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Familial Hypercholesterolemia (FH) is usually an “invisible” disease. By this we mean that often people do not show visible signs of FH.

How Do I Know I Have Familial Hypercholesterolemia?

There are two main indicators of an FH diagnosis:

  • High levels of LDL-cholesterol*, which do not go down with diet and exercise;
  • Family history of early heart disease and/or heart attacks.

Think through your family history – is high cholesterol common in your family? Have any of your loved ones suffered from early heart disease or heart attack? Early would mean younger than 55 in men and younger than 65 in women. If so, FH is a possibility.

* Familial Hypercholesterolemia is suspected when LDL-cholesterol is above 190 mg/dL in adults and above 160 mg/dL in children without cholesterol-lowering treatment

Sometimes there are visible signs of FH, especially when the LDL-cholesterol is very high. These include:

  • Bumps or lumps around the knuckles, elbows, and knees, called “xanthomas”. These are formed when excess cholesterol deposits on tendons or under the skin. They may be noticed by a dermatologist.
  • Thickened and sometimes painful Achilles tendons (“tendon xanthomas”). Excess cholesterol may deposit in the tendons, which makes them enlarged and may cause pain when wearing shoes.
  • Yellowish areas around the eyes (“xanthelasmas”) or a white arc near the colored part of the eye (“corneal arcus”). These may be noticed by an eye doctor.

Is There a Specific Test for FH?

Usually, your LDL-cholesterol levels and family medical history are enough for a clinical diagnosis of FH. You’ll get your LDL levels on a standard “lipid panel” done at your healthcare provider’s office or local laboratory. The family history will come from a series of questions your healthcare provider will ask about your family’s health.

An FH diagnosis can be confirmed by a genetic test. Consult a cardiologist, lipid specialist (expert in cholesterol disorders), or genetic counselor if you’re interested in obtaining a genetic test. It is important to note that a negative genetic test does not rule out FH in a person who clinically has FH. Over 1,000 genetic causes of FH have been found and we continue to find more each year. So, it is possible that a person can have FH, but the genetic cause of their FH has not yet been discovered.

The main difference between familial hypercholesterolemia and lifestyle-induced high cholesterol is the “familial” part. In other words, FH is inherited high cholesterol; it is not caused by eating too many burgers! This is why it is extremely important that you are aware of your family’s medical history, and you report it to your physician.

Having trouble finding the right physician to help you on your FH journey? Reach out to our Care Navigators – they are always here to help!

I Have FH. What Now?

Begin Treatment

Although risk factors like diet and lifestyle should be addressed, people with FH require early, aggressive, and lifelong treatment.

Medical guidelines from the American College of Cardiology and the American Heart Association in 2018 give clear recommendations for the LDL Safe Zone based on risk factors.

  • These guidelines recommend an LDL level below 100 mg/dL for everyone except for those with cardiovascular disease.
  • For someone who already has cardiovascular disease (CVD), no matter their untreated LDL level, the recommendation is to get LDL below 70 mg/dL.
  • For people with CVD and multiple cardiac risk factors, the more recent 2022 guidelines recommend getting the LDL to below 55 mg/dL

Today, there are multiple treatments for FH available and several more in development. You can learn about FH treatment options here and HoFH treatments here.

Family Screening

It is important to remember that FH runs through families. If you have FH, then each of your close family members has a 50% chance of also having FH. This includes parents, siblings, and children. This means that if you were diagnosed with FH, but don’t know of anyone else in your family who has it, your whole family should get tested.

In basic terms, every time you have a child, it’s a flip of the coin whether they will have FH or not. So, the question isn’t “Does anyone else in my family have FH?” – it’s “Who else in my family has FH?”