Ref: 04/Q0104/146
DNA Diagnosis for Familial Hypercholesterolaemia
Patient Information Sheet (adults).
What is familial hypercholesterolaemia (FH)?
Familial hypercholesterolaemia (FH) is a condition which occurs in about one person in every 500 and is one
of the most frequently occurring inherited conditions. People with familial hypercholesterolaemia (FH) have
high (twice normal) cholesterol levels from birth and they are at a high risk of early heart disease. FH is
caused by an alteration within a gene, also known as a gene mutation, that results in very high cholesterol
levels. If a parent has FH, each of their children has a 50:50 chance of inheriting it. Unfortunately, many
people with FH in the UK are not diagnosed. If FH is not detected it may have tragic consequences.
Without treatment people with FH may suffer heart attacks, often in their 40s or 50s, sometimes earlier and
some are fatal. If people are diagnosed early in life, they can be given lifestyle advice and medication to
lower their cholesterol levels and dramatically reduce their risk of heart disease.
What is a Gene?
Genes are the instructions, or blueprints, that make our bodies function. Our bodies are made up of millions
of cells and each cell contains 2 copies of all our genes. We inherit one copy from each of our parents.
Genes are made up of long strings of letters that are divided up, like chapters in a book. If there is a spelling
mistake in either of the 2 copies of the gene it can change how the gene works. These spelling mistakes are
called gene alterations or mutations.
What will happen to me?
We would like to look at a sample of your blood to see if you carry an alteration in any of the known FH
genes. This involves taking a small sample of your blood (about two teaspoons full). This sample will be in
addition to your normal blood samples. You will be seen by a nurse or a doctor to discuss the test, and your
contact details will be taken so that we can inform you of the test results when they are available.
We cannot identify the exact cause of FH in about half of all patients, but we are trying to discover more
through research. We know that FH can be caused by changes in 3 genes - the LDLR gene which helps to
remove cholesterol from the blood, the APOB gene that holds the cholesterol particles together in the blood
and the PCSK9 gene which regulates the removal of cholesterol by the LDLR gene.
We believe that there may be other genes that cause FH that we are still trying to identify. It is therefore
possible that further tests will become available in the future. We would like your consent to store some of
your sample in order that it might be tested again, should this occur. Your sample will only be tested for FH,
and will not be tested for any other condition or disease. You can withdraw your consent for testing at any
time.
The advantage of genetic testing for you and your family.
If we are able to identify a gene alteration that has caused your FH, this information can then be used to look
for the gene alteration in your relatives. The advantage of the genetic test is that it gives a clear answer, so
your children and other blood relatives can be tested for the gene alteration.
If we don’t find a gene alteration in your blood sample we would like to offer your relatives a blood
cholesterol profile test, which can also identify at risk relatives. If only the cholesterol profile is measured,
this may not give such a clear answer and follow up testing may be required. Family cascade testing, using
genetic testing or cholesterol profiles, can identify members of your family that might be at risk of developing
early heart disease. Early diagnosis allows people to alter their diet and lifestyle and to start one of many
effective treatments to lower their cholesterol.
FH in children.
It is important to identify FH in childhood, particularly in families in which heart disease is occurring in early
adult life. Children should be tested before the age of 10, but generally, not before they are 2. A diet low in
total and saturated fat can be healthy for children over 2 years of age, provided it contains sufficient calories
and nutrients to support normal growth.
Protection of information and confidentiality.
All the information we obtain about you will be strictly confidential. Your information will be stored on a
secure electronic database, which will be kept according to the data protection laws. The only additional
data that will be collected from you that may not already be available in your medical notes is a family tree
(pedigree) that will be drawn using information given by you, plus cholesterol test results and DNA results.
Only the clinical team treating you will have access to the data. Information about you or your genes is
bound by the regulations of medical confidentiality and will not be made available to outside organisations or
insurance companies. It is usual for us to tell your General Practitioner about the results from medical tests
like this, but please inform us if you do not want us to notify your General Practitioner.
Insurance policies.
Insurance premiums are based on what your actual cholesterol levels are, and insurers cannot access
genetic tests.
Benefits of knowing if someone has FH.
FH is a treatable condition and the earlier treatment is commenced, the more effective it will be in preventing
early heart disease. If you are found to have an abnormal cholesterol profile, you will receive advice on the
best treatment to keep it under control. Family tracing allows members of your family to be identified early
and be treated.
ANY QUESTIONS?
Please ask any questions you may have. We are here to help, and you are not obliged in any way to
undergo testing. If you have further questions please contact the Lipid and Metabolic Clinic:
Dr R D G Neely, Consultant in Clinical Biochemistry and Metabolic Medicine
Tel: 0191 282 4301 or,
Mrs Susan Fairgrieve, Principal Genetic Counsellor, Northern Genetics Service
Tel : 0191 241 8742