Inherited genetic disorders are a major reason why some people suffer from certain medical conditions. For example, chronically high levels of low density lipoprotein (LDL)—also called “bad cholesterol”—can pass from generation to generation. In some cases, the inherited high cholesterol amounts to more than just high LDL readings—it also constitutes a disorder known as familial hypercholesterolemia (FH), a potentially deadly condition passed down through family genes.

What Is Familial Hypercholesterolemia?

Familial hypercholesterolemia is an inherited high cholesterol disorder that results in chronically high levels of LDL and poses health risks such as heart attacks, strokes, or heart disease. A person with untreated FH often experiences these problems long before they would normally occur in an unaffected person. It is important to make an appointment with an FH specialist to get tested as soon as possible if you experience any of the following signs or risk factors for FH:

• Family history of Cardiovascular disease
• Unusually high LDL readings
• above 190 mg/dL in adults
• above 160 mg/dL in children
• Cholesterol deposits on the body
• Strokes at a young age
• Heart attacks at a young age
• Chest pain for unknown reasons

Possible tests for diagnosing FH include lipid measurements and gene mutation analyses. By conducting these procedures, an FH specialist can determine whether you have FH and what type you have. The two types of FH include heterozygous FH, which occurs from inheriting the disorder from one parent, and homozygous FH, which occurs from inheriting the disorder from both parents. The type of FH a person has determines which course of treatment will be most effective.

How Is the Disorder Treated?

Generally less severe than its homozygous counterpart, heterozygous FH is usually much easier to treat. Cholesterol-lowering drugs, bile acid sequestrants, and lifestyle changes can dramatically lower the risk of heart disease associated with FH. Homozygous FH is resistant to these treatments and must be addressed with other approaches, such as LDL apheresis or—in rare cases—a liver transplant. An FH specialist will determine the appropriate course of treatment according to the type of FH present in the patient.

Early Treatment Works Best

Inherited high cholesterol poses a significant health risk when left untreated. Unfortunately, nearly 90% of people with FH go undiagnosed and fail to receive the treatment they need. Because heart attacks and strokes resulting from FH can occur as early as one’s thirties, twenties, or even in childhood, the key is early assessment, diagnosis, and treatment.

How We Help

the Family Heart Foundation is a non-profit organization that raises awareness of FH through education, advocacy, and research. We also offer an Advocates for Awareness Program where volunteers diagnosed with FH work to bring attention to the disorder. In addition, our CASCADE FH™ Registry is available to FH patients who would like to contribute to the understanding of FH. Join our organization today, and give your support to a worthy cause.