At The FH Foundation, our mission is to raise awareness of familial hypercholesterolemia, otherwise known as FH. This means that we often get asked a simple question: what is FH? Answering this question is central to what we do here. While FH is a common genetic disorder, occurring in 1 out of every 500 (potentially 1 in 250) people, very few people actually know that they have it. It is estimated that only 10% of people with FH in the United States have been diagnosed.
What is FH?
FH is a genetic mutation that affects the liver’s ability to remove low density lipoprotein, colloquially known as “bad” cholesterol, from the blood. As most people know, high levels of bad cholesterol are a serious risk factor for heart disease and other major cardiovascular problems. Without the ability to remove it from the blood as needed, people with the FH mutation are at serious risk of developing these problems at a much earlier age than is typical.
Though many people don’t have major symptoms, some potential indicators that an individual should consider testing their cholesterol and investigating the possibility of FH include fatty skin deposits (xanthomas), cholesterol deposits in the eyelids (xanthalasmas), a greyish “ring” around the cornea of the eye (corneal arcus) and chest pain (angina). One should also look out for other signs related to coronary artery disease, particularly if they are experienced at an abnormally young age. A cholesterol test and a family history are the first diagnostic steps. Genetic testing ispossible, but not necessary, for the diagnosis of FH.
What is FH caused by?
FH is caused bya genetic mutation, but unlike many other familiar genetic abnormalities, like cancer, it isn’t caused by environmental factors. The FH mutation is entirely heritable. Moreover, it is an autosomally dominant trait, which means that only one parent needs to pass the mutation on for the offspring to have FH. It is still possible that both parents may pass the FH mutation down. These rare cases are known as homozygous FH, and they are extremely serious, often leading to heart related deaths before age 30, if not aggressively treated. Further, because FH is inherited, it is important to test the family members of anyone who is diagnosed with it.
What is FH treated with?
FH is targeted in a number of different ways. The first is lifestyle changes. People with FH should exercise, manage their weight, and eat a heart-healthy diet. Second, doctors are likely to prescribe medication targeted primarily at reducing bad cholesterol levels. In serious cases, and in essentially all cases of homozygous FH, they may prescribe apheresis, potentially on a biweekly basis. Apheresis is a process, much like dialysis, by which blood is removed from the body and LDL is filtered out.
To learn more about FH or find out how to get involved in raising FH awareness, visit The FH Foundation.