CHOLESTEROL

Tangier disease
NURUL
FAHADIS
BINTI
MOHAMMAD
YUSOFF
LIM LEE WEN
MOHAMMAD
ALIF BIN AZMI
MURAT
SITI
RAIMI

D201410
66892
D201410
66909
D20141
066890
D20141

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
factor.

Effects
of hypercholesterolemia
cholesterol
levels may also be secondary to the
Abnormal
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

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.

Symptoms of Tangier disease

slightly elevated amount of fat in the blood (mild hypertriglyceridemia)
disturbances in nerve function/ brain dysfunction (neuropathy);
enlarged, orange-colored tonsils.
affected individuals often develop atherosclerosis, which is an
accumulation of fatty deposits and scar-like tissues in the lining of
arteries.
enlarged spleen (splenomegaly), an enlarged liver (hepatomegaly),
enlarged of lymph nodes.
clouding of the clear covering of the eye (corneal clouding).
type 2 diabetes.

 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.

Comparison between the symptoms of

hypercholesterolemia and Tangiers disease
Hyperchole
sterolemia

Tangiers
disease

Low
concent
ration of
plasma
high
density
lipoprot
ein
(HDL)
and
high
concent
ration of
plasma
low
density
lipoprot
ein

Low
concent
ration of
plasma
in both
high
density
lipoprot
ein
(HDL)
and low
density
lipoprot
ein
(LDL).
HDL
deficien
cy (<5