what is familial hypercholesterolemia and how is it inherited

How do I know if I have familial hypercholesterolemia?

• Skin. The most common spots for cholesterol deposits to occur is on the hands, elbows and knees. They also can occur in the skin around the eyes.
• Tendons. Cholesterol deposits may thicken the Achilles tendon, along with some tendons in the hands.
• Eyes. High cholesterol levels can cause corneal arcus, a white or gray ring around the iris of the eye. ...

Does familial hypercholesterolemia have a cure?

Treatment. Familial hypercholesterolemia treatment focuses on reducing the extremely high levels of LDL (bad) cholesterol. This helps lower the risk of heart attack and death. Medications. Most people with familial hypercholesteremia will need to take more than one medication to control their LDL cholesterol levels. Options include:

Is there a cure for homozygous familial hypercholesterolemia?

There is no cure for homozygous familial hypercholesterolemia, the most severe form of FH. This extremely rare form of the disease occurs in less than one in a million people, and when an individual has it, they often go through a period of time where they try a number of different treatments before they find a combination of therapies that successfully minimizes their symptoms without ...

What causes homozygous familial hypercholesterolemia?

What causes homozygous familial hypercholesterolemia? 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.

What is the most common cause of familial hypercholesterolemia?

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.

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.

How do you get familial hypercholesterolemia?

Familial hypercholesterolemia is caused by a gene alteration that's passed down from one or both parents. People who have this condition are born with it. This change prevents the body from ridding itself of the type of cholesterol that can build up in the arteries and cause heart disease.

What is familial hypercholesterolemia in simple terms?

Familial hypercholesterolemia is a disorder that is passed down through families. It causes LDL (bad) cholesterol level to be very high. The condition begins at birth and can cause heart attacks at an early age.

At what age is familial hypercholesterolemia diagnosed?

Data from the FH Foundation's CASCADE (Cascade Screening for Awareness and Detection) FH registry demonstrated that the diagnosis of FH occurred at a mean age of 50 years, by which time more than one third of the patients with FH had already experienced an atherosclerotic cardiovascular disease (ASCVD) event.

What diet is best for familial hypercholesterolemia?

A diet rich in high-fiber foods like fruits, vegetables, whole grains, lentils, and beans combined with unsaturated fats found in foods such as olive oil, some nuts, and fatty fish can help reduce LDL and protect your heart.

What is the life expectancy of someone with hypercholesterolemia?

A: Without treatment, the life expectancy of those with familial hypercholesterolemia can be reduced by approximately 15-30 years. However, in people with homozygous familial hypercholesterolemia, the life expectancy may only be 20 years or less.

How can I lower my familial cholesterol naturally?

The Challenge of FH Lowering cholesterol naturally by eating a healthy diet, exercising regularly, not smoking and limiting exposure to secondhand smoke is often the only treatment they need.

What foods cause hypercholesterolemia?

What foods cause high cholesterol?Red Meat. Beef, lamb, and pork – these are high in saturated fats and contain more cholesterol. ... Whipped Cream. Made with whole milk, whipped cream is loaded with fat.Butter. ... Processed Meats. ... Cheese. ... Fried Foods. ... Microwave Popcorn. ... Commercial Baked Goods.More items...•

What are the signs and symptoms of familial hypercholesterolemia?

These physical signs of FH occur when extra cholesterol builds up in different parts of the body:Bumps or lumps around your knees, knuckles, or elbows.Swollen or painful Achilles tendon.Yellowish areas around your eyes.A whitish gray color in the shape of a half-moon on the outside of your cornea.

What is the best treatment for hypercholesterolemia?

Statins — Statins are one of the best-studied classes of medications and the most commonly used drugs for lowering LDL cholesterol. They are the most effective drugs for prevention of coronary heart disease, heart attack, stroke, and death.

What are the worst foods for high cholesterol?

High-cholesterol foods to avoidFull-fat dairy. Whole milk, butter and full-fat yogurt and cheese are high in saturated fat. ... Red meat. Steak, beef roast, ribs, pork chops and ground beef tend to have high saturated fat and cholesterol content. ... Processed meat. ... Fried foods. ... Baked goods and sweets. ... Eggs. ... Shellfish. ... Lean meat.

What type of inheritance does familial hypercholesterolemia display quizlet?

Familial Hypercholesterolemia (FH) is an example of incomplete dominance in humans.

What type of mutation causes familial hypercholesterolemia?

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).

Is FH a dominant or recessive gene?

Familial hypercholesterolemia (FH; OMIM ID-143890) is an autosomal dominant inherited disease, the cause of which is most often a variant in the gene for the LDL receptor (LDLR), less often a variant in the gene for its ligand, apolipoprotein B 100 (APOB).

How can you explain the likelihood of future generations having FH?

The gene mutation that causes FH is autosomal dominant. This means that a parent with the disorder has a 50% chance of passing that gene to each of his or her children. If a child inherits the gene, because it is dominant, he or she will have the disorder.

What is the treatment for familial hypercholesterolemia?

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. Atherosclerosis happens when fat and cholesterol and other substances build up in the arteries and form a hardened material called plaque. The plaque deposits make the arteries less flexible and more difficult for blood to flow leading to heart attack and stroke.

How many years later do you get a heart attack from familial hypercholesterolemia?

Women who have familial hypercholesterolemia also have an increased risk for heart attack, but it happens 10 years later than in men (so in their 50's and 60's).

What is the name of the disease that is caused by a mutated copy of the gene causing familial?

A person who inherits a mutated copy of the gene causing familial hypercholesterolemia from both parents is said to have homozygous familial hypercholesterolemia. This is a much more severe form of familial hypercholesterolemia than heterozygous familial hypercholesterolemia.

What is the inherited condition that causes high levels of low density lipoprotein (LDL) cholesterol?

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 is the protein that clears LDL from the bloodstream?

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. These individuals are called heterozygotes.

What is cholesterol made of?

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. There are two main kinds of lipoprotein that carry cholesterol throughout the body. These are: low density lipoprotein (LDL) and high density lipoprotein (HDL).

How is familial hypercholesterolemia inherited?

When familial hypercholesterolemia is caused by mutations in the LDLRAP1 gene, the condition is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means the condition results from two altered copies of the gene in each cell. The parents of an individual with autosomal recessive hypercholesterolemia each carry one copy ...

What are the factors that contribute to familial hypercholesterolemia?

In these cases, the cause of the condition is unknown. Both genetic and environmental risk factors play roles in familial hypercholesterolemia. Lifestyle choices including diet, exercise, and tobacco smoking strongly influence the amount of cholesterol in the blood and the risk of coronary artery disease.

What is a common inherited condition characterized by very high levels of cholesterol in the blood?

Description. Familial hypercholesterolemia is an inherited condition characterized by very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products).

What happens when a gene is unable to remove cholesterol from the blood?

Mutations in any of these genes prevent cells from making functional receptors or alter the receptors' function. Hypercholesterolemia results when low-density lipoprotein receptors are unable to remove cholesterol from the blood effectively.

What is the LDLR gene?

The LDLR gene provides instructions for making a protein called a low-density lipoprotein receptor. This type of receptor binds to particles called low-density lipoproteins (LDLs), which are the primary carriers of cholesterol in the blood.

How many people have familial hypercholesterolemia?

Familial hypercholesterolemia affects an estimated 1 in 200 to 1 in 250 people in most countries and is thought to be the most common inherited condition affecting the heart and blood vessels (cardiovascular disease). The condition occurs even more frequently in certain populations, including Afrikaners in South Africa, Lebanese, and Tunisians.

Where is hypercholesterolemia deposited?

As the excess cholesterol circulates through the bloodstream, it is deposited abnormally in tissues such as the skin, tendons, and coronary arteries. Less commonly, familial hypercholesterolemia is caused by mutations in the APOB, LDLRAP1, or PCSK9 gene. Proteins produced from these genes are essential for the normal function ...

How many genes are affected by familial hypercholesterolemia?

Most people with familial hypercholesterolemia have one affected gene and one normal gene. In rare cases, a person inherits an affected copy from both parents, which can lead to a more severe form of the condition.

What is the effect of familial hypercholesterolemia on the body?

Familial hypercholesterolemia affects the way the body processes cholesterol. As a result, people with familial hypercholesterolemia have a higher risk of heart disease and a greater risk of early heart attack.

Why is LDL cholesterol considered bad?

LDL cholesterol is known as "bad" cholesterol because it can build up in the walls of the arteries, making them hard and narrow.

Why is cholesterol high?

With familial hypercholesterolemia, a person's risk of high cholesterol is higher because a defect (mutation) in a gene changes how the body processes cholesterol.

What is the defect that prevents the body from ridding itself of the type of cholesterol that can build up in?

This defect prevents the body from ridding itself of the type of cholesterol that can build up in your arteries and cause heart disease. This type of cholesterol is called low-density lipoprotein but it's also commonly known as LDL or bad cholesterol. LDL cholesterol can cause your arteries to get hard and narrow.

Can a child get hypercholesterolemia from both parents?

Most people who have the condition got one affected gene. But in rare cases, a child can get the affected gene from both parents. This can cause a more severe form of the condition.

Symptoms and Causes

Symptoms of familial hypercholesterolemia may not be obvious until you have coronary artery disease. People with familial hypercholesterolemia need treatment much earlier than that because their LDL level starts out high even as a newborn.

Diagnosis and Tests

Your healthcare provider can make a familial hypercholesterolemia diagnosis based on:

Management and Treatment

Your provider will want to cut down your LDL level by 50%. To do this, people with both types of familial hypercholesterolemia need medications. If you have homozygous FH, you also may need multiple medications (statins and PCSK9 inhibitors) or — in people with severe FH — LDL apheresis (blood filtering like dialysis).

Prevention

Although you can’t prevent an inherited disease like familial hypercholesterolemia, you can reduce your risk of atherosclerosis. You can change your diet, exercise and take any medicines your provider prescribes.

Living With

If you have familial hypercholesterolemia, you can lower your risk of cardiovascular problems in these ways:

What is FH testing?

Genetic testing for familial hypercholesterolemia (FH) looks for inherited genetic changes in three different genes ( LDLR, APOB, and PCSK9) known to cause FH. If your doctor suspects that you have FH or a family member has been diagnosed with FH, your doctor may refer you for genetic counseling and testing for FH.

Can you be tested for FH mutation?

Interpretation of genetic testing results may differ, depending on whether or not someone in your family has already had an FH-causing mutation found through genetic testing. If the FH-causing mutation that runs in your family is known, you should be tested for that mutation.

Does genetic testing help with familial hypercholesterolemia?

Genetic Testing for Familial Hypercholesterolemia. Most people with a personal or family history of heart disease or high blood cholesterol do not have FH, so genetic testing will not help them. Genetic testing for familial hypercholesterolemia (FH) looks for inherited genetic changes in three different genes ( LDLR, APOB, ...