What Is Familial Hypercholesterolemia? Diagnosis And Treatment!

Familial hypercholesterolemia is an inherited condition in individuals that leads to the formation of high levels of LDL or low-density lipoprotein cholesterol in the body. This condition also results in increased total cholesterol levels as well. You must have heard people talking about eating food items that do not cause an increase in blood cholesterol levels as it leads to an increased risk of heart diseases.

Why Is Cholesterol Bad For Your Health?

Talking cholesterol refers to a kind of waxy substance that gets formed in the body and starts sticking to the inner walls of the arteries. As this happens, the arteries may become narrow and the blood flow is interrupted. When the cholesterol levels are very high, it can lead to a condition called atherosclerosis, and the risk of heart-related problems and strokes is increased.

If you look at the data, you will find that this condition is among one of the most commonly inherited ones affecting 1 in 500 people. Some of the alternative studies have also suggested that there is the prominence of this disease in 1 out of every 250 people in certain European populations.

Familial Hypercholesterolemia

Familial hypercholesterolemia, also known as type 2 hyperlipoproteinemia is considered to be more severe as compared to the cases of non-genetic hypercholesterolemia. If you look closely at its familial version, you will notice that it leads to increased levels of cholesterol in the body along with an increased risk of heart diseases at a comparatively younger age.

Signs And Symptoms Of Hypercholesterolemia

Mostly, the high cholesterol levels have no symptoms until some kind of accident takes place or damage occurs in any form. However, if you stay alert and aware, some basic symptoms that can be observed by you are:

🔴You may experience pain in your chest occasionally while performing an activity or doing some tasks.

🔴The fatty deposits may start forming in the body in areas like the buttocks, tendons, elbows, and knees. These deposits are termed xanthomas.

🔴The cholesterol starts getting accumulated around the eyelids as well. The cholesterol deposits occurring around the eyes are termed xanthelasmas.

🔴A condition called corneal arcus may be developed in which the gray-white cholesterol starts getting deposited around a person’s cornea.

What Are The Causes Of Hypercholesterolemia?

If you look at the anatomy and functioning of your body, you will find that right now, there are 3 FH genes present in the body. Each chromosome is located on a different chromosome. In the majority of the cases, an individual inherits this disease by inculcating one of the genes or pair of genes in their body. Studies reveal that some specific combinations of genes can lead to causing problems in certain cases.

Familial hypercholesterolemia is found to be much more common among the groups of Finnish, Dutch descents, French Canadian, and Finnish. It can also occur if your close family member is also suffering from this disease.

What Is The Diagnosis Of Familial Hypercholesterolemia?

The diagnosis of this condition is done through various methods. As you visit the doctor, he will examine and will see what kind of diagnosis method and treatment can be applied.

⭐️Physical Examination

The doctor will conduct a physical examination of yours and this will help in identifying and knowing the types of fatty deposits or the lesions that have been developed due to elevated levels of lipoproteins. Also, the medical history is recorded and your personal details are noted down.

⭐️Blood Tests

  • The doctor will ask you to undertake the blood tests as well. This is important because the blood tests will help to know about your cholesterol levels and will let the doctor initiate the right treatment procedure.
  • Right now, there are three main bases for the diagnosis of familial hypercholesterolemia. These are Simon Broome criteria, Dutch Lipid Clinic Network criteria, and MEDPED criteria.
  • In the case of Simon Broome criteria, the total cholesterol levels are more than 290 mg in adults and more than 260mg/dl in children under the age of 16 years. Apart from this, you can also say that LDL cholesterol is more than 155 mg per DL in children and 190 mg per dl in adults.
  • The Dutch Lipid Clinic Network criteria involve looking for treatments when the levels are elevated beyond 155 mg per dl. If the LDL levels are more than this, you will be requiring some lifestyle changes and medications. The MEDPED criteria provide cutoffs for total cholesterol based on family history and age.
  • Your triglyceride levels are also checked by the doctor. The fatty acids present in the body are responsible for the formation of triglycerides. Generally, triglyceride levels are normal in people dealing with this genetic disease. Their levels are below 150 mg per dl.

⭐️Other Tests

Knowing about the family history becomes important in such cases. If there is information that someone from the family is already suffering from such disease or has had heart-related issues then it helps in identifying an individual’s personal risk of FH.

The other tests that the doctor may ask you to do are specialized lipid and cholesterol tests along with several other genetic tests to be sure of what is happening inside the body. The genetic tests will help in determining if you have the presence of any defective genes. 

The identification of familial hypercholesterolemia through genetic tests will help in the early treatment and reduce the risk of getting heart diseases. The tests and treatment have led to a reduction in the number of deaths caused due to high cholesterol levels. Your heart tests may also be carried out that include an ultrasound. In addition to this, the doctor may also recommend a stress test.

What Is The Treatment For Familial Hypercholesterolemia?

People do have high cholesterol levels normally in today’s age that the doctors tend to treat with the help of lifestyle changes. But, in the case of familial hypercholesterolemia, along with some lifestyle changes, medication is a must. When both diet and drugs are combined, it leads to a successful reduction in the levels of cholesterol in the body. This will prevent your body from heart attacks, heart diseases, and several other complications as well.

Changes in lifestyle

To deal with such issues, the doctors mostly advise you to follow a proper and healthy lifestyle. This will help you to keep your body in a healthy state. Your food should contain all the essential vitamins, minerals, carbohydrates, fats, and proteins to let your body become stronger and build a specific level of immunity.  Apart from this, if your body lacks some amount of nutrients, they can be taken in the form of supplements as per the doctor’s prescription.

It has also been discovered that physical workout sessions can have a significant impact on the size and nature of the particles that carry cholesterol in the body. People who exercise more are seen to have much fluffier particles that do not lead to the formation of clogged arteries in a short period of time.

The doctor will make certain modifications to your diet and daily activities. You will be asked to make exercises a part of your life and continue doing them to stay healthy and fit. You must focus on reducing the unhealthy fat intake and junk foods. Also, you should perform physical workout sessions to burn your calories and stay fit.

  • Include lean proteins in your diet like chicken, soy, and fish. In addition to this, you should reduce the consumption of red meat and pork.
  • Avoid using lard or butter for your food. You must start using canola oil or olive oil in food items.
  • Start consuming low-fat dairy products instead of full-fat dairy products. You should eat a lot of vegetables, fruits, and nuts to make sure that your body gets the required nutrients.
  • You should also limit the intake of sweetened drinks and soda. The consumption of alcohol should be limited to one drink for women and two drinks per day for men.
Changes in lifestyle

Following a proper diet and performing the right exercises will definitely help in reducing cholesterol levels to a great extent. You can perform exercises like running, cycling, swimming, and even walking. Starting with basic levels and reaching out to intense ones will help you burn your calories. Apart from this, always get yourself an 8-hour sleep that will help you relax your body and heal it.


  • For people who are suffering from high cholesterol, yoga is seen to have a significant impact on the functioning of their bodies. Adapting to a yoga-based lifestyle helps in achieving low cholesterol levels. It reduces the risk of developing cardiovascular diseases and improves the low-density lipoprotein levels in the body.
  • As you learn yoga, you can also find some specific asanas meant to work on your fat and cholesterol levels. You can perform them regularly along with keeping a check on your diet plan. Looking at the kind of benefits that yoga has offered and what people have observed, it is advised to make it a part of your lifestyle for sure.


  • It has been scientifically proven that walking is among one of the best activities to reduce your cholesterol levels as well as the risk of developing heart-related diseases. Further, it is very easy to do and it can be performed by anyone at any hour of the day at any location.
  • Being an aerobic exercise increases the efficiency of working of your lungs and heart which helps the body cells to use oxygen more effectively. The blood circulation occurs with more ease and smoothness in the body and helps the arteries to stay clear of the plaque.
  • The women participating in walking programs tend to improve their blood cholesterol levels at a much greater speed than someone who tends to stay dependent on medicines only.

Strength Training

  • Strength training becomes necessary to build power in your muscles and provide you with the energy to perform other exercises and activities with ease. It helps you to balance the effects of aging and also to handle the skeletal muscle mass and function.
  • Undergoing this training helps you to develop the ability of muscles to perform and work more with increased efficiency. It helps you to work for prolonged hours and causes an increase in your lean body mass as well. If you have lower body fat, it will lead to improved cholesterol levels, reduced risk of heart-related issues, and lowered blood pressure levels.
  • Further, when you start getting involved in such activities, it improves your quality of life. To perform strength training, you will be requiring a combination of machines and free weights.
  • You should start by carrying less weight and increase the level of complexity slowly as the body becomes used to it. Gradually increasing the weights and regular training will help you become a better version of yourself.
Strength Training

Use of Drug Therapies

The doctors also prefer to provide you with the medications along with the lifestyle changes to provide you with a speedy recovery. The medications can be started as early as ages 8 to 10 in children.

The most commonly used drugs in the treatment of increased LDL cholesterol are statins. These include simvastatin or Zocor, lovastatin (Mevacor, Altoprev), atorvastatin (Lipitor), and much more.

Use of Drug Therapies

If not given heed to these issues, it can lead to severe complications in the later stages. It can lead to a heart attack at an early age. You can also suffer from long-term atherosclerosis, strokes, or some serious heart diseases. A person may also experience death at a young and early age due to this condition.

It is extremely important in today’s time to keep a check on your health and stay healthy and fit. Every age group undergoes some health issues and has its own ways of dealing with them. You must find an experienced doctor who can guide you to take the right measures to deal with your problem. You must make sure that you are consulting the right physician.

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