Symptoms of HeFH

When you have heterozygous familial hypercholesterolemia (HeFH), you don't always have obvious symptoms. The main way it affects you is to send your LDL "bad" cholesterol numbers way up.

HeFH makes it harder for your body to remove cholesterol -- a fatty, waxy substance that builds up in blood vessels. It's a disease you're born with, and the effects start early in your life. Over time, it can damage blood vessels and lead to heart disease if you don't get any treatment.

Get Your Numbers Checked

HeFH causes very high LDL and total cholesterol levels. Your doctor will give you a blood test to find out what your numbers are.

A normal LDL cholesterol level is lower than 130 milligrams per deciliter (mg/dL). But if you've got HeFH, you can have an LDL level as high as 250 mg/dL.

Besides high cholesterol, watch out for these other symptoms of heterozygous familial hypercholesterolemia:

Xanthomas

These are bumps under your skin that form when extra cholesterol in your blood clumps together. They're usually yellow or orange.

You're most likely to see them in your tendons, especially in the Achilles tendon in the back of your heel and in the joints of your hands.

Sometimes these growths can also form on your:

  • Hands
  • Elbows
  • Knees
  • Feet
  • Buttocks

Some xanthomas may be very small. Others may grow as large as 3 inches. Smaller bumps can join together to form larger growths. They don't necessarily cause pain, but it depends on their location.

Achilles Tendinitis

When xanthomas form in your Achilles tendon, they can cause Achilles tendonitis -- pain, stiffness, and swelling in the back of the heel.

Xanthelasmas

These are xanthomas that grow on your eyelids. They're yellow and form near the inner corner of your eye, often on the upper lid.

You'll usually see the same shaped growth on both the left and right eyelids. They can get larger over time and may be permanent.

Corneal Arcus

It's a condition you get when cholesterol forms deposits around the outside of your cornea -- the clear cover over the front of your eye.

It looks like a white or gray ring around the iris -- the colored part of your eye. It won't affect your vision.

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Heart Disease Symptoms

Cholesterol can build up in your arteries -- the blood vessels that carry oxygen from your heart to the rest of your body. If you don't take steps to lower your cholesterol -- and you have other risks like smoking and high blood pressure -- you can develop heart disease. If that happens, one of the main symptoms is chest pain called angina. Without any treatment, it can lead to a heart attack or stroke.

Get emergency medical help right away if you have warning signs of a stroke, including:

  • Trouble speaking
  • Weakness in your arm or leg
  • Drooping of your face on one side
  • Loss of balance

Also get medical help right away if you have symptoms of a heart attack:

  • Pressure, squeezing, or pain in your chest
  • Pain in your upper back or neck
  • Pain that radiates down the arms
  • Nausea, vomiting
  • Shortness of breath
  • Fatigue
WebMD Medical Reference Reviewed by Suzanne R. Steinbaum, MD on April 14, 2019

Sources

SOURCES:

Al-Rasadi, K. Oman Medical Journal, March 2014.

American Academy of Orthopaedic Surgeons: "Achilles Tendinitis."

American Heart Association: "Spot a Stroke."

Beeharry, D. Annals of Rheumatic Disease, March 2006.

Cleveland Clinic: "What Do Cholesterol Levels Mean."

DermNet New Zealand: "Xanthomas."

FH Foundation: "Heterozygous vs Homozygous FH."

Medscape: "Familial Hypercholesterolemia," "Managing Common Eye Conditions in the Pharmacy," "Xanthelasma."

National Heart, Lung, and Blood Institute: "What Are the Symptoms of a Heart Attack?"

National Human Genome Research Institute: "Learning About Familial Hypercholesterolemia."

NIH: "Measuring Cholesterol Levels."

University of Iowa Healthcare: "Corneal Arcus."

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