what is the cause of the familial hypercholesterolemia course

Familial hypercholesterolemia is commonly caused by mutation in the gene for the LDL cholesterol receptor, which is involved in passing LDL from the body. Mutations in other genes can also cause inherited high cholesterol.

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What is the prognosis of familial hypercholesterolemia (FH)?

Apr 13, 2022 · Familial hypercholesterolemia is caused by a genetic mutation that limits the body’s ability to remove LDL cholesterol from the bloodstream. It’s relatively common for a rare disease, affecting...

How to diagnose familial hyperlipidemia?

Dec 26, 2013 · The altered gene (gene mutation) that causes familial hypercholesterolemia is located on chromosome number 19. It contains the information for a protein called LDL receptor that is responsible to clear up LDL from the blood stream. One in 500 individuals carries one altered gene causing familial hypercholesterolemia.

What is heterozygous familial hypercholesterolemia?

Nov 08, 2020 · Familial hypercholesterolemia is commonly caused by mutation in the gene for the LDL cholesterol receptor, which is involved in passing LDL from the body. Mutations in other genes can also cause inherited high cholesterol. Those genes include the PCSK9 gene and the gene for Apolipoprotein B.

What is familial hyperlipidemia?

Jun 18, 2015 · Familial hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood due to mutations in the LDLR gene. People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease, as well as health problems related to the buildup of excess cholesterol in other tissues (e.g., in the …

What is the cause of familial hypercholesterolemia?

Familial hypercholesterolemia (FH) can be caused by inherited changes (mutations) in the LDLR, APOB, and PCSK9 genes, which affect how your body regulates and removes cholesterol from your blood. About 60-80% of people with FH have a mutation found in one of these three genes.

How is familial hypercholesterolemia inherited?

Familial hypercholesterolemia is inherited in families in an autosomal dominant manner. In autosomal dominant inherited conditions, a parent who carries an altered gene that causes the condition has a 1 in 2 (50 percent) chance to pass on that altered gene to each of his or her children.Dec 26, 2013

What are the effects of familial hypercholesterolemia?

Familial hypercholesterolemia is an inherited genetic condition that is present from birth (congenital) and causes high levels of low density lipoprotein (LDL), sometimes known as "bad cholesterol." These high levels of LDL cholesterol occur due to a genetic mutation that prevents the body from removing LDL cholesterol ...

Is familial hypercholesterolemia caused by a chromosomal abnormality or a genetic mutation?

Familial hypercholesterolemia is a genetic disorder. It is caused by a defect on chromosome 19. The defect makes the body unable to remove low density lipoprotein (LDL, or bad) cholesterol from the blood. This results in a high level of LDL in the blood.Jun 25, 2020

Is FH caused by a genetic mutation?

FH is caused by a mutation in one of three genes: the low-density lipoprotein cholesterol receptor (LDLR), Apolipoprotein B gene (APOB), or a gain-of-function mutation in the gene for proprotein convertase subtilisin/kexin type-9 (PCSK9).Dec 6, 2017

What is the most common cause of hypercholesterolemia?

Causes. Mutations in the APOB, LDLR, LDLRAP1, or PCSK9 gene cause familial hypercholesterolemia. Changes in the LDLR gene are the most common cause of this condition. The LDLR gene provides instructions for making a protein called a low-density lipoprotein receptor.Sep 28, 2020

What is familial hypercholesterolemia?

Familial hypercholesterolemia is an inherited condition that causes high levels of low density lipoprotein (LDL) cholesterol beginning at birth and heart attacks at an early age.

Why is LDL cholesterol high?

People who have familial hypercholesterolemia have high levels of LDL cholesterol because they can not remove the LDL from the blood stream properly. The organ responsible for the removal of the LDL is the liver. High levels of LDL cholesterol in the blood increase the risk for heart attacks and heart disease.

What does it mean when your chest hurts?

If angina (chest pain) is present, it may be sign that heart disease is present. Individuals who have homozygous familial hypercholesterolemia develop xanthomas beneath the skin over their elbows, knees and buttocks as well as in the tendons at a very early age, sometime in infancy.

