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Cornerstone Health Solutions is dedicated to supporting you through your familial hypercholesterolemia treatment. We are committed to helping you with financial assistance, providing you with thorough medication education, helping keep you on track, and being fully available to you to answer questions.

What is familial hypercholesterolemia?

Familial hypercholesterolemia is a genetic disorder that causes you to have extremely high levels of LDL (bad) cholesterol in your blood. This high level of cholesterol puts you at an increased risk of experiencing heart attacks, strokes, and other heart problems. Most often patients with familial hypercholesterolemia will not show any symptoms. However, if they do, symptoms would include:

  • Xanthomas (cholesterol pockets that form lumps around knuckles, elbows, and knees)
  • Tendon xanthomas (cholesterol pockets sitting on tendons causing swelling and pain)
  • Xanthelasmas (yellowish areas around the eyes), corneal arcus (white arc near colored part of eye)

What causes familial hypercholesterolemia?

Normally, our liver produces the majority of our body’s cholesterol. Our liver is also responsible for removing or reusing the cholesterol it produces when we have too much. Patients with familial hypercholesterolemia have an abnormal gene that stops the liver from being able to recognize that we have too much cholesterol and stops it from removing or reusing it. This causes the liver to continuously produce cholesterol, leading to the extremely high levels of LDL that we see in patients with familial hypercholesterolemia.

Familial hypercholesterolemia is a disorder passed down to children from their parents through genes. You only need one familial hypercholesterolemia gene to develop the condition. This is called heterozygous familial hypercholesterolemia (HeFH). If both parents have familial hypercholesterolemia, children are at an increased risk of receiving two familial hypercholesterolemia genes. This is called homozygous familial hypercholesterolemia (HoFH) and is a more severe form of the disorder.

What specialty medications do you offer to treat familial hypercholesterolemia?

  • Praluent
  • Repatha

What should I expect from treatment?

Unfortunately, diet and lifestyle changes alone cannot substantially reduce cholesterol levels in patients with familial hypercholesterolemia and most patients with this condition will need some form of medical treatment. Most treatments start with one or a combination of oral medications (mainly statins) that work to lower your cholesterol. However, sometimes these combinations alone cannot reduce your cholesterol enough. This is when your provider may decide that you need to add a specialty medication to your treatment. The two specialty medications currently available to treat familial hypercholesterolemia are both injections that go under your skin (subcutaneous). You can inject these medications yourself at home and depending on what your doctor prescribes you will have to do this once every 2 or 4 weeks. Please contact us if you have any questions on how to properly inject yourself under the skin. The most common side effects that you may experience from these medications include the common cold and reactions at the injection site. If these side effects become unmanageable, or you experience any other side effects, contact your provider.

What happens if I don’t get treated?       

Babies with familial hypercholesterolemia begin producing high levels of cholesterol before they’re even born. Because of this, patients with familial hypercholesterolemia have a 20 times higher risk of developing aggressive heart disease and experiencing heart attacks, strokes, and other serious complications if left untreated. However, diagnosis and treatment can lead to a normal life span. It is important to remember that in order to get the most out of your treatment you should quit smoking, eat a healthy diet, and get regular exercise.

 

To learn more about familial hypercholesterolemia visit the following resources:

https://thefhfoundation.org/

https://rarediseases.org/rare-diseases/familial-hypercholesterolemia/

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