Familial Hypercholesterolemia
(FM)
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By: Tiffany Simmons
Genetics-pd. 6
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Hypercholesterolemia is just another way of saying that a
person has a high level of bad cholesterol.
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Familial Hypercholesterolemia is when this high level of
bad cholesterol is passed down through the family. This is
usually detected once the baby is born. This condition can
also cause early age heart attacks
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Having “bad” levels of high cholesterol is also having a low
density of lipoprotein (LDL)
 Lipoprotein or LDL is a type of protein,
having to much lipoprotein in the
blood system can cause the clogging of
arteries.
 Type II hyperlipoproteinemia;
Hypercholesterolemic xanthomatosis;
Low density lipoprotein receptor
mutation
Hypercholesterolemia has the word Familial in
front of it because this disease is passed down
through the genes of the parents.
 Hypercholesterolemia can first occur by there
being a defect on chromosome 19. This defect
does not allow the body to remove LDL
cholesterol from the body, therefore causing the
body to have extremely high amounts of LDL
 Since chromosome 19 is defected it makes
Familial Hypercholesterolemia a chromosomal
mutation.
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Familial Hypercholesterolemia can absolutely be passed
down to future generations.
It can be passed down in what is called an autosomal
dominant manner.
Autosomal dominant means that only one parent has to have
the gene in order for any of the offspring to get it.
In extremely rare cases both parents can have this abnormal
chromosome and the child gets the gene from both
parents.
This would be a more severe case of familial
hypercholesterolemia and the child would have an even
higher risk of having heart disease or heart attack.
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The phenotypic effects of familial hypercholesterolemia can
be pretty bad.
One effect is xanthoma. This is when fat builds up under the
surface of the skin.
Another effect is xanthelasmas is the same thing as xanthoma,
but around your eyelid.
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When a doctor notices high levels of LDL or sees any
xanthomas then he would run a few tests and diagnose the
patient with familial hypercholesterolemia or not. The doctor
will also check the family background to see any early histories
of heart attacks or heart diseases.
To treat Familial hypercholesterolemia patients usually have to
revise how they eat. A healthy diet of non fatty foods and plenty
of exercise will help to reduce the LDL levels in the blood
significantly. Reducing fat and reducing cholesterol is the key to
make LDL levels a lot more safer. To reduce fat ear less beef,
pork, and lamb
Choosing low-fat dairy products
Avoiding coconut and palm oil
By not eating
Egg yolks
Organ meats
Sources of animal-derived saturated fat will reduce cholesterol
Usually patients that have only received one
mutated gene from one parent will be fine with
the diet and exercise.
 Any other patients who have received the gene
from both of their parents will have a nit of a
tougher time getting their LDL levels to be at a
safe amount
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http://emedicine.medscape.com/article/121298-overview
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http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseas
eID=10416
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http://ghr.nlm.nih.gov/condition=hypercholesterolemia
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http://adam.about.com/encyclopedia/infectiousdiseases/Familialhypercholesterolemia.htm
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http://www.nlm.nih.gov/medlineplus/ency/article/000392.htm
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http://www.umm.edu/ency/article/000392.htm
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http://www.genome.gov/25520184.