Familial hypercholesterolemia- Symptoms, Causes and Treatment

Journal of Food and Clinical Nutrition is a peer reviewed open access journal. It is a bimonthly journal. Here we have discussed about Familial hypercholesterolemia.

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 greater risk of early heart attack. The gene that causes familial hypercholesterolemia is inherited. The condition is present from birth. Treatments including medications and healthy lifestyle behaviors can help reduce the risks.

Symptoms

High cholesterol is a common medical condition, but it's often the result of unhealthy lifestyle choices, and thus preventable and treatable. With familial hypercholesterolemia, a person's risk of high cholesterol is higher because a defect (mutation) in a gene changes how the body processes cholesterol. This mutation prevents the body from removing low-density lipoprotein (LDL) cholesterol, the "bad" cholesterol, from the blood. As a result, plaques can cause your arteries to narrow and harden, increasing the risk of heart disease. Genetic testing can reveal whether you have this mutation.

These gene mutations are passed from parent to child. To have the condition, children need to inherit an altered copy of the gene from one parent. Most people with familial hypercholesterolemia have one affected gene and one normal gene. In rare cases, a person inherits an affected copy from both parents, which can lead to a more severe form of the condition.

Causes

Familial hypercholesterolemia is caused by a gene that's passed down from one or both parents. People who have this condition are born with it. This defect prevents the body from ridding itself of the type of cholesterol that can build up in your arteries and cause heart disease. This type of cholesterol is called low-density lipoprotein but it's also commonly known as LDL or bad cholesterol. LDL cholesterol can cause your arteries to get hard and narrow. This increases your risk of a heart attack and heart disease.

Treatment

Lifestyle changes, such as exercising and eating a healthy low-fat diet, are the first line of defense against high cholesterol. Common medication choices include:

• Statins. 
•  Bile-acid-binding resins
• Cholesterol absorption inhibitors
• Combination cholesterol absorption inhibitor and statin. 
•  Injectable medications

Medications for high triglycerides

If you also have high triglycerides, your doctor may prescribe:

Fibrates, Niacin, Omega-3 fatty acid supplements. 

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