What happens if you have too much cholesterol?

However, if too much cholesterol is present in the blood stream, it builds up in the wall of the arteries and increases the risk of heart disease. Cholesterol is carried in the blood stream in small packages called lipoproteins. These small packages are made up of fat (lipid) on the inside and proteins on the outside.

How does atherosclerosis work?

The overall goal of treatment is to lower the risk for atherosclerotic heart disease by lowering the LDL cholesterol levels in the blood stream. Atherosclerosis is a condition in which fatty material collects along the walls of arteries. This fatty material thickens, hardens, and may eventually block the arteries.

Does cholesterol build up in the bloodstream?

However, if too much cholesterol is present in the blood stream, it builds up in the wall of the arteries and increases the risk of heart disease.

Is familial hypercholesterolemia inherited?

Familial hypercholesterolemia is inherited in families in an autosomal dominant manner. In autosomal dominant inherited conditions, a parent who carries an altered gene that causes the condition has a 1 in 2 (50 percent) chance to pass on that altered gene to each of his or her children.

What causes FH?

Familial hypercholesterolemia is commonly caused by mutation in the gene for the LDL cholesterol receptor, which is involved in passing LDL from the body . Mutations in other genes can also cause inherited high cholesterol. Those genes include the PCSK9 gene and the gene for Apolipoprotein B.

When should kids get cholesterol checked?

All children should have their cholesterol checked between age 9 and 11 and again between ages 17 and 21. Children may be started on medication as early as age 8 or 10 if their cholesterol is high enough or if their family history makes it prudent.

How many people have FH?

One in about 200 adults have the FH genetic mutation. Including children, FH affects about 1.3 million in the U.S. But only about 10% are aware they have it. If left untreated, people with FH typically develop coronary heart disease.

What is a FH?

Familial hypercholesterolemia (FH) is an inherited defect in how the body recycles LDL (bad) cholesterol. As a result, LDL levels in the blood remain very high – in severe cases, levels can reach above 190 milligrams per deciliter (mg/dL) of blood. People with FH are essentially born with high LDL cholesterol.

Can FH be treated?

But people with FH have an excellent prognosis if the condition is identified early and treated appropriately. Familial hypercholesterolemia can’t be treated by diet and exercise alone.

Does PCSK9 lower cholesterol?

This, in turn, lowers the amount of cholesterol that gets into the bloodstream. Injectable medications, known as PCSK9 inhibitors, can also lower cholesterol levels. These medications target and block the PCSK9 protein, which frees up more receptors on liver cells to remove LDL cholesterol from blood.

Does FH cause high cholesterol?

Everyone’s cholesterol levels tend to rise with age. But those with FH have LDL levels that start high and go even higher over time. Just like with non-inherited cholesterol issues, this contributes to atherosclerotic plaques, leading to a much higher-than-normal risk of coronary heart disease .

What is familial hypercholesterolemia?

Familial hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood due to mutations in the LDLR gene. People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease, as well as health problems related to the buildup of excess cholesterol in other tissues (e.g., in the tendons and skin). Familial hypercholesterolemia tends to be passed through families in an autosomal dominant fashion. There are other hereditary forms of hypercholesterolemia caused by mutations in the APOB, LDLRAP1, or PCSK9 gene. However, most cases of high cholesterol are not caused by a single inherited condition, but result from a combination of lifestyle choices and the effects of variations in many genes. [1]

What is MedlinePlus Genetics?

MedlinePlus Genetics contains information on Familial hypercholesterolemia. This website is maintained by the National Library of Medicine.

What is a registry?

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Familial hypercholesterolemia. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry.

Why is research important?

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

What is the white line on the cornea?

Corneal arcus (an opaque, white line within the margin of the cornea that is above or surrounds the cornea) Xanthelasmas (cholesterol deposits on, above or under the eyelids) Men who have FH may have heart attacks in their 40s to 50s, and 85% of men with the disorder have a heart attack by age 60. Affected women may have heart attacks in their 50s ...

