When it comes to cholesterol, certain types can put your heart health at risk. Low-density lipoprotein, or LDL cholesterol, can accumulate in your arteries and impede blood flow to your heart. If that blood flow becomes obstructed, it can lead to a heart attack. That’s why LDL is often termed the “bad” cholesterol.
Reducing high LDL cholesterol usually involves habits such as consuming a diet low in saturated fat and high in soluble fiber. Quitting smoking and maintaining an active lifestyle also help. However, for some individuals with familial hypercholesterolemia (FH), LDL levels remain high regardless of their healthy lifestyle. This is because FH is a genetic disorder inherited from one or both parents.
Most people’s bodies can efficiently remove LDL cholesterol from the blood, but individuals with FH can’t do this effectively. Consequently, their LDL levels can be unusually high, even at a young age. According to the American Heart Association, children who inherit this genetic mutation from both parents could have LDL cholesterol levels reaching 400 milligrams per deciliter (mg/dL). Left untreated, children as young as 2 years old can develop heart disease.
Why detecting FH matters
About one in 250 people has FH, according to the Centers for Disease Control and Prevention. Without proper treatment, 30% of women with FH have a heart attack by age 60. For men with uncontrolled FH, 50% experience a heart attack by age 50. FH is typically treated with statins or other cholesterol-lowering medications, which can reduce the risk of coronary artery disease by up to 80%. In some cases, even children as young as 8 may need statin therapy.
Like others with high cholesterol, people with FH usually don’t notice anything is wrong unless they undergo a cholesterol blood test. Their LDL cholesterol levels are high, but their triglyceride levels may be normal. If a parent has FH, a genetic test can help determine whether a child has inherited the FH-related gene variant.
If FH goes untreated, symptoms of very high LDL cholesterol can eventually manifest. These may include cholesterol deposits around the eyelids or fatty lumps on the hands, elbows, or knees. Some individuals may also experience swelling or pain in the Achilles tendon due to cholesterol depositing in that area.
Treating familial hypercholesterolemia
Individuals with FH need to manage their condition to prevent cholesterol from accumulating in their arteries and restricting blood flow. This accumulation is called atherosclerosis and can eventually lead to arteriosclerosis, where the arteries become thick and stiff. According to a 2019 article in the Journal of the American Heart Association, this arterial stiffening can begin in adolescents with FH. Children diagnosed with FH are typically treated with statins such as pravastatin to lower their LDL cholesterol. Statins are also recommended for adults with FH to reduce their risk of cardiovascular events.
However, statins aren’t always sufficiently effective on their own, and some individuals can’t tolerate high doses of these cholesterol medications due to side effects like diarrhea, joint pain, or headaches. In such cases, cholesterol absorption inhibitors like ezetimibe can be used alongside statins to further reduce cholesterol levels. These drugs work by blocking cholesterol absorption in the intestines. Bile acid sequestrants may also be prescribed to help the body eliminate cholesterol through the digestive system. For those who can’t tolerate statins, PCSK9 inhibitors offer a newer treatment option, and more cholesterol-lowering treatments that work differently are being developed.
“`
