Familial hypercholesterolemia is one of the reasons behind early age heart attacks. An inherited condition, which leads to high levels of LDL (low density lipoprotein) cholesterol, familial hypercholesterolemia is genetic. Today, let us take a closer look at its causes, symptoms, and treatment options...

First of all, let us understand what cholesterol is...

Found in the cells of the body, cholesterol is a fat-like substance that provides energy to the body’s cells. It comes from our food that we eat and our body that makes it. It is produced from the carbohydrates and fat that we eat. Our liver takes this cholesterol from our blood stream and then wraps it in protein packs and sends it to tissues. Extremely essential for the body to work properly, cholesterol helps in making hormones, Vitamin D and helps with the digestion of food. The presence of too much cholesterol in the body leads to its build up in the walls of the arteries and increases the risk of cardiovascular diseases. 

Causes of familial hypercholesterolemia. Genetic history of a defect in chromosome is the main reason behind familial hypercholesterolemia. This defect makes the body unable to remove low density lipoprotein cholesterol from the blood. Thus, resulting in high levels of LDL in the blood. Typically, the condition is passed down from one generation to another in an autosomal dominant manner. This means that if you get the gene from just one of parent, it can still lead to familial hypercholesterolemia. 

Symptoms of familial hypercholesterolemia. A few of the symptoms of familial hypercholesterolemia are high levels of LDL cholesterol, elevated levels of LDL in both the parents, xanthomas (waxy deposits of cholesterol in the skin or tendons), corneal arcus (cholesterol deposits around the cornea of the eye) and xanthelasmas (cholesterol deposits in the eyelids). Besides this, if you have angina (chest pain) and a strong family history of heart attacks you might be a victim of familial hypercholesterolemia.

Diagnosis of familial hypercholesterolemia. By studying the heart function and genetic testing, the laboratory testing of familial hypercholesterolemia is possible. If your cholesterol level is above 300 mg/dl, you might have familial hypercholesterolemia. 

Treatment of familial hypercholesterolemia. 

Main treatment of familial hypercholesterolemia is based on lifestyle modifications, which should be as follows:

• Lose weight, if you are obese and particularly around your waist.   
• Exercise daily. Any kind of activity will work like walking, weight lifting, aerobics, cycling, playing sports, as it increases good cholesterol and lowers bad cholesterol and triglycerides.
• Limit your intake of alcohol, as alcohol is high in calories and sugar and increases triglycerides.
• Quit smoking, as it increases the chances of heart diseases.
• Avoid trans fat from your diet.
• Eat a low calorie diet as this reduces triglycerides.      

If lifestyle changes do not cure your familial hypercholesterolemia, then your healthcare expert may recommend medication. The most commonly used drugs to reduce the level of LDL cholesterol are lovastatin (Mevacor), pravastatin (Pravachol), simvastatin (Zocor), fluvastatin (Lescol), atorvastatin (Lipitor), and rosuvastatin (Crestor). 

One has to also opt for extracorporeal apheresis, in case the doctor recommends and the condition worsens. In this treatment, blood or plasma is removed from the body, then the extra LDL cholesterol is removed from the body and the blood plasma is then returned.

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