How to change your eating habits?

This may be accomplished by limiting the amount of beef, pork, and lamb in the diet; cutting out butter, whole milk, fatty cheeses and oils; and eliminating egg yolks, organ meats and other sources of saturated fat from animals. Dietary counseling is often recommended to help individuals change their eating habits.

Who makes Repatha?

Evolocumab (Brand name: Repatha) - Manufactured by Amgen Inc. FDA-approved indication: As an adjunct to diet and other LDL-lowering therapies (e.g., statins, ezetimibe, LDL apheresis) in patients with HoFH who require additional lowering of LDL-C. National Library of Medicine Drug Information Portal.

What is the name of the disease that occurs when you inherit familial hypercholesterolemia from both parents?

Homozygous familial hypercholesterolemia is very rare, occurring in about 1 in 160,000 to one million people worldwide. Most individuals with homozygous familial hypercholesterolemia experience severe coronary artery disease by their mid-20s and the rate of either death or coronary bypass surgery by the teenage years is high. Severe aortic stenosis is also common.

What happens if you have inherited hypercholesterolemia?

If you have inherited this genetic mutation from one parent, then you will have Heterozygous familial hypercholesterolemia. Heterozygous familial hypercholesterolemia occurs in 1 in 250 people worldwide. Most people with familial hypercholesterolemia have one affected gene and one normal gene (heterozygous familial hypercholesterolemia). An estimated 70%-95% of familial hypercholesterolemia results from a heterozygous pathogenic variant in one of three genes (APOB, LDLR, PCSK9).

Why is it important to have a healthy lifestyle?

Because obesity and smoking are risk factors for heart disease and those with familial hypercholesterolemia are already at a 20 times higher risk, it is important to adapt to a healthy lifestyle. Nearly 100% of people with familial hypercholesterolemia will require cholesterol-lowering medications.

How often is LDL apheresis done?

Apheresis literally means “to take out.” In the case of LDL-apheresis, LDL cholesterol is physically removed from the blood. Blood is removed from one arm, specially treated to remove the LDL cholesterol, then returned into the other arm. The procedure, which typically takes between 2-4 hours, can lower LDL by as much as 80% and also dramatically lowers Lp (a). Unfortunately, over a short period of time a person’s level rebounds – this is why it needs to repeated frequently. Although for obvious reasons (scientists will always know who is getting the procedure and who is not), it is impossible to conduct placebo-controlled trials to assess the effectiveness of LDL-apheresis. Several studies have compared the outcomes of patients receiving medications along with LDL-apheresis to those receiving medications without LDL-apheresis. It appears that long term use of LDL-apheresis may reduce cardiac risk anywhere from 44 – 72% above and beyond the use of medications alone. Finally, if your doctor has recommended LDL-apheresis it is likely that your LDL [or Lp (a)] remains very high despite maximally tolerated cholesterol lowering medications.

How to diagnose homozygous familial hypercholesterolemia?

Homozygous familial hypercholesterolemia can be diagnosed through genetic testing (DNA testing) or a clinical diagnosis utilizing one of three well-accepted sets of criteria — Simon Broome (UK), Dutch Lipid Clinic Network (Netherlands), or MEDPED (US).

What is the blood cholesterol level?

Adults with familial hypercholesterolemia may have untreated low-density lipoprotein (LDL-C) “bad” cholesterol levels that range from 190mg/dL to 400mg/dL or even higher.

How long does it take for LDL to drop?

The procedure takes between one and a half to three hours, and typically drops LDL levels by 70%. Unfortunately, LDL rises over time and, for this reason, repeat treatments are necessary. About 60 lipoprotein apheresis centers exist in the US.

What is the best treatment for high cholesterol in children?

Diet and exercise are the best initial treatment for children age 2 and older who have high cholesterol, or who are obese. Children age 10 and older might be prescribed cholesterol-lowering drugs, such as statins, if they have extremely high cholesterol levels.

How does the liver use cholesterol?

