Familial Hypercholesterolaemia (FH) is a genetic condition which occurs in about one person in every 250. It causes high cholesterol levels in the blood and is inherited through families. It can cause the arteries to narrow and clog and can lead to early coronary heart disease. People with 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, which results in very high cholesterol levels from birth. If a parent has FH, each of their children has a 1 in 2 (or 50:50) chance of inheriting it from them. Without treatment people with FH may suffer heart attacks and strokes, 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.
Genetic tests are now available that can help identify the alterations in the genes that cause FH. This means that if a person is found to have a FH gene we can also offer to test their relatives and identify and treat those affected before they develop heart disease. The FH service offers genetic testing from the age of 2 years old.
Clinical Genetics – Familial hypercholesterolaemia