Familial Hypercholesterolemia: Causes, Symptoms, Treatments and More

Familial Hypercholesterolemia
Editor's Note: This article has been recently updated with latest information and research studies.
 

Some diseases or medical conditions occur because we don’t eat healthy foods, we don’t exercise, or for many other reasons. However, there are also medical diseases and conditions that are inherited and one of them is familial hypercholesterolemia. In this article we will discuss this condition that is unfamiliar to majority of people.

What is Familial Hypercholesterolemia?

Familial hypercholesterolemia or simply FH is an inherited condition which is characterized by high level of cholesterol and LDL (low density lipoprotein) that is considered as the “bad” cholesterol.

Cholesterol is a waxy substance which is commonly found in fats (lipids) in your blood. The truth is, our body needs cholesterol in order to build healthy cells, however a large amount of cholesterol in our body can decrease* our overall health and increase* the risk of various diseases including heart attack. When cholesterol builds up in our arteries it leads to arthrosclerosis which leads to various cardiovascular diseases.

Familial hypercholesterolemia is also known as Type II hypercholesterolemia. This condition is considered as the most common form of inherited cholesterol problem and it affects 1 out of 500 people. This condition shouldn’t be identified with the non-genetic high cholesterol condition because familial hypercholesterolemia is more severe. People who suffer from this condition have higher cholesterol levels than people with non-genetic high cholesterol condition and are more at risk of various diseases.

Causes of Familial Hypercholesterolemia

This condition is caused by a genetic disorder on the chromosome 19. Familial hypercholesterolemia is different from other genetic disorder because other genetic disorders usually require both sides of the family to have certain condition. Unlike these disorders, familial hypercholesterolemia is autosomal dominant which means that child may have this condition even if only one of his or her parents has a mutated gene.

Causes of Familial Hypercholesterolemia

It rarely happens that both parents carry the gene, but if this occurs, then condition can get even more severe because their child is born with two copies of a mutated gene.

Familial Hypercholesterolemia Risk Factors

FH is more common among specific ethnic groups like French Canadians, Lebanese, the Finnish, and Afrikaners from South Africa. However, this doesn’t necessarily mean that only people from these groups are prone to this condition. Every person whose parent has this disease is at risk.

Signs and Symptoms of Familial Hypercholesterolemia

Cholesterol, in general, is called a silent killer and usually has no symptoms. This means that damage is, often, done long before the person even notices that something is wrong. Some signs and symptoms can be:

  • Angina from heart disease.
  • Fatty skin deposits (xanthomas) on person’s elbows, knees, tendons, or buttocks.
  • Cholesterol deposits around person’s eyelids.
  • Cholesterol deposits around the corneas.

Cholesterol levels are revealed through blood tests. If both total and LDL cholesterol are much higher than normal, that could be a sign of this condition.

How is Familial Hypercholesterolemia Diagnosed?

It is impossible to diagnose it by yourself even if your parent has this condition. The best and the only right way to do so is to visit the doctor who will perform various tests to determine the diagnosis. These tests are:

  • Physical exam – Whenever you visit a doctor, regardless of your condition, they will perform a physical exam. This exam helps your doctor identify all fatty deposits or lesions that formed on your body as the result of increased level of lipoproteins. The doctor will ask you about your medical history, if anyone else from your family suffers from certain condition and various questions about your nutrition program or lifestyle in order to determine whether the condition is genetic or non-genetic.
  • Blood tests – The doctor will order blood tests that will show cholesterol levels in your body. If you have this condition, then test results will show that you have high levels of total cholesterol and LDL or bad cholesterol, as mentioned above. If you do have FH, your blood test results will look like this:

    1. Total Cholesterol: In adults – more than 300 mg/dL, in children – more than 250 mg/dL

    2. LDL Cholesterol: In adults – more than 220 mg/dL, in children – more than 170 or 200 mg/dL.

  • Other tests – your doctor may perform other tests to make sure diagnose is accurate. These tests are genetic test which is intended to show whether you have defective gene or not, and testing the connective tissue cells (fibroblasts) to determine how your body absorbs the cholesterol.

Are there any Treatments for this Condition?

