Familial hypercholesterolemia
Familial hypercholesterolemia (FH) is an inherited condition that causes high cholesterol.
What is familial hypercholesterolemia?
Familial hypercholesterolemia (FH) is an inherited condition that causes high LDL cholesterol, or “bad cholesterol.” It’s often due to a change, or mutation, in one of your genes.
Other factors can also cause FH. For instance, your doctor might make an FH diagnosis based on your LDL cholesterol level, physical exam findings and family history.
Gene changes that can lead to familial hypercholesterolemia
- APOB gene change: The APOB gene helps your LDL cholesterol be found and captured by the LDL receptor.
- LDLR gene change: The LDLR gene helps your cells capture LDL cholesterol from the bloodstream.
- PCSK9 gene change: The PCSK9 gene helps your cells break down LDL cholesterol.
When these genes are changed or aren’t working like they should, high levels of blood cholesterol can block your arteries and lead to dangerous conditions like heart disease, heart attack and stroke. You can reduce your risk of developing these conditions with proper medical interventions treatment, including medication and healthy lifestyle habits.
How familial hypercholesterolemia increases your risk
All people with untreated FH have a higher risk of heart attacks and strokes as younger adults. People with FH who also have a change in their genes are at even higher risk. Since it's inherited and passed down to family members, it’s important to let your family know you have this condition.
Familial hypercholesterolemia and pregnancy
Talk with your doctor if you’re thinking of becoming pregnant or are pregnant before you start or stop any therapies.
Living with familial hypercholesterolemia
Be sure to speak with a provider who specializes in FH. If you have a genetic change in APOB, LDLR, or PCSK9, they can help you manage your risk to reduce your chance of a future heart attack or stroke.
Healthy interventions may include:
• Closely monitoring your cholesterol levels.
• Starting therapy to lower high cholesterol and reduce your risk of a heart attack or stroke.
• Managing other risk factors for heart diseases, like high blood pressure and diabetes.
• Making healthy lifestyle changes, such as eating a heart-healthy diet, getting regular exercise, managing your weight and not smoking.
• Medical tests to check for existing heart or blood vessel disease.
What does this mean for my family?
If you have FH, your blood relatives should receive genetic testing. A genetic counselor or doctor can help to arrange the testing.
Your blood-related family members may have the same genetic change. In fact, your close blood relatives, including children, siblings and parents, have a 50 percent chance of having the same genetic change. More distant blood relatives may also be at risk.
In a few families, one person may have two FH-related gene changes — one inherited from each parent. This causes a more severe form of familial hypercholesterolemia, called homozygous familial hypercholesterolemia.
If your blood relatives have FH, they should begin treatment to prevent heart issues.
Your children should receive testing for their specific variant to learn if they inherited the risk for FH or not. Their cholesterol levels should also be checked when they are as young as 2 years old. If their cholesterol levels are high, they should see a lipid specialist.
Resources
Patient resources
• The Family Heart Foundation: A nonprofit foundation dedicated to research, advocacy and education on all forms of familial hypercholesterolemia.
• The Foundation of the National Lipid Association: Supports education, research and community outreach related to cholesterol.
• International Atherosclerosis Society (IAS) guidance: Guidance from international experts on familial hypercholesterolemia to inform screening, diagnosis and management of pediatric and adult patients.
Find a provider who understands familial hypercholesterolemia
If you have FH, talk to:
- A genetic counselor
- A lipid specialist or clinician with expertise in FH (often through cardiology)
- Your primary care provider