This prompts your liver to use excess cholesterol to make more bile acids, which reduces the level of cholesterol in your blood. Cholesterol absorption inhibitors. Your small intestine absorbs the cholesterol from your diet and releases it into your bloodstream.

What medications can lower triglycerides?

If you also have high triglycerides, your doctor may prescribe: 1 Fibrates. The medications fenofibrate (Tricor) and gemfibrozil (Lopid) decrease triglycerides by reducing your liver's production of very-low-density lipoprotein (VLDL) cholesterol and by speeding up the removal of triglycerides from your blood. VLDL cholesterol contains mostly triglycerides. 2 Niacin. Niacin (Niaspan) decreases triglycerides by limiting your liver's ability to produce LDL and VLDL cholesterol. But niacin doesn't usually provide any additional benefit than using statins alone. Niacin has also been linked to liver damage and stroke, so most doctors now recommend it only for people who can't take statins. 3 Omega-3 fatty acid supplements. Omega-3 fatty acid supplements can help lower your triglycerides. They are available by prescription or over-the-counter. If you choose to take over-the-counter supplements, get your doctor's OK first. Omega-3 fatty acid supplements could affect other medications you're taking.

What is the drug that lowers cholesterol?

Bile-acid-binding resins. Your liver uses cholesterol to make bile acids, a substance needed for digestion. The medications cholestyramine (Prevalite), colesevelam (Welchol) and colestipol (Colestid) lower cholesterol indirectly by binding to bile acids.

Can you take niacin with statins?

Niacin has also been linked to liver damage and stroke, so most doctors now recommend it only for people who can't take statins. Omega-3 fatty acid supplements. Omega-3 fatty acid supplements can help lower your triglycerides. They are available by prescription or over-the-counter.

Does Repatha lower LDL cholesterol?

The Food and Drug Administration recently approved alirocumab (Praluent) and evolocumab (Repatha) for people who have a genetic condition that causes very high levels of LDL.

How many genetic mutations are there in familial hypercholesterolemia?

It is estimated that there are about 700 possible genetic mutations that affect the gene responsible for the synthesis of “bad” cholesterol, which explains its high incidence. Having a genetic origin, prevention is more difficult. And people have to always fight and adopt very healthy lifestyles to prevent the problem from getting worse.

What is secondary hypercholesterolemia?

Secondary hypercholesterolemia refers to all those cases in which the increase in the amount of cholesterol in the blood it is the symptom of another disease. Endocrine (such as hypothyroidism or diabetes), liver (liver disease) and kidney (kidney disease) disorders usually have, as a symptom or as a side effect, an increase in cholesterol levels.

What are the causes of cardiovascular disease?

There are many factors that lead to developing cardiovascular disorders, from being overweight to physical inactivity, through alcoholism, poor diet, genetic inheritance, sedentary lifestyle (physical inactivity) and, of course, high cholesterol levels. In this sense, hypercholesterolemia, which is defined as an increase in cholesterol levels ...

Is hypercholesterolemia a secondary problem?

The main problem of hypercholesterolemia is, unless it is secondary and there are clinical signs of the disease causing the increase in cholesterol, which does not give symptoms. Until complications appear, there is no way to know that blood cholesterol levels are too high.

Is there a cure for hypercholesterolemia?

Obviously, there is treatment for hypercholesterolemia, but it is usually pharmacological in nature and linked to side effects that can sometimes be serious. Therefore, treatment should be the last resort. The best treatment is prevention.

Why is cholesterol important?

In the form of lipoprotein (lipid + protein), cholesterol is absolutely necessary for the proper functioning of the body. Their presence in the blood is vital, since the body needs these fats to form the membrane of all our cells, as well as to form hormones, absorb nutrients, metabolize vitamins and maintain a good fluidity of the blood.

What are the factors that determine your health?

The environmental (lifestyle) factor is the most determining factor. Maintain a healthy weight, play sports, eat a diet low in processed and animal fats, do not smoke (or quit), drink alcohol in moderation, manage stress, get enough sleep, reduce salt intake, eat plenty of fruits , vegetables and cereals ….