Overview
What is familial hypercholesterolemia
Familial hypercholesterolemia (FH) is a rare genetic disorder that involves extremely high amounts of cholesterol in the blood, especially low-density lipoprotein (LDL). Because high LDL is one of many risk factors associated with heart disease, LDL is often called “bad” cholesterol. Patients with FH are unable to effectively remove the bad cholesterol from the blood which increases their risk of stroke and heart disease. Familial Hypercholesterolemia can be caused by inheriting one or more different defects from each parent (heterozygous - HeFH), or two copies of the same defect, one from each parents (homozygous - HoFH). Homozygous patients and patients with multiple defects tend to experience more serious complications compared to patients with a single defect. Without treatment, risk of death from heart disease is nearly double that of same-aged people. In those with HoFH, heart disease can occur in early adulthood (20s and 30s). Traditional lifestyle recommendations (heart-healthy diet, not smoking, exercise, etc) and typical cholesterol-lowering medications (such as statins) are not enough to control cholesterol levels in FH patients. In some cases, special medications for HoFH are necessary. Additionally, a procedure called apheresis may be done to periodically filter cholesterol out of the blood (similar to dialysis).
How common is familial hypercholesterolemia
Heterozygous FH occurs in approximately 1 in 300 to 500 people. Homozygous FH is very rare, affecting approximately 1 in 1 million Americans.1
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- 1Goldberg, Anne C., et al. "Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia." Journal of clinical lipidology 5.3 (2011): S1-S8.
Symptoms
What are the symptoms of familial hypercholesterolemia
Signs and symptoms of Familial Hypercholesterolemia may include:
- Xanthomas (fat build up under the skin)
- Corneal arcus (fat deposits around the cornea of the eye)
- Heart valve stiffness
- Extremely high LDL-cholesterol (LDL ≥190 mg/dL in children or ≥220 mg/dL in those 20 or older)
- Chest pain or angina
Note: Some patients have no outward symptoms of high cholesterol
How is it diagnosed
Physical examination, personal and family history, genetic testing, and blood cholesterol levels are crucial in screening for, diagnosing and managing familial hypercholesterolemia.
Medications
Familial hypercholesterolemia
The following specialty medications are available at Accredo, a specialty pharmacy for familial hypercholesterolemia.
Financing Your Care
Financial assistance is available to support your drug costs including manufacturer and community programs. Accredo specialists are available to assist in finding the right program(s) for you.
- Healthcare enrollment for those without coverage
- Medicare Drug Coverage
- Juxtapid Compass® 855-898-2743
Financial Guidance
Life-saving specialty medication can be expensive. Learn how the Accredo teams help individuals find ways to afford the medication they need to survive in this video.
Find Support
There are many organizations that support research and advocacy for familial hypercholesterolemia as well as patient information on heart disease. See below for a few of those organizations.
Support Organizations
- The FH Foundation
- The Foundation of the National Lipid Association
- National Organization for Rare Disorders
- American Heart Association
Government Organizations
Meet the Team
Accredo’s familial hypercholesterolemia care team is dedicated to serving you and we understand the complexity of your condition. Our specialty-trained clinicians are available 24 hours a day, seven days a week, to answer any questions.
Why We Do It
Accredo supports patients with chronic and complex conditions and helps them live their best life. Watch our video to learn why we do what we do for our patients.