According to a story from the FH Foundation, the non-profit organization has released a vital consensus statement regarding the diagnosis of familial hypercholesterolemia, which is the most prevalent genetic cause of heart disease. The statement primarily addresses genetic testing, which is an essential part of diagnosing the condition. The statement was originally released in the Journal of the American College of Cardiology.
About Familial Hypercholesterolemia
Familial hypercholesterolemia (FH) is a genetic disorder which is characterized by abnormally high levels of low density lipoprotein (LDL) in the blood, which can cause early onset heart disease. There are several heritable genetic mutations that can cause the disorder to appear. While high cholesterol does not cause symptoms itself, deposits of the substance may be noticeable in certain areas, such as the outer margin of the iris, above the eyelids, and within the tends of the arms and legs. Patients are at a greater risk of potentially life-threatening cardiovascular disease, such as heart attack and stroke. People who have diabetes, smoke, and have high blood pressure are at even greater risk. Treatment may involve high dose statins in many cases, but they are not always sufficient to bring LDL levels down, and may be supplanted with other medications. To learn more about familial hypercholesterolemia, click here.
The Consensus Statement
The statement highlights the value of diagnosing the condition early in life, ideally in childhood before symptoms appear, as they can occur quite early on in severe cases. Early treatment can substantially reduce the risk of future emergencies such as heart attacks. The report also emphasizes the need to determine the exact mutation that causes the disorder in each case. This can help predict how the condition should be treated and if stronger than normal medications should be taken into consideration.
Underdiagnosed
Familial hypercholesterolemia is a notoriously underdiagnosed disease. Many patients live without the knowledge that they even have it. The FH Foundation’s statement recommends that anyone with high LDL cholesterol and a family history of high cholesterol or early heart attacks should get tested for the condition. The statement also notes that a genetic test is not essential for diagnosis.
To check out the abstract for the statement, click here. If you would like to watch a video about the statement, click here.