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CHOLESTROL

Tangiers disease OR
Hypercholestrol ??
NURUL FAHADIS BINTI MOHAMMAD YUSOFF

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LIM LEE WEN

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MOHAMMAD ALIF BIN AZMI MURAT

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RAIMI

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SITI SUMAIYAH BINTI SAHIDON

D20141066882

WONG PUI YEE

D20141066893

JACQUELINE BITA ASON

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Memberss Task
NURUL FAHADIS BINTI MOHAMMAD YUSOFF

what is tangier disease


what genes are related to tangier disease
how do people inherit tangier disease
how tangier disease occur
conclusion

LIM LEE WEN

what is a cholesterol
how are cholesterol levels checked
effects of hypercholesterolemia

WONG PUI YEE

what is hypercholesterolemia
factors cause hypercholesterolemia
symptoms of hypercholesterolemia

MOHAMMAD ALIF BIN AZMI MURAT

are you at risk of disease


diagram of total cholesterol level and cathegory

RAIMI

similarities between tangier disease and hypercholesterolemia


comparison between the symptoms of hypercholesterolemia and
tangiers disease

SITI SUMAIYAH BINTI SAHIDON

how to treat the disease

JACQUELINE BITA ASON

symptoms of tangier disease


differences of both symptoms

PROBLEM STATEMENT
A form 6 students share a news with you.
I am shocked when I look at my blood test result. My blood total cholesterol is
more than 300 mg/dL, the LDL cholestrol is be more than 220 mg/dL but my
triglyceride levels tend to be normal, which are below 150 mg/dL. I am still
young! I have a healthy life because I do not want to be like my mother who is
having hypercholestrol. Am I having Tangiers disease.
Explain him the condition and things he can do to help himself. Explain what is
Tangiers disease too.

What is a cholesterol?

Cholesterol is a waxy, fat-like substance that is


naturally present in cell walls or membranes
everywhere in the body.

The body uses cholesterol to produce many

hormones, Vitamin D and bile acids that help to digest


fat.

Too much cholesterol in your bloodstream can lead to


narrowing of arteries in the body that cause heart
attacks, strokes, and peripheral artery disease.

How Are Cholesterol Levels


Checked?

Cholesterol levels are checked by a simple blood test. This test measures
total cholesterol, low-density lipoproteins (LDL) cholesterol, high-density
lipoproteins (HDL) cholesterol, and triglycerides. Your health care practitioner
will be able to help you interpret the blood test results to determine if your
cholesterol levels are normal or require treatment.
Cholesterol levels should be measured at least once every five years in
everyone over age 20. The screening test that is usually performed is a blood
test called a lipid profile. Experts recommend that men ages 35 and older
and women ages 45 and older be more frequently screened for lipid
disorders. The lipoprotein profile includes:
Total cholesterol a measure of the total amount of cholesterol in your blood,
including LDL cholesterol and HDL cholesterol.
LDL (low-density lipoprotein cholesterol, also called "bad cholesterol)
HDL (high-density lipoprotein cholesterol, also called "good" cholesterol)
Triglycerides (fats carried in the blood from the food we eat. Excess calories,
alcohol, or sugar in the body are converted into triglycerides and stored in fat
cells throughout the body.)

What is Hypercholesterolemia?

Hypercholesterolemia (also spelled as

hypercholesterolaemia also called dyslipidemia)


is the presence of high levels of cholesterol in the
blood. It is a form of "hyperlipidemia" (elevated levels
of lipids in the blood) and "hyperlipoproteinemia"
(elevated levels of lipoproteins in the blood).

Factors cause hypercholesterolemia


Hereditary factors are the most common cause of high
cholesterol.

A diet high in saturated fat and cholesterol can also increase


blood cholesterol levels. Other disorders, such as diabetes
mellitus, Cushings syndrome and hypothyroidism, may
promote hypercholesterolemia.

The most common cause of inherited high cholesterol is a

condition known as familial hypercholesterolemia, which


results from mutations in the LDLR gene. The LDLR gene
provides instructions for making a protein called a low-density
lipoprotein receptor.

Being overweight or obese can also lead to higher blood LDL


levels, with regular exercise helpful in managing this risk

Symptoms Of
Hypercholesterolemia.
Angina from heart disease
Xanthomas (fatty skin deposits) on the elbows, buttocks, knees, and tendons
Cholesterol deposits around the eyelids, also known as xanthelasmas
Potential signs of FH are having LDL cholesterol above 190 mg/dL in adults and
above 160 mg/dL in children, as well as a family history of high cholesterol and
heart disease (heart attacks, atherosclerosis, etc).
Chest pain or little bumps on the skin (usually appearing on the hands, elbows,
knees or around the eyes)

Effects of hypercholesterolemia
Abnormal cholesterol levels may also be secondary to the following:
Diabetes
Liver or kidney disease
Polycystic ovary syndrome
Pregnancy and other conditions that increase levels of female hormones
Underactive thyroid gland.
Drugs that increase LDL cholesterol and decrease HDL cholesterol (progestins,
anabolic steroids and corticosteroids).

