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What are the signs and symptoms of familial hypercholesterolemia (FH)?

The main red flags are having:

  • Very high levels of LDL-cholesterol (over 190 mg/dL) that don’t improve much with exercise, healthy eating or certain medications
  • A family history of very high cholesterol or family members who developed heart disease, had a heart attack or died at young ages

For some people with FH, a heart attack, stroke or dying suddenly and at a young age may be the first sign. That’s because high cholesterol itself typically doesn’t cause signs or symptoms. Over time, as more cholesterol builds in the blood vessels, it can narrow or block arteries limiting blood flow.

 Heterozygous FH (more common, one FH gene)Homozygous FH (less common, two FH genes)
Typical LDL LevelsOver 190 mg/dL for adults
Over 160 mg/dL for children 
Over 400 mg/dL

Other signs of FH may include:

  • Evidence of cholesterol buildup in the heart’s arteries, such as seen in a coronary artery calcium (CAC) scan or other early detection test.
  • Peripheral artery disease, which is when cholesterol builds up in arteries in the legs, which may result in discomfort or pain upon walking that usually subsides when resting
  • Carotid artery disease, which is a narrowing of the blood vessels in the neck that carry blood from the heart to the brain
  • Nodules or raised bumps on your skin or tendons (called xanthomas)
  • Bumps on your upper or lower eyelids (called xanthelasma)
  • White, blueish or yellowish cholesterol deposits that form a ring around the cornea of the eye
  • Last Edited 03/09/2022