:quality(85)//cloudfront-us-east-1.images.arcpublishing.com/infobae/AC2M3MKGA5FVJH3ZDE2OQQVQF4.jpg "Familial hypercholesterolemia: causes, symptoms, diagnosis and treatment")
Familial hypercholesterolemia affects how the body processes cholesterol. As a result, people with familial hypercholesterolemia have a higher risk of heart disease and a higher risk of heart attack at a young age.
The genetic changes that cause familial hypercholesterolemia are inherited. The condition is present from birth, but symptoms may not appear until adulthood.
People who inherit the disease from both parents usually develop symptoms in childhood. If this rare and more serious variety is not treated, death usually occurs before the age of 20.
Treatments for both types of familial hypercholesterolemia include a variety of medications and healthy lifestyles.
Symptoms
Adults and children with familial hypercholesterolemia have very high levels of low-density lipoprotein (LDL) cholesterol in their blood. Cholesterol LDL It is known as bad cholesterol because it can build up on the walls of arteries, making them hard and narrow.
This excess cholesterol is sometimes deposited in certain parts of the skin, in certain tendons and around the iris of the eyes: Fur. The most common places where cholesterol deposits occur are the hands, elbows, and knees. They can also appear on the skin around the eyes. Tendon. Cholesterol deposits can thicken the Achilles tendon, as well as some tendons in the hands. Eyes. High cholesterol levels can cause a corneal arch, a white or gray ring around the iris of the eye. It occurs more frequently in older people, but it can occur in younger people with familial hypercholesterolemia.
Diagnostic
Having a detailed family history is an important factor in the diagnosis of familial hypercholesterolemia. Doctors will want to know if your siblings, parents, uncles, or grandparents ever had high cholesterol or heart disease, especially as children.
During the physical exam, doctors often look for cholesterol deposits that can form in the skin around the hands, knees, elbows, and eyes. The tendons in the heel and hand may be thickened and a gray or white ring may appear around the iris of the eye.
cholesterol tests
The National Heart, Lung, and Blood Institute recommends that people take their first cholesterol test between ages 9 and 11, and take one every five years thereafter. Earlier or more frequent screening may be recommended for families with a history of childhood heart disease.
In the United States, cholesterol levels are measured in milligrams (mg) of cholesterol per deciliter (dl) of blood. In Canada and many European countries, cholesterol levels are measured in millimoles per liter (mmol/l).
Adults with familial hypercholesterolemia often have cholesterol levels of low density lipoproteins greater than 190 mg/dl (4.9 mmol/l) or more. Children with this disorder often have cholesterol levels of low density lipoproteins greater than 160 mg/dl (4.1 mmol/l). In severe cases, cholesterol levels low density lipoproteins may exceed 500 mg/dl (13 mmol/l).
The cholesterol of low density lipoproteins It is also known as bad cholesterol because it can build up on the walls of arteries, making them hard and narrow. This can increase the risk of heart attacks.
genetic test
A genetic test can confirm familial hypercholesterolemia, but it is not always necessary. However, a genetic test can help determine if other family members may also be at risk.
If one parent has familial hypercholesterolemia, each child has a 50% chance of inheriting it. Inheriting the altered gene from both parents can result in a less common and more severe form of the disease.
Treatment of familial hypercholesterolemia focuses on reducing extremely high cholesterol levels in low density lipoproteins (bad). This helps reduce the risk of heart attack and death.
Medications
Most people with familial hypercholesterolemia will need to take more than one medication to control their low-density lipoprotein cholesterol levels. (LDL) . Here are some options: Statins. These drugs block a substance the liver needs to make cholesterol. Some examples are atorvastatin (Lipitor), fluvastatin (Lescol XL), lovastatin (Altoprev), pitavastatin (Livalo), pravastatin, rosuvastatin (Crestor), and simvastatin (Zocor). Ezetimibe (Zetia). This medication limits the absorption of cholesterol from the foods you eat. If statins do not lower cholesterol enough, doctors often recommend adding ezetimibe. PCSK9 inhibitors. These new drugs (alirocumab > and evolocumab >) help the liver absorb more cholesterol LDL , which reduces the amount of cholesterol circulating in the blood. They are injected under the skin every few weeks and are very expensive.
other treatments
In severe cases, people with familial hypercholesterolemia may need regular procedures to filter excess cholesterol from their blood. Some people may need liver transplants.