Familial Hypercholesterolemia (FH)

For Patients

Who Is at Risk?

Familial hypercholesterolemia (FH) is often diagnosed using lab results and family history. High levels of LDL cholesterol that do not reduce to normal levels following alterations to one’s lifestyle and diet are common among those diagnosed with FH. Additionally, those with FH often have a family history of high cholesterol and early heart disease and/or heart attacks.

Individuals with family members that are diagnosed with FH may also have this condition. Because FH is a genetic condition, it can be inherited. The children of those with FH have a 50% chance of inheriting the condition. In the rare case that both parents of the child have FH, the child can have a more severe form of FH called homozygous familial hypercholesterolemia (HoFH). Therefore, it is crucial to screen first degree relatives (parents, siblings, and children) when one family member is diagnosed.

Symptoms of FH

Some individuals with FH may display physical symptoms due to high levels of LDL cholesterol in the bloodstream. These include the following:

  • A white or gray arc near the colored part of the eye
  • Yellowish areas around the eyes
  • Bumps or lumps around the knees, knuckles, or elbows due to cholesterol deposits under the skin
  • Painful Achilles tendon or tendons in hands due swelling of tendons from cholesterol deposits

Teating FH

Due to a genetic mutation, individuals with FH have abnormally high LDL cholesterol levels. As a result, lifestyle interventions, such as alterations to exercise and diet patterns, cannot alone adequately lower LDL levels to a normal range. Instead, a combination of lifestyle changes and medication are required to significantly lower LDL cholesterol levels. Treatment usually involves statins, which are drugs that lower cholesterol, and injectable medications called PCSK9 inhibitors, which help remove cholesterol from the blood. When done together, regularly taking medication, maintaining a heart-healthy diet, and exercising regularly can greatly reduce the risk of having a heart attack or stroke.