Doctors often prescribe a healthy diet and regular exercise to help prevent a variety of disorders, including high cholesterol. However, there are some situations where diet and exercise alone have little to no effect on high levels of low density lipoprotein (LDL), also known as “bad cholesterol.” This situation is particularly common among people who have familial hypercholesterolemia (FH); nevertheless, there are still medical options for dealing with the condition.

What Is Familial Hypercholesterolemia?

FH is a hereditary high cholesterol disorder in which each parent has a 50% chance of passing the condition down to their child. When FH is inherited from one parent, it is known as heterozygous hypercholesterolemia. When the disorder is inherited from both parents, it is known as homozygous hypercholesterolemia. Both types of FH cause high cholesterol and can lead to premature heart disease, strokes, and heart attacks, but homozygous FH is usually considered more severe and aggressive.

Heterozygous FH typically causes premature cardiac events. In fact, individuals with FH have a 20 times higher risk of heart disease than individuals without FH. Homozygous FH can cause problems as early as childhood. This is why it is important for parents with FH to have their children tested as soon as possible. The sooner a diagnosis is made, the more effectively the condition can be treated.   

Diagnosing Familial Hypercholesterolemia   

90% of people who have hereditary high cholesterol have not been diagnosed. In many cases, this is because the disorder imitates a standard case of high cholesterol and is consequently treated with standard therapies inadequate for FH. Signs that high LDL readings may be more than a common case of high cholesterol are:

• Family history of FH
• Cholesterol deposits on body
• Strokes at young age
• Heart attacks at young age
• Chest pain for unknown reasons

If you experience any of these signs and symptoms, schedule an appointment with an FH specialist as soon as possible to begin the testing process for hereditary high cholesterol. If you test positive for FH, commencing an effective treatment regimen right away could significantly reduce the risk of premature cardiac problems.

Treating Familial Hypercholesterolemia   

Treatment for heterozygous FH often begins with a heart healthy diet and regular exercise and usually involves cholesterol-lowering drugs. However, these treatments often fail to have a significant impact on homozygous FH. Homozygous FH is often treated with LDL apheresis. In rare cases where the disorder proves resistant to such treatments, a liver transplant is a viable option. Promising new developments offer more options for the treatment of homozygous FH.  Two new treatments, mipomersen and lomitapide, have recently been approved by the FDA for the treatment of homozygous FH.

How We Help

the Family Heart Foundation is committed to spreading information and awareness about FH through educational opportunities, advocacy, and scientific research. You can contribute to our cause by donating and volunteering to help our foundation. We also offer the CASCADE FH™ Registry, where FH patients can register and contribute to the understanding of the disorder. Working together, we can spread information about FH and help save lives.