Cholesterol is a naturally occurring substance in the body that plays a vital role in the formation and function of cell membranes. However, excessive levels of cholesterol can have negative consequences on one’s health.

Hypercholesterolemia is a condition that occurs when there is too much cholesterol in the blood. In some cases, it can be caused by genetics, particularly family hypercholesterolemia. The problem with this genetic mutation is that it often goes undiagnosed, leading to potential health problems down the line.

What is Family Hypercholesterolemia?

Family hypercholesterolemia is an inherited genetic mutation that affects the body’s ability to metabolize excess cholesterol.

As a result, individuals with this condition have extremely high levels of low-density lipoprotein (LDL) cholesterol, also known as “bad” cholesterol. This increased LDL cholesterol can lead to the development of atherosclerosis, a build-up of plaque in the arteries that can cause heart attacks, strokes, and other cardiovascular problems.

How is Family Hypercholesterolemia Inherited?

The mutation that causes family hypercholesterolemia is inherited in an autosomal dominant pattern. This means that if one parent has the mutation, there is a 50% chance of passing it on to each child.

The mutation affects the gene that codes for the LDL receptor, a protein that helps remove LDL cholesterol from the bloodstream. Without properly functioning LDL receptors, LDL cholesterol builds up in the blood, leading to hypercholesterolemia.

Symptoms of Family Hypercholesterolemia

One of the challenges of family hypercholesterolemia is that it often goes undiagnosed because there are often no noticeable symptoms. In fact, the only way to confirm a diagnosis is through a blood test that measures cholesterol levels.

However, even without visible symptoms, family hypercholesterolemia can lead to serious health problems, which is why it’s essential to get tested if there is a family history of high cholesterol.

Risk Factors for Family Hypercholesterolemia

Family hypercholesterolemia is relatively rare, but certain risk factors increase the likelihood of having the genetic mutation. They include:.

Heredity: As mentioned, family hypercholesterolemia is a genetic mutation, so having a family history of high cholesterol and heart disease increases the risk.
Gender: Men are more likely than women to have family hypercholesterolemia.
Diet: Eating a diet high in saturated and trans fats increases LDL cholesterol levels, so it’s essential to maintain a healthy diet.
Lack of exercise: Exercise helps increase levels of high-density lipoprotein (HDL), or “good” cholesterol, which can help lower LDL cholesterol levels.
Obesity: Being overweight can also increase cholesterol levels and raise the risk of developing family hypercholesterolemia.

Treating Family Hypercholesterolemia

There are several treatments available for family hypercholesterolemia, including:.

Statins: These drugs are commonly used to help lower LDL cholesterol levels by blocking the enzyme in the liver that produces cholesterol.
Ezetimibe: This medication helps reduce the amount of cholesterol absorbed from food in the intestine.
Bile acid sequestrants: These medications work by binding bile acids in the intestine, preventing them from being reabsorbed and increasing the removal of LDL cholesterol from the blood.
PCSK9 inhibitors: These drugs are injected under the skin and work by blocking the PCSK9 enzyme, which helps remove LDL cholesterol from the blood.
Lifestyle changes: Along with medication, making lifestyle changes such as eating a healthy diet, exercising regularly, and quitting smoking can help manage high cholesterol levels.

Preventing Family Hypercholesterolemia

While family hypercholesterolemia is an inherited mutation, there are steps individuals can take to help reduce their risk of developing high cholesterol levels and potentially passing the mutation on to their children. They include:.

Maintaining a healthy diet: Eating a diet low in saturated and trans fats and high in fiber, fruits, and vegetables can help control cholesterol levels.
Regular exercise: Aim to get at least 30 minutes of moderate-intensity exercise most days of the week to help increase HDL cholesterol levels.
Avoiding smoking: Smoking damages blood vessels and increases the risk of heart disease.
Limiting alcohol consumption: Excessive alcohol consumption can raise blood pressure and triglyceride levels, which contributes to high cholesterol levels.
Getting regular check-ups: It’s essential to get regular cholesterol screenings, especially if there is a family history of high cholesterol.

Conclusion

Family hypercholesterolemia is a serious condition that can lead to heart disease and other cardiovascular problems.

While it often goes undiagnosed because there are no visible symptoms, it’s important to get screened for high cholesterol if there is a family history of the condition. With early diagnosis and treatment, individuals with family hypercholesterolemia can reduce their risk of developing heart disease and live long, healthy lives.