestyle in combination with appropriate medical treatment.
While many people with high cholesterol who don’t have FH can manage their heart disease risk through diet and lifestyle changes alone, if someone has FH, it is crucial that they take cholesterol-lowering medications as well to effectively manage their risk.
The specific medication or medications someone with FH is started on will depend on various factors, including other risk factors, age, current health and possible side effects.
For some people with FH, more aggressive measures are needed, including LDL-apheresis (a very simple procedure in which LDL-C cholesterol is removed from the blood on a weekly or biweekly basis).
Life with FH
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.
It is important to find FH and take action at any age, because when treated, the risk of heart disease can be reduced to levels similar to those of the general population.