Familial hypercholesterolaemia (FH) is a genetic condition which leads to very high cholesterol levels. In the UK, about 1 in 250 people has FH. For people with FH, their high cholesterol is not caused by unhealthy diet or lifestyle, but by a mutation in one of the genes involved in clearing cholesterol from the bloodstream (LDLR, APOB and PCSK9.) Someone who has FH has a 50% chance of passing on this gene mutation to each of their children.

If people with FH are not given treatment, their high cholesterol can lead to early heart disease. 50% of men and 30% of women with untreated FH will develop coronary heart disease by the age of 55. But diagnosis and treatment of FH can lower cholesterol levels, allowing people with FH to live as long as those without the disease, so it is important to identify FH as early as possible.

Unfortunately, many people with FH have not been diagnosed. Diagnosis can be made using the ‘Simon Broome’ criteria: high cholesterol, tendon xanthoma (visible deposition of cholesterol under the skin), family history of FH, or heart attack at a young age. But the strongest evidence for FH is finding an FH-causing mutation in a person's genes.

Image from the FH Foundation.
Further information about FH can be found at Heart UK or the British Heart Foundation.

From January 2017, StoreGene will offer next generation sequencing-based genetic testing for FH-causing mutations. Having a genetic test for FH can help doctors give the right treatment for FH, and allow them to tell a patient more about how the mutation in their genes causes raised cholesterol.

As well as confirming the diagnosis, finding such a mutation also allows cascade testing, where relatives can be easily tested to see if they also have the condition. Contact us to find out more about using our FH genetic testing service.