What is FH?
Familial Hypercholesterolaemia (FH) is an inherited condition that is passed down through families and is caused by a fault in the gene that controls the way cholesterol is handled in the body. If you have very high cholesterol levels or if your cholesterol has been raised since birth, you may have FH. Genetic inherited high cholesterol (FH) is not caused by an unhealthy diet or lifestyle, but is passed from generation to generation. This means that brothers and sisters or children of someone with FH have a one in two (50%) chance of inheriting the condition. Inheriting FH means that you are at a greater risk of developing heart and circulatory disease at an early age if the condition is left untreated. Approximately 1 in 250 of the UK population has the condition; however, FH is treatable and can be controlled with the use of cholesterol-lowering drugs combined with a healthy lifestyle.
FH is not easy to diagnose. Your doctor may suspect FH if:
- a routine blood test shows you have a high cholesterol level
- you have a heart attack or stroke, before the age of 60
- other members of your family have a history of heart disease or stroke, before the age of 60 or
- other members of your family have been diagnosed with FH.
There is no cure for FH but it can be treated successfully. A routine blood test will identify if you have a high cholesterol level and if your Doctor thinks it may be due to FH, you can be referred to the FH service to be seen in your local area. There are other causes of high cholesterol and these will be ruled out by your GP before referral to the FH service. This new service means that if someone living in the West Midlands has unusually high cholesterol, their DNA can be tested for FH causing genes. If after testing, you are found to have a gene alteration that causes FH, you will be seen by a specialist Doctor in your local hospital so that your condition can be properly managed.
Testing for FH can be offered to family members to see whether or not they also have inherited the same gene alteration that causes the condition. The follow up testing of family members is called cascade testing and this is more reliable than cholesterol testing alone, as cholesterol levels can be variable, particularly in young children and adolescents. Immediate blood relatives are offered testing and then if found to have FH; their relatives can also be offered testing and so on, in a cascade type fashion. This means that testing is not limited to 1st degree relatives but can be extended to the wider family. Testing can also be offered to young children either using mouth swabs or by finger-prick blots and is recommended before the age of 10 years.
What is a gene?
Genes are like an instruction manual for the way our bodies are built and function, we inherit our genes from our parents. Occasionally an alteration in a gene can mean a certain body function doesn’t work as well as it should. FH occurs when an alteration in a gene stops our body being able to reduce the amount of cholesterol in the blood. This can usually be easily treated with medication.
It is important to note that not all people with high cholesterol will have an identified genetic cause. The FH nurse will be able to explain whether a test is appropriate and what the results might mean.
Relatives of those who are identified as having FH will have a 50% chance of also having the same gene alteration. The screening of family members is a proven way of identifying those at risk before disease develops.
If you think you or a family member may have FH, speak to your GP about referring you to the West Midlands FH service to be assessed by a specialist nurse.
Email: Elaine.George@uhb.nhs.uk, supported by the Clinical Network team.