|Genes included: LDLR, PCSK9, LDLRAP1, APOB
Number of variants called: 234
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 an 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.