Familial hypercholesterolemia: what it is, symptoms, causes and treatment

Familial hypercholesterolemia is a genetic disease in which there are very high levels of cholesterol in the blood, which can cause symptoms such as nodules around the eyes, yellow plaques on the skin and joint pain, due to the accumulation of cholesterol.

Cholesterol is a type of fat that, although it is essential for the functioning of the body, when very high can increase the risk of cardiovascular problems, such as heart attack or stroke.

Read too: High cholesterol: symptoms, causes, risks and how to lower it
If familial hypercholesterolemia is suspected, it is recommended to initially consult a cardiologist or general practitioner. Treatment usually involves medication and dietary changes to lower blood cholesterol.

Main symptoms

The main symptoms of familial hypercholesterolemia are:

• Nodules (dots) around the eyesknown as xanthelasmas;
• White ring or arc at the edge of the iriswhere the color of the eye joins with white;
• Swelling or yellowish, raised plaques over tendonsespecially on the heels, fingers, knees and elbows;
• Frequent pain in tendons or jointsmainly on the Achilles tendon, in the heel.

In some cases, symptoms of familial hypercholesterolemia can begin in childhood and, due to the accumulation of cholesterol in the body, the person is at greater risk of developing cardiovascular problems such as heart attack, stroke and peripheral arterial disease.

Thus, young people with familial hypercholesterolemia may already present symptoms, such as chest pain and/or shortness of breath when exerting themselves, burning in the legs when walking or fainting, due to the development of atherosclerosis. Check out what atherosclerosis is and the symptoms.

How to confirm the diagnosis

Familial hypercholesterolemia is initially identified by a cardiologist or general practitioner when the person shows signs of cholesterol accumulation in the body, a family history of the disease or atherosclerosis in young people and very high blood cholesterol levels.

Read too: Cholesterol values: LDL, HDL, VLDL and total
If you want to schedule an appointment, find a cardiologist closest to you using the tool below:

However, the diagnosis of familial hypercholesterolemia is only confirmed by carrying out a genetic test, which can identify changes in the DNA specific to the disease.

cholesterol calculator

To find out how your blood cholesterol levels are, enter the results of your test in the calculator below:

One of the main changes that may indicate familial hypercholesterolemia is high blood cholesterol levels, with circulating LDL frequently being above 190 mg/dL in adults and 160 mg/dL in children.

Possible causes

Familial hypercholesterolemia is caused by a genetic alteration that results in cells having difficulty incorporating cholesterol present in the blood, resulting in its accumulation in the body.

Especially when one of the parents has familial hypercholesterolemia, there is a high risk of the person inheriting their genetic changes, increasing the chances that they will also develop the disease.

How the treatment is carried out

Treatment of familial hypercholesterolemia initially involves medications to lower blood cholesterol, such as rosuvastatin and atorvastatin, according to the doctor’s advice, and reducing the intake of saturated fats, which are present in foods such as red meat and whole milk. .

Read too: Diet for high cholesterol: foods allowed and to avoid
When a person does not respond well to initial treatment, the doctor may also recommend other medications, such as ezetimibe, which works by reducing the absorption of cholesterol in the intestine, or evolocumab, which works to eliminate cholesterol from cells. Find out more remedies to lower high cholesterol and how to use them.

Although there is no cure for familial hypercholesterolemia, when treatment is carried out in accordance with the instructions of a doctor and nutritionist, it is possible to control cholesterol levels in some cases and reduce the risk of cardiovascular problems.