Familial hypercholesterolemia, the inherited condition that affects cholesterol levels. The complications, devastating. How do you know you inherited high cholesterol?

Familial hypercholesterolemia is a serious genetic condition that can affect cardiovascular health and significantly increase the risk of heart attack from a young age. This hereditary disorder causes high levels of LDL (bad) cholesterol, with the potential to cause narrowing of the arteries and other severe complications. However, with proper diagnosis and treatment, the risk can be managed and the devastating consequences of the disease can be prevented.

Familial hypercholesterolemia is a disorder that runs in families. This causes the level of LDL (bad) cholesterol to be very high. This condition begins at birth and can cause heart attacks at a young age, according to Medline Plus.

Familial hypercholesterolemia, causes

Familial hypercholesterolemia is a genetic disorder. It is caused by a defect on chromosome 19. The defect makes the body unable to remove LDL (bad) cholesterol from the blood. This leads to a high level of LDL in the blood.

Familial hypercholesterolemia is a serious hereditary condition that has a significant impact on cardiovascular health and increases the risk of heart attack from a young age. This genetic disorder causes an increase in LDL cholesterol (also known as “bad” cholesterol), which has the potential to lead to narrowing of the arteries and other serious complications.

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Familial hypercholesterolemia, symptoms

Symptoms of familial hypercholesterolemia may not be present in the early years. When they appear it is about:

– Fatty deposits on the skin, on parts of the hands, elbows, knees, ankles and around the cornea of ​​the eye

– Cholesterol deposits in the eyelids

– Chest pain (angina) or other signs of coronary heart disease may be present at a young age

– Sores on the toes that do not heal

Sudden stroke-like symptoms, such as difficulty speaking, falling to one side of the face, weakness in an arm or leg, and loss of balance.

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Familial hypercholesterolemia, diagnosis

A physical exam may show fatty growths on the skin and cholesterol deposits in the eye (corneal arcus). Blood tests may show:

– High level of total cholesterol

– High LDL level

– Normal triglyceride levels

Other tests that may be performed include:

– Studies of cells called fibroblasts to see how the body absorbs LDL cholesterol

– Genetic test for the defect associated with this condition.

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Familial hypercholesterolemia, treatment

The goal of treatment is to reduce the risk of atherosclerotic coronary artery disease. People who have one copy of the defective gene from their parents may feel better with changes in diet and statin drugs.

The first step is to change what you eat. Most of the time, your doctor will recommend that you try this for several months before prescribing medication. Dietary changes include reducing the amount of fat you eat so that it is less than 30% of your total calories. If you are overweight, losing weight is very helpful.

Here are some ways to eliminate saturated fat from your diet:

– Eat less beef, chicken, pork and lamb

– Replace whole milk products with low-fat dairy products

– Eliminate trans fats

– You can reduce the amount of cholesterol you eat by eliminating egg yolks and organs such as the liver.

If lifestyle changes don’t change your cholesterol levels, your provider may recommend that you take medication. There are several types of medications available to help lower blood cholesterol levels, and they work in different ways. Some are better at lowering LDL cholesterol, some are good at lowering triglycerides, while others help raise HDL cholesterol. Many people will take multiple medications.

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Familial hypercholesterolemia, complications

Increased cholesterol – PHOTO: Freepik@alex79zpua

Men and women with familial hypercholesterolemia are usually at increased risk of early heart attacks. The risk of death varies among people with familial hypercholesterolemia. If you inherit two copies of the defective gene, you have a poorer prognosis. This type of familial hypercholesterolemia does not respond well to treatment and can cause an early heart attack.

Complications may include:

– Heart attack at a young age

– Heart diseases

– Stroke

– Peripheral vascular disease.

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