Familial hypercholesterolemia (FH), also known as pure hypercholesterolemia, refers to a condition in which people have a genetic tendency for high cholesterol or high lipid levels. High cholesterol can boost a person’s chances for developing heart disease and other conditions. An excess of fatty deposits in blood vessels can make it hard for blood to flow through arteries. An excess of triglycerides could lead to pancreatitis.

As a result, the heart may not get as much oxygen-rich blood as it needs, which may cause a heart attack. If there is lower flow to your brain due to fatty deposits, a stroke can occur.

Knowing this, many people are focused on keeping their cholesterol levels in check. There are several things a person can do to maintain healthy cholesterol levels, such as eating and exercising. When needed, medication is available as well.

Do You Have Hypercholesterolemia?

A blood test can detect if you have FH. This test is also known as a lipid profile. You will have to fast for the blood test to get the best results. That means do not eat for eight to 12 hours before the test.

A lipid profile will check your blood for the following:

  • total cholesterol
  • low-density lipoprotein (LDL), or “bad” cholesterol
  • high-density lipoprotein (HDL), or “good” cholesterol
  • triglycerides, which are a type of fat in the blood

In the United States, cholesterol levels are measured in milligrams (mg) of cholesterol per deciliter (dL) of blood. Knowing your numbers can help you and your doctor put together a treatment or intervention plan if needed.

Know Your Numbers

Ideally, your levels should be:

Total Cholesterol

  • good: 200 mg/dL
  • borderline: 200 to 239 mg/dL
  • high: 240 mg/dL

LDL Cholesterol

  • good (for people with heart disease): below 70 mg/dL
  • good (for people at risk for heart disease): below 100 mg/dL
  • good: 100 to 129 mg/dL
  • borderline: 130 to 159 mg/dL
  • high: 160 to 189 mg/dL
  • very high: 190 mg/dL or above

HDL Cholesterol

  • poor (men): 40 mg/dL or below
  • poor (women): 50 mg/dL or below
  • better: 50 to 59 mg/dL
  • ideal: 60 mg/dL and above


  • best: 150 mg/dL or below
  • borderline: 150 to 199 mg/dL
  • high: 200 to 499 mg/dL
  • very high: 500 mg/dL and above

According to the American Heart Association (AHA), a triglyceride level of 100 mg/dL or below is considered "optimal." That level would improve heart health, they claim.

Risk Factors

There are a few ways to tell if you may be at a higher risk for blood vessel disease and/or high cholesterol.

Smoking can predispose the walls of your blood vessels to accumulate fat deposits and lower your HDL cholesterol.

Another risk factor is obesity. People who have a body mass index (BMI) over 30 are more likely to have high cholesterol. Similarly, a large waist circumference can be a telltale risk factor. Men with waists more than 40 inches, and women with waists over 35 inches, are at risk for having high cholesterol.

Diet and exercise are also extremely important. Dairy products with full fat, along with many red meats and processed foods that are made with hydrogenated fats, can increase total cholesterol levels. Saturated fat, which is commonly found in animal products along with trans fats, can boost LDL cholesterol levels. If you do not exercise, that also ups your risk.

People with diabetes are also at risk for having high cholesterol. Having high blood sugar can contribute to higher LDL and lower HDL levels. High blood sugar can also lead to high triglyceride levels.

The Genetic Factor

Genetic tests can be conducted to see if you have the genetic markers for FH.

Inherited mutations in the LDL receptor gene cause familial hypercholesterolemia. A person with heterozygous FH had one parent contribute to their genetic mutation; a person with homozygous FH gets their condition from both parents.

Either type of FH is deadlier than acquired high cholesterol (meaning due to other conditions), according to a 2010 study. Researchers found that people with heterozygous FH tend to have a total cholesterol count of 300 to 400 mg/dL and LDL counts exceeding 200 mg/dL. Those with homozygous FH have total cholesterol levels over 1,000 mg/dL.

Outlook and Treatment

People who have their cholesterol checked and if needed seek appropriate treatment can live a healthy life. Treatment can include diet changes, exercise, or medication. It may involve a combination of all three.

Homozygous FH carries more risks than heterozygous FH, and can cause heart attacks as early as in the late teens. Most people, though, do not have that condition and can go on to manage their high cholesterol.