Symptoms and treatment of Familial hypercholesterolemia
Familial hypercholesterolemia
Description
Familial hypercholesterolemia affects the way the body processes cholesterol. As a result, people with familial hypercholesterolemia have a higher risk of heart disease and a higher risk of early heart attack.
The genetic changes that cause familial hypercholesterolemia is inherited. The condition is present from birth, but symptoms may not appear until adulthood.
People who inherit the condition from both parents tend to develop symptoms in childhood. If this rare and the most serious of the array is left without treatment, death usually occurs before the age of 20 years.
Treatments for both types of familial hypercholesterolemia, which include a variety of medications, and healthy lifestyle behaviors.
Symptoms
Adults and children with familial hypercholesterolemia have very high levels of low-density lipoprotein (LDL) in the blood. the low-density lipoprotein (LDL) cholesterol is known as "bad" cholesterol because it can build up in the walls of the arteries, which makes it difficult and narrow.
This excess cholesterol is sometimes deposited in certain parts of the skin, some of the tendons and around the iris of the eyes:
- Of the skin. The most common sites for cholesterol deposits to occur is in the hands, elbows and knees. It can also occur in the skin around the eyes.
- The tendons. Cholesterol deposits can thicken the Achilles tendon, along with some of the tendons of the hands.
- The eyes. High levels of cholesterol can cause corneal arcus, white or gray ring around the iris of the eye. This occurs most commonly in people of advanced age, but can occur in younger people who have familial hypercholesterolemia.
Causes
Familial hypercholesterolemia is caused by a genetic defect that is passed from one or both parents. People who have this condition are born with it. This change prevents the body is free from the type of cholesterol that may build up in the arteries and cause heart disease.
Risk factors
The risk of familial hypercholesterolemia is greater if one or both parents have the gene alteration that causes it. Most of the people who have the condition to receive an affected gene. But in rare cases, a child may receive the defective gene from both parents. This can cause a more severe form of the disease.
Familial hypercholesterolemia may be more common in certain populations, including:
- Ashkenazi Jews
- Some Lebanese groups
- Canadian French
Complications
People who have familial hypercholesterolemia have a higher risk of heart disease and death at a young age. The heart attack may occur before age 50 years in men and 60 years of age in women. The most rare and the most severe of the variety of the condition, if not diagnosed or not treated, it can cause death before the age of 20 years.
Familial hypercholesterolemia
Diagnosis
A detailed family history is an important key to the diagnosis of familial hypercholesterolemia. The doctors will be interested in knowing if your siblings, parents, aunts, uncles or grandparents had high cholesterol levels or heart disease, especially during childhood.
During the physical exam, doctors usually check for cholesterol deposits that can occur in the skin around the hands, knees, elbows, and eyes. The tendons in the heel and the hand can be more thick, and of a gray or white ring may develop around the iris of the eye.
Cholesterol tests
The National Heart, Lung, and blood Institute recommends that a person of the first cholesterol test should occur between the ages of 9 and 11 years, and then repeat it every five years after that. Earlier or more frequent screening may be suggested 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 in many European countries, cholesterol levels are measured in millimoles per litre (mmol/L).
Adults who have familial hypercholesterolemia tend to have low-density lipoprotein (LDL) and cholesterol levels of 190 mg/dL (4.9 mmol/L). Children with the disorder often have high levels of LDL cholesterol over 160 mg/dL (4.1 mmol/L). In severe cases, the levels of LDL cholesterol can be higher than 500 mg/dL (13 mmol/L).
The LDL cholesterol, also known as bad cholesterol because it can build up in the walls of the arteries, which makes it difficult and narrow. This can increase the risk of heart attacks.
Genetic testing
A genetic test can confirm the familial hypercholesterolaemia, but it's not always necessary. However, a genetic test can help determine if other members of the family may also be at risk.
If one of the parents has familial hypercholesterolemia, each child has a 50% chance of inheriting. Inherit the altered gene from both parents may result in a rarer and more severe form of the disease.
If you are diagnosed with familial hypercholesterolemia, doctors usually recommend that their first-degree relatives — such as siblings, parents and children — to be selected for the disorder. This will allow treatment to begin early, if necessary.
Treatment
Treatment of familial hypercholesterolemia focuses on the reduction of the extremely high levels of LDL (bad) cholesterol. This helps to reduce the risk of heart attack and death.
Drugs
Most people with familial hypercholesterolemia have to take more than one medication to control their levels of LDL cholesterol. The options include:
- Statins. These drugs block a substance your liver needs to make cholesterol. Examples include atorvastatin (Lipitor), fluvastatin (Lescol XL), lovastatin (Altoprev), pitavastatin (Livalo), pravastatin, rosuvastatin (Crestor), and simvastatin (Zocor).
- Ezetimibe (Zetia). This drug limits the absorption of the cholesterol content in the foods you eat. If statins do not reduce the cholesterol enough, the doctors will usually suggest the addition of ezetimibe.
- PCSK9 inhibitors. These new drugs — alirocumab (Praluent) and evolocumab (Repatha) — help the liver to absorb more of LDL cholesterol, which lowers 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 also need to undergo a procedure that filters the excess cholesterol in your blood. Some may need a liver transplant.
Self-care
Healthy lifestyle habits can also help reduce the risk of heart disease, and some may lower cholesterol:
- To lose extra pounds. Losing weight can help lower cholesterol.
- Eating a heart-healthy diet. Focus on foods of plant origin, including fruit, vegetables, and whole grains. Limit saturated fats and trans fats.
- Exercise regularly. With the permission of your doctor, to perform at least 30 minutes of moderate-intensity exercise five times a week.
- Do not smoke. If you smoke, find a way to quit smoking.
