We answer your frequently asked questions about Familial Hypercholesterolaemia (FH). If you have further questions please contact our Cholesterol Helpline by email, phone or letter.
How does Familial Hypercholesterolemia develop?
Familial Hypercholesterolemia does not develop, it is an inherited genetic disorder that is present from birth and is lifelong. It is carried down through generations so there is often a history of early heart disease in parents and grandparents. The main aim of treatment is to reduce LDL cholesterol and the risk of premature angina or heart attack, and to reduce the occurrence of further heart attacks in people who already have coronary heart disease. The prevalence of FH is at least 1 in 500 (120,000) but may be more as in other European countries. The figures quoted for other European countries, such as Holland are around 1 in 200 to 1 in 300 (in the UK that would result in more than 300,000 people with the disease). There is currently insufficient data in the UK to quote these higher numbers.
Is there a cure for Familial Hypercholesterolemia?
There isn’t a cure for Familial Hypercholesterolemia, but it can be treated very successfully. Statins and a healthy diet and lifestyle are the main treatments and together these can greatly reduce your chance of getting coronary heart disease or having a heart attack.
Is there a risk of sudden death with Familial Hypercholesterolemia?
Cholesterol is called a silent killer because it often goes undetected. People with Familial Hypercholesterolemia who are not diagnosed or treated for high cholesterol can have an early heart attack which may be fatal. This type of sudden death can alert family members to the possibility of FH (or another inherited heart condition) in the family. If you are concerned that a close family member has died from undiagnosed FH speak to your doctor for advice, or contact our Cholesterol Helpline for information and support.
How can I find out if I have Familial Hypercholesterolemia?
It is not easy to diagnose Familial Hypercholesterolemia (FH). Ideally it is done by a specialist such as a clinical biochemist or lipidologist and usually in a lipid clinic. Your doctor or specialist might suspect you have FH or refer you to a specialist if:
- a blood test shows your have a total cholesterol above 7.5mmol/l or an LDL above 4.9mmol/l
- you have a heart attack at a young age
- other members of your family have had heart disease at an early age
- close members of your family have been diagnosed with FH
- you show signs of physical changes caused by high cholesterol such as corneal arcus (a white ring around the eye), or tendon xanthomata (cholesterol deposits on the tendons on the back of the hands and ankle)
Why do I need to lower my cholesterol?
Having a high level of LDL (bad) cholesterol in the body is closely linked to developing coronary heart disease (CHD). There are three coronary arteries which supply nutrient rich oxygenated blood to the HEART. They divide many times so that the blood reaches every part of the heart muscle. Over time these coronary arteries can become narrowed because of a build-up of cholesterol rich deposits called atheroma. If the coronary arteries become very narrow this limits the blood supply to the heart muscle and can result in discomfort or pain in your chest, arm, neck, back or jaw. This is called angina. If one of the coronary arteries becomes completely blocked, a section of the heart muscle can be damaged or die - this is a heart attack or Myocardial Infarction (MI). There is good evidence that by lowering your cholesterol you can avoid developing heart disease, having a heart attack or needing other treatment.
Why should I take a statin?
Because you have Familial Hypercholesterolemia, your liver cannot remove excess cholesterol in the same way as someone that doesn’t have FH. Taking a medicine called a statin can help your body to remove some of this excess cholesterol from your blood. Statins work by blocking a key enzyme needed for the production of cholesterol. This in turn helps make the normal gene work much harder to help clear excess cholesterol from your blood. Statins also work in other ways to lower the risk of a heart attack. In particular they help to stabilise cholesterol rich deposits (plaques) in the blood vessel wall, preventing them from rupturing and causing a heart attack or a stroke.
What if I am planning to start a family?
As with all medicines it is difficult to know exactly what effect statins have on an unborn baby. If you are planning a pregnancy it is best to let your doctor know. They will advise you when to stop your statin, usually three months before you try to get pregnant. This allows time for the statin to be used up by the body so there will none left in your blood when you get pregnant.
Doctors usually recommend that you stay off your statin while you are pregnant and also while you are breastfeeding your baby. If you are not breastfeeding, you can start your statin again once your baby is born.
Will my children inherit Familial Hypercholesterolemia from me?
Familial Hypercholesterolemia is a genetically inherited disorder which is autosomally dominant. This means that each child born to a parent with FH has a 50:50 (1 in 2) chance of inheriting FH. It affects boys and girls equally and it cannot skip a generation. If neither parent has FH then a child cannot inherit it. Most children with FH have one copy of an altered gene and this is called heterozygous FH or HeFH. Very occasionally a child will have inherited two altered genes, one from each parent and this is called compound heterozygous or homozygous FH - HoFH).
What if my doctor won't test my child for Familial Hypercholesterolemia?
If you or your partner has Familial Hypercholesterolemia it is important that your child is tested before they reach the age of 10 years. You can discuss the best time to do this with your specialist or your GP when you, or your partner, attend for a routine appointment or annual review.
Some doctors are less familiar with FH, so, if this is the case, it may help if you take along some information with you - such as information from this website. This can often help your doctor to decide to test your child or refer them onto a specialist centre for testing.
Most doctors are sympathetic to the concerns of their patients and will be very willing to test your child, however if you experience further difficulties you can discuss these with the nurses and dietitians on our Cholesterol Helpline. They will be able to direct you and your doctor to the best practice guidance for the diagnosis of children with FH.