Familial Hypercholesterolemia

Causes

FH is caused by a gene problem that is passed from parents to children. It can come from one or both parents. FH can be severe if both parents pass the gene to their child.

The gene problem makes it hard for the liver to remove LDL cholesterol from the blood.

The Liver and Other Organs

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Risk Factors

A parent will not always pass the gene problem to their child. If one parent has the gene problem, it raises the child's risk of FH. If both parents have the gene problem, the child's risk of FH is even higher.

Symptoms

FH itself does not cause symptoms. But high levels of LDL can lead to:

• Thick and painful tendons
• Xanthomas—fatty deposits under the skin
• Xanthelasmas—fatty deposits on the eyelids
• Eye problems—due to fatty deposits on the cornea

FH raises the risk of heart and blood vessel disease at a young age. This can lead to:

• Atherosclerosis
• Angina
• Coronary artery disease (CAD)
• Heart attack
• Stroke
• Early death

Diagnosis

The doctor will ask about symptoms and health history. A physical exam and blood tests will be done. To diagnose FH, the doctor will look for:

• Fatty deposits in skin, tendons, or eyes
• High cholesterol, especially in a young person
• Family history of high cholesterol
• Genetic testing

More tests may be done to rule out other conditions.

Treatment

The goals of treatment are to:

• Lower LDL levels
• Lower the risk of problems such as heart disease or stroke

FH will need lifelong treatment. Treatment options include:

Lifestyle Changes

To help lower cholesterol levels, the doctor may advise:

• A diet that is
  • Low in saturated fats and cholesterol
  • High in grains, fruits, vegetables, nuts, and legumes
  • Low in alcohol
• Regular physical activity
• Not smoking
• Reaching and keeping a healthy weight

Medicine

Diet and exercise may reduce LDL levels enough. Medicines may be given to lower LDL cholesterol. Options may be:

• Statins
• Alirocumab or evolocumab

Other Treatments

Severe forms of FH may need:

• Apheresis—a machine that pulls LDL out of the blood
• Liver transplant—if medicine does not work

Prevention

FH cannot be prevented.