There are several factors that can explain one’s high level of cholesterol, although it is crucial to understand the important role that genetics plays.

There are genetic mutations, called lipoproteins, that directly affect a person’s cholesterol levels by changing the way the body transports and stores cholesterol. These genetic mutations can increase low-density lipoprotein (LDL) or bad cholesterol or decrease high-density lipoprotein (HDL) or good cholesterol. They may also increase triglycerides and lipoproteins.

People who possess these mutations may be genetically predisposed to suffer blocked arteries and other medical problems related to high cholesterol levels early in life.

Familial hypercholesterolemia

Familial hypercholesterolemia or FH happens because of a mutation occurring in the LDL receptor, which is essential in balancing cholesterol levels. FH occurs when a person has one mutated gene; this condition is called heterozygous FH.

A person who has heterozygous FH will experience very high cholesterol levels, but the symptoms develop over time. Some will develop cholesterol deposits under their skin or on their Achilles tendon. Oftentimes, even though they have high LDL levels, people with heterozygous FH are not diagnosed until their first coronary event, such as cardiac arrest.

On the other hand, there’s also a condition called homozygous FH that happens when both of an individual’s parents possessed and passed down a genetic mutation. It is a rare disorder that causes one’s LDL levels to elevate extremely, which can begin happening very early in life. In some cases, the symptoms of homozygous FH start appearing in childhood.

Because of the extremely high LDL levels, the condition can be difficult to treat. Patients can be required to undergo LDL apheresis to filter their blood and remove the LDL particles.

Can FH be inherited?

Like many diseases, familial hypercholesterolemia can be passed on to children. However, having the condition does not automatically mean your children will have it.

If one parent has heterozygous FH and the other parent does not, the children will have a 50% chance of having the condition. If both parents have heterozygous FH, the children will have a 75% chance of inheriting the genetic mutation. If one parent has homozygous FH and the other parent does not, the children will have a 100% chance of having the condition since one of the parents is certain to pass down a mutated gene.

Given the high likelihood of children inheriting the genetic mutation that causes FH, it is crucial to have the children undergo genetic testing to find out if they have inherited the gene. The earlier the child receives a medical diagnosis, the sooner they can be treated.

Early detection and treatment of FH can improve one’s life outlook. It can also prevent several serious diseases such as coronary artery disease, heart attack, stroke, and kidney disease.

If, in case, you have familial hypercholesterolemia, there are things you can do to reduce your risk of heart disease. For example, exercising regularly can raise your HDL or good cholesterol levels, which protects you against heart disease. It is also important to eat a healthy diet to maintain a healthy weight, which reduces your risk of diabetes and metabolic syndrome.

Familial hypercholesterolemia or a high level of cholesterol can be caused by inheriting genetic mutations from parents, but don’t forget that lifestyle and environment play an important role, too. Hence, by looking after your health and well-being, you can improve the quality of your life.

 

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