Familial Hypercholesterolemia (FH)

What is Familial Hypercholesterolemia?

Familial hypercholesterolemia is an inherited condition (a genetic condition) that affects the cardiovascular system. Specifically, it impacts the levels of LDL (low density lipoprotein, also known as bad cholesterol) and makes the levels of this cholesterol in the body extremely high.

A child is born with familial hypercholesterolemia and is caused by a problem with chromosome 19. When chromosome 19 is defective, it makes it so that the body cannot effectively rid itself of LDL and because of this, the LDL builds up in the bloodstream. The high levels of LDL starting at such a young age and continuing throughout life can cause numerous health issues including narrowed and blocked or clogged arteries and even early heart attacks.

Generally speaking, the chromosomal defect is passed down in what is known as an autosomal dominant inheritance pattern, meaning that only one parent has to pass down the abnormality. However, in some rare cases, a person may inherit the condition from both parents.

What are the Symptoms of Familial Hypercholesterolemia?

There are numerous symptoms of familial hypercholesterolemia that develop over time.

Symptoms include

People with familial hypercholesterolemia tend to have deposits of cholesterol around their eyes or in their tendons. Fatty deposits on the skin can also be noted on areas of the body like the elbows, ankles, hands and knees. Sometimes, individuals also have sores on their feet that will not heal.

Of course, a person’s LDL will be very high if a cholesterol test is performed. Chest pain is also a common complaint of those with familial hypercholesterolemia, as well as calf cramps when walking, as well as early heart attacks and even strokes.

Familial Hypercholesterolemia Causes

Familial hypercholesterolemia is characterized as a risk of high cholesterol, not as a result of unhealthy lifestyle choices but rather by a genetic defect that changes how the body processes cholesterol. It is therefore considered a birth defect and it is passed down from parent to child. The mechanism that causes the symptoms is the inability of the body to remove low-density lipoprotein (LDL) cholesterol, which is considered the most harmful cholesterol. This can cause hardening of the arteries and heart disease, which is usually the first indication that a person has this disease unless they have been the subject of genetic testing. The only way to contract FH is by inheriting the altered copy of the gene from one or both of the child’s parents. In the case of inheriting it from both parents, this can lead to a more severe form of the disease.

How is Familial Hypercholesterolemia Treated?

Familial hypercholesterolemia is not a curable disorder. However, there are ways that the condition can be managed.

Treatment includes

Maintaining a very strict diet is one of the main treatment options available for familial hypercholesterolemia. The amount of fats that a person with this condition consumes must be extremely limited. This means cutting down on or cutting out all types of meats, as well as only consuming low-fat dairy (if any), and never consuming trans fats.

If a person who is diagnosed with familiar hypercholesterolemia is overweight, dietary and physical activity changes can also help. Statins and other heart medications may also be prescribed to help prevent heart attacks and strokes as well as to help keep the arteries as healthy as possible. Cholesterol medications may also help to reduce overall cholesterol levels.

Familial Hypercholesterolemia Prevention

Familial Hypercholesterolemia (FH) may not be able to be prevented, as it is a hereditary genetic disease. However, treatments are available if it is discovered early enough to ensure that the most serious problems of the heart and blood vessels can be prevented or delayed. Those who are diagnosed with FH are encouraged to refrain from smoking, engage in exercise regularly, and follow a diet that is low in saturated/trans fats. In addition, there are cholesterol-lowering medications that can help to alleviate the condition. For those with the most severe form of the disease, LDL-apheresis may be required to remove the cholesterol from the blood on a weekly or biweekly basis. Early detection by way of regular cholesterol testing is highly recommended if a child has a family history of heart disease before the age of 55 in either parent.

Last Reviewed:
September 20, 2016
Last Updated:
December 21, 2017
Content Source: