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Familial hypercholesterolemia: Causes, Symptoms, And Treatment

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Familial hypercholesterolemia: Causes, Symptoms, And Treatment

Introduction of Familial hypercholesterolemia

Familial hypercholesterolemia usually affects people with a high level of low-density lipoprotein LDL (bad) cholesterol in their bodies. Due to this condition, people have an increased risk of developing heart disease and heart attack. This condition is usually inherited and present from birth, but its symptoms may not appear until adulthood. If this condition is inherited from both parents, the symptoms of this disease occur in early childhood, and if it remains untreated, the patient may die before age 20.

Types of Familial hypercholesterolemia

There are two types of familial hypercholesterolemia:

1. Heterozygous familial hypercholesterolemia:

  • If you get the altered DNA from only one of your parents, this condition is known as heterozygous familial hypercholesterolemia. This condition is mild and treated with the help of medications.

2. Homozygous familial hypercholesterolemia:

  • If you get the altered DNA from both of your parents, then the condition turns severe, and this condition is known as heterozygous familial hypercholesterolemia. It can cause coronary artery disease in teenagers.

Causes of Familial hypercholesterolemia

The disease is usually inherited and transferred from parents to children. People suffering from this genetic issue have high LDL levels in their blood. The altered gene (gene mutation) causes It in the body present in chromosome number 19, and this chromosome is responsible for clearing LDL from the bloodstream. A high level of LDL deposits in the patient’s arteries can disturb blood flow, leading to heart disease or heart attack. 


Some significant signs and symptoms of It are the following:

  • A family history of high-level LDL cholesterol or heart attack
  • Intense level of LDL cholesterol in the body
  • Xanthelasmas(deposition of cholesterol in eyelids)
  • Xanthomas(Disposition of cholesterol in a waxy form in tendons and skin)
  • Therapy resistant level of LDL cholesterol in both parents
  • High level of angina
  • Chest pain
  • Calf cramps
  • Stroke


During diagnosis, your doctor asks about your family and medical history and asks for some tests. It is diagnosed in the following ways:

  • Through DNA test results
  • By checking the level of LDL in the body
  • By detecting the family history of coronary artery disease
  • When your symptoms are linked to atherosclerosis at a very young age

The tests which are used to diagnose It are the following:

  • The DNA test diagnosed the problem in one of the three genes which cause familial hypercholesterolemia.
  • A Lipid panel blood test detects cholesterol levels in the blood. Children suffering from familial hypercholesterolemia have more than 160mg/dL of LDL in the body, and adults have more than 190mg/dL in the body. The average LDL level is less than 100mg/dL. People suffering from homozygous familial hypercholesterolemia have higher than 200mg/dL of LDL in the body.


The doctor will usually recommend medications and lifestyle changes to treat both types of It; these medications help to cut down LDL by more than 50% in the body. You need to take multiple medications to treat homozygous hypercholesterolemia. In rare cases, when the disease turns severe, you also have to undergo familial hypercholesterolemia.

Lifestyle changes

Some lifestyle changes that your healthcare provider may recommend along with the medications are the following:

  • Avoid eating trans fats
  • Eat less saturated fat
  • Avoid eating egg yolks
  • Use more soluble fiber in your diet
  • Add lots of fruits, vegetables, whole grains, nuts, and legumes to your diet
  • Avoid eating things full of cholesterol
  • Add protein to your diet with the help of lean poultry, vegetable, low-fat dairy food, and fish.


The medications used to treat heterozygous It is the following:

  • PCSK9 inhibitors such as evolocumab and alirocumab
  • Ezetimibe
  • Bempedoic acid
  • Fibrates
  • Nicotinic acid
  • Statins
  • Bile acid sequestrants

The medications which are used to treat homozygous it is the following:

  • Evinacumab-dgnb injection
  • Statins
  • Mipomersen
  • PCSK9 inhibitors
  • Lomitapide

Risk factor

There is a higher risk factor when both your parents are already suffering from it, which is passed down to you by one or both parents through gene alteration. There is also a more significant risk of this disease if you take unhealthy, cholesterol-filled foods daily. The population which mostly suffers from It is the following:

  • French Canadians
  • Ashkenazi Jews
  • And some Lebanese group


People suffering from severe It risk of heart disease and heart attack will die at a very young age. If the familial hypercholesterolemia gets complicated, the patient suffers from the following condition:

  • Corneal arcus
  • Coronary artery disease
  • Aortic aneurysm
  • Xanthomas
  • Xanthelasmas
  • Peripheral artery disease
  • Cerebrovascular disease

Most people suffering from it have a heart attack, men at the age of 50 and women at the age of 60. In rare cases when the disease will be undiagnosed and remain untreated patient can die before 20.


There is no way to prevent It because it is inherited in several cases. Still, you can control it by changing your diet, exercising, and taking medication on time as recommended by your healthcare provider.s

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