Familial hypercholesterolemia is an inherited condition that affects the way the body processes cholesterol. As a result, people with familial hypercholesterolemia have a higher risk of heart disease and a greater risk of early heart attack.
The genetic changes that cause familial hypercholesterolemia are present from birth, but symptoms may not appear until adulthood.
There are two types of familial hypercholesterolemia. Heterozygous familial hypercholesterolemia (HeFH) is the more common type. HeFH is inherited from one parent. Homozygous familial hypercholesterolemia (HoFH) is the rare type. HoFH is inherited from both parents.
People who inherit the condition from both parents usually develop symptoms in childhood. If this rare and more-serious form is not treated, death often occurs before age 20.
Treatments for both types of familial hypercholesterolemia include a variety of medicines and healthy-lifestyle behaviors.
Adults and children who have familial hypercholesterolemia have very high levels of low-density lipoprotein (LDL) cholesterol in their blood. LDL cholesterol is known as "bad" cholesterol because it can build up in the walls of the arteries, making them hard and narrow.
This excess cholesterol is sometimes deposited in certain portions of the skin, some tendons and around the iris of the eyes:
A gene alteration that's passed down from one or both parents causes familial hypercholesterolemia. People who have this condition are born with it. This gene alteration prevents the body from ridding itself of the type of cholesterol that can build up in the arteries and cause heart disease.
The risk of familial hypercholesterolemia is higher if one or both parents have the gene alteration that causes it. Most people who have the condition receive one affected gene. But in rare cases, a child can get the affected gene from both parents. This can cause a more serious form of the condition.
Familial hypercholesterolemia can happen in any race or ethnic group, but it may be more common in certain populations, including:
People who have familial hypercholesterolemia have a higher risk of heart disease and death at a younger age. Heart attacks may occur before age 50 in men and age 60 in women. The rare and more serious form of the condition, if not diagnosed or treated, can cause death before age 20.
A detailed family history is an important key to diagnosing familial hypercholesterolemia. Healthcare professionals will be interested to know if your siblings, parents, aunts, uncles or grandparents ever had high cholesterol levels or heart disease, especially during childhood.
During the physical exam, your healthcare team will usually check for cholesterol deposits that may occur in the skin around the hands, knees, elbows and eyes. Tendons in the heel and hand may be thickened, and a gray or white ring may develop around the iris of the eye.
Your healthcare team will likely order blood tests to check your cholesterol levels. The National Heart, Lung, and Blood Institute recommends that a person's first cholesterol screening should occur between the ages of 9 and 11 and be repeated every five years after that. Earlier or more-frequent screenings may be suggested for families with a history of childhood heart disease.
In the United States, cholesterol levels are measured in milligrams (mg) of cholesterol per deciliter (dL) of blood. In Canada and many European countries, cholesterol levels are measured in millimoles per liter (mmol/L).
Adults who have familial hypercholesterolemia usually have LDL cholesterol levels over 190 mg/dL (4.9 mmol/L) or have cholesterol levels that stay high even when on cholesterol-lowering treatments. Children who have the condition often have LDL cholesterol levels over 160 mg/dL (4.1 mmol/L). In more serious cases, LDL cholesterol levels can be over 500 mg/dL (13 mmol/L).
LDL cholesterol also is known as the "bad" cholesterol because it can build up in the walls of the arteries, making them hard and narrow. This can increase the risk of heart attacks.
A genetic test can confirm familial hypercholesterolemia, but it's not always necessary. However, a genetic test can help determine whether other family members also may be at risk.
If one parent has familial hypercholesterolemia, each child has a 50% chance of inheriting it. Inheriting the altered gene from both parents can result in a rare and more serious form of the disease.
If you are diagnosed with familial hypercholesterolemia, healthcare professionals usually recommend that your first-degree relatives — such as siblings, parents and children — be checked for the condition. This allows for treatment to begin early, if needed.
Familial hypercholesterolemia treatment focuses on reducing the extremely high levels of LDL cholesterol, also called the "bad" cholesterol. This helps lower the risk of heart attack and death.
Most people with familial hypercholesteremia need to take more than one medicine to control their LDL cholesterol levels. Options include:
People with more-serious familial hypercholesterolemia also may need to periodically have a procedure that filters the excess cholesterol from their blood. Some may need liver transplants.
Healthy-lifestyle habits also can help reduce the risk of heart disease, and some may lower your cholesterol:
You might start by talking to your family healthcare professional. Your healthcare professional may refer you to a specialist in heart disease, called a cardiologist.
You may want to write a list that includes:
Your healthcare professional is likely to ask you questions, such as:
