what is the cause of familial hypercholesterolemia course hero

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What to do when high cholesterol runs in your family?

• Red meat
• Whole milk and other full-fat dairy products
• Butter
• Shellfish
• Eggs

What is familial hypercholesterolemia and how is it inherited?

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. Genetic testing is available to check for mutations in these genes.

What is the prognosis of familial hypercholesterolemia (FH)?

People who have familial hypercholesterolemia have a higher risk of heart disease and death at a younger age. Heart attacks may occur before age 50 in men and age 60 in women. The rarer and more severe variety of the condition, if undiagnosed or untreated, can cause death before age 20. By Mayo Clinic Staff Request an Appointment at Mayo Clinic

What are complications of familial hypercholesterolemia (FH)?

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 cause of familial hypercholesterolaemia?

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.

What is familial hypercholesterolemia and how is it inherited?

Familial hypercholesterolemia is an inherited condition that causes high levels of LDL (low density lipoprotein) cholesterol beginning at birth, and heart attacks at an early age. Cholesterol is a fat-like substance that is found in the cells of the body. Cholesterol is also found in some foods.

What is familial hypercholesterolemia and why does it matter?

FH was described initially as an autosomal dominant disorder caused by mutations in the gene encoding the LDL receptor (LDLR) that resulted in impaired hepatic clearance of circulating LDL particles.

How is homozygous familial hypercholesterolemia caused?

Causes. When you have homozygous familial hypercholesterolemia, you inherit two copies of a gene that isn't working right, one from each of your parents. Normally, the liver removes extra LDL cholesterol from the blood using particles called LDL receptors.

What is the most common cause of hypercholesterolemia?

Hypercholesterolemia Causes Common causes of high cholesterol include: Eating a diet high in saturated fat and trans fat, often found in animal meat and processed foods. Eating foods high in cholesterol, such as red meat and full-fat dairy.

Which genes cause FH?

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).

What does hypercholesterolemia cause?

With high cholesterol, you can develop fatty deposits in your blood vessels. Eventually, these deposits grow, making it difficult for enough blood to flow through your arteries. Sometimes, those deposits can break suddenly and form a clot that causes a heart attack or stroke.

What foods cause hypercholesterolemia?

Foods high in (unhealthy) saturated fats include:processed or deli-style meats (such as ham, bacon and salami)deep fried fast foods.processed foods (such as biscuits and pastries)takeaway foods (such as hamburgers and pizza)fat on meat and skin on chicken.ghee, lard and copha.coconut oil.More items...

What is a familial disease?

A familial disease is hereditary, passed on from one generation to the next. It resides in a genetic mutation that is transmitted by mother or father (or both) through the gametes to their offspring. Not all genetic disorders are familial, however, because the mutation may arise… In human genetic disease.

What is the genotype of familial hypercholesterolemia?

The proband's genotype was confirmed to be compound heterozygous FH, leading to clinical manifestations in line with the homozygous FH phenotype. The phenotype is highly associated with the genotype in this type of compound heterozygous FH.

Does familial hypercholesterolemia cause high cholesterol?

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.

What chromosome is familial hypercholesterolemia on?

chromosome 19Familial hypercholesterolemia is a defect on chromosome 19. It is inherited as an autosomal dominant trait, which means that you only need to get the abnormal gene from one parent to inherit familial hypercholesterolemia.

What is FH mutation?

Remember that FH is an autosomal dominant disorder. The mutation is carried on chromosome 19 (one of the 22 pairs of autosomes, or non-sex chromosomes), and a person needs to only inherit one affected copy to have the disorder.

Does Anna Garcia have high cholesterol?

In the previous activity, you learned that Anna Garcia has abnormally high cholesterol levels. Because of this result, Anna was sent back to the lab for additional testing.