Just like with non-genetic cholesterol condition, FH is also treated with medication and diet changes. Sometimes, the combination of both approaches is needed to deal with this condition and reduce* the cholesterol. When your doctor sets the diagnosis, he or she will usually suggest that you exercise, eat healthier foods a few months before they prescribe adequate medication. Dealing with FH usually comes down to:

Lifestyle changes – if you are diagnosed with familial hypercholesterolemia, your doctor may suggest a strict diet which only includes 30% calories that come from fat. Your physician will, probably, suggest that you:

1. Don’t include coconut oil and palm oil into your diet
2. Use low-fat dairy products instead of full-fat products
3. Limit consumption of meats like pork, chicken, lamb, and beef.
4. Eliminate* egg yolks
5. Realize the importance of diet and exercise in process of lowering cholesterol levels.

Drug therapy – As it was mentioned above, doctor will suggest lifestyle changes a several months before prescribing an adequate medication for this condition. The most common drugs for reducing* LDL cholesterol are Statins e.g. simvastatin (Zohor), rosuvastatin (Crestor) etc.

NOTE: Do not be your own pharmacist and do not look for over-the-counter medication to lower the cholesterol. Your doctor can prescribe the most adequate medication for you and your condition and health state. Some medications can easily harm you and cause many other medical complications.

What to Eat?

People with this condition should make sure they eat foods which contain fiber. Some studies discovered that eating 25mg of fiber per day lowers risk of heart disease.
Foods that you should eat: nuts, seeds, whole grains, legumes, carrots, apples, bananas, berries, kidney beans, and other fruits and vegetables.

Read More: Extraordinary Health Benefits of Vegetables

Familial Hypercholesterolemia and Heart Attack

Heart attack is one of medical complications that can occur in your body due to FH. Due to the fact that cholesterol can narrow down arteries and cause blood clots, various cardiovascular diseases can occur. Moreover, high cholesterol level is considered as the most common cause of heart attack. High level of LDL cholesterol in the body increases* the person’s risk of getting heart attack. By following the logic, people who have FH have higher levels of both total cholesterol and LDL cholesterol which means these people are even more prone to heart attack.

According to the National Human Genome Research Institute men who have familial hypercholesterolemia condition have heart attack between their 40s and 50s. Moreover, 85% of men with this condition have heart attack by the time they are 60. This means that men who suffer from this condition are at risk to suffer from heart attack in their 40s. Women with FH are in somewhat better situation. They too have a higher risk of getting heart attack, but it usually happens 10 years later than in men. This means that minimal age for women with FH to suffer from heart attack is between 50 and 60.

Other health complications that are result of FH are:

  • Other cardiovascular diseases (besides heart attack)
  • Stroke.

Can I Prevent Familial Hypercholesterolemia?

This condition is genetic and you cannot prevent it. If you and your partner want to have a baby, then the best solution for you is to go to genetic counseling before you conceive. On the other hand, if you inherited this condition from one or both of your parents, then in order to live longer you have to make some lifestyle changes.

Outcome of this condition depends on how you adjust to it; by exercising, eating healthy foods and taking medications. It is of huge importance to control your cholesterol levels.

Must Watch: Familial Hypercholesterolemia (FH): Disease Animation by Genzyme

FAQ

When Do Symptoms Appear?
The appearance of symptoms depends on the severity of the condition. Some people experience some symptoms and are diagnosed with FH in childhood, and there are also people who are diagnosed with this condition later in life.

My Sister/Brother Is Diagnosed With FH, But My Cholesterol Levels Are Normal. Is There Any Chance This Condition Can Pass On To My Children?
This is a genetic condition which means that if you inherited FH you will have increased level of LDL. Additionally, your children will have 50% risk of getting this condition as well.

If someone from your family has FH, but you do not, then you WON’T pass this condition onto your children. However, if your brother or sister has FH and your own cholesterol is on borderline or slightly elevated, then there is a chance that your children might inherit FH as well.

In these situations, it is always best for you and entire family to visit your doctor who will perform various tests to find out whether your children have FH as well.

Conclusion

Familial hypercholesterolemia is a severe genetic condition that is indicated by high level of both total and LDL cholesterol. It is inherited, can’t be cured, but it is treatable with lifestyle changes, exercise, and usage of prescribed medication.

References

  • http://www.healthline.com/health/familial-hypercholesterolemia#Overview1
  • https://www.genome.gov/25520184

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Author

Expert Author : Dr. Ahmed Zayed (Consumer Health Digest)

Dr. Ahmed Zayed Helmy holds a baccalaureate of Medicine and Surgery. He has completed his degree in 2011 at the University of Alexandria, Egypt. Dr. Ahmed believes in providing knowledgeable information to readers. Other than his passion for writing, currently he is working as a Plastic surgeon and is doing his masters at Ain shams University.