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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 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?
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.
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.
SYMPTOMS
Differences:
Hypercholesterolemia
Tangier Disease