The main risk associated with high cholesterol is coronary heart disease (CHD).
Your blood cholesterol level can increase the risk of getting heart disease. If your
cholesterol is too high, it builds up on the walls of your arteries. A build-up of
cholesterol is part of the process that narrows arteries, called atherosclerosis, in
which plaques form and cause restriction of blood flow.

High cholesterol levels are a result of modifiable and non-modifiable risk factors.
Two major risk factors, diet and exercise, are highly modifiable, meaning that
something can be done to change these risk factors and reduce the likelihood of
having high cholesterol.

What is Tangier
disease?
Tangier disease is an inherited disorder characterized by significantly reduced
levels of high-density lipoprotein (HDL) in the blood.
HDL transports cholesterol and certain fats called phospholipids from the
body's tissues to the liver, where they are removed from the blood.
HDL is often referred to as "good cholesterol" because high levels of this
substance reduce the chances of developing heart and blood vessel
(cardiovascular) disease.
Because people with Tangier disease have very low levels of HDL, they have a
moderately increased risk of cardiovascular disease.

What genes are related to Tangier


disease?

mutations in the abca1 gene cause tangier disease. this gene provides instructions for making a
protein that releases cholesterol and phospholipids from cells. these substances are used to make
hdl, which transports them to the liver.
mutations in the abca1 gene prevent the release of cholesterol and phospholipids from cells. as
a result, these substances accumulate within cells,
causing certain body tissues to enlarge and the tonsils to acquire a yellowish-orange color. a
buildup of cholesterol can be toxic to cells, leading to impaired cell function or cell death.
in addition, the inability to transport cholesterol and phospholipids out of cells results in very low
hdl levels, which increases the risk of cardiovascular disease. these combined factors cause the
signs and symptoms of tangier disease.

How do people inherit


Tangier disease?

inherited in an autosomal recessive pattern, which means both copies of


the gene in each cell have mutations.
the parents of an individual with an autosomal recessive condition each
carry one copy of the mutated gene, but they typically do not show signs
and symptoms of the condition.

HOW TANGIER DISEASE


INHERITED

HOW TANGIER DISEASE OCCUR

Symptoms of Tangier disease

Similarities between Tangier disease and


hypercholesterolemia

Both disease are genetic disorder. The person tends to


having high LDL level. However they have normal triglyceride
levels and low level of HDL.

Differences of Symptoms
Tangiers disease

Hypercholesterolemia

Comparison between the symptoms of


hypercholesterolemia and Tangiers disease
Hypercholesterolemia

Tangiers disease

Low concentration of plasma high density


lipoprotein (HDL) and high concentration of
plasma low density lipoprotein (LDL).
Having LDL cholesterol above 190 mg/dL in
adults and above 160 mg/dL in children.
Xanthomas (fatty skin deposits) on the
elbows, buttocks, knees and tendons.
Xanthelasmas - Cholesterol deposits
around the eyelids.
Corneal ascus - Cholesterol deposits
around the corneas.
Chest pain (angina).
Decreased blood supply to the brain
(transient ischemic attacks or stroke).
Atherosclerosis.

Low concentration of plasma in both high


density lipoprotein (HDL) and low density
lipoprotein (LDL).
HDL deficiency (<5 mg/dL) and extremely
low apoliprotein A-I (ApoA1) levels (<5
mg/dL)
Enlarged orange or yellowish-gray tonsils.
Liver
(hepatomegaly)
,spleen
(splenomegaly) and lymph nodes enlarged.
Atherosclerosis - Accumulation of fatty
deposits and scar-like tissue in the lining of
the arteries.
Corneal clouding - Clouding of the clear
covering of the eye.
Abdominal pain.
Neuropathy - Brain dysfunction.

Are you at risk??

HOW TO TREAT THE DISEASE !


Lifestyle Changes

On a diet with less than 30 percent of total calories coming from fat
limit meats like lamb, beef, chicken, and pork
restrict coconut and palm oils

switch from full-fat dairy to low-fat dairy products


Limiting or eliminating egg yolks will also contribute to lowering your cholesterol.
Diet and exercise are important to maintaining a healthy weight, which can help lower
cholesterol levels.

Drug Therapy
Statins are the most common drugs used to reduce LDL cholesterol. Examples of statins include
simvastatin (Zocor), lovastatin (Mevacor), atorvastatin (Lipitor) and rosuvastatin (Crestor).
Other drugs that lower cholesterol include bile acid-sequestering resins, ezetimibe, nicotinic acid
and fibrates.

CONCLUSION
As a solution from this case, the boys have
hypercholesterolemia, because :
He inherit it from his mother as high cholesterol can run in
families although he having healthy lifestyle
His total cholesterol is more than 300 mg/dL and have high
LDL (Low Density Lipoprotein)
So the best way is he need lower the LDL level and increase
the HDL level by started with a low cholesterol diet plan that
suggested by specialist.
He need to have regular exercise and a healthy diet