This Inherited Condition Causes High 'Bad' Cholesterol From Birth

When it comes to cholesterol, certain types can put your heart health at risk. Low-density lipoprotein, or LDL cholesterol, can build up in your arteries and slow blood flow to your heart. If that blood flow gets blocked, it can lead to a heart attack. That's why LDL is often called the "bad" cholesterol.

Lowering high LDL cholesterol typically involves habits like eating a diet low in saturated fat and high in soluble fiber. Quitting smoking and staying active also help. But for some people with familial hypercholesterolemia (FH), LDL levels stay high no matter how healthy their lifestyle. That's because FH is a genetic disorder that's passed down from one or both parents.

Most people's bodies can remove LDL cholesterol from the blood, but people with FH can't do this efficiently. As a result, 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.

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 get 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 identify whether a child has inherited the FH-related gene variant.

If FH goes untreated, symptoms of very high LDL cholesterol can eventually appear. These may include cholesterol deposits around the eyelids or fatty lumps on the hands, elbows, or knees. Some people may also experience swelling or pain in the Achilles tendon due to the cholesterol depositing in that area.

People with FH need to manage their condition to prevent cholesterol from building up in their arteries and restricting blood flow. This buildup is called atherosclerosis and can eventually lead to arteriosclerosis, a condition 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 effective enough on their own, and some people can't tolerate high doses of these cholesterol medications due to side effects like diarrhea, joint pain, or headaches. In these cases, cholesterol absorption inhibitors such as 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 people who can't tolerate statins, PCSK9 inhibitors offer a newer treatment option, and more cholesterol-lowering treatments that work differently are being developed.