Am I having Tangiers

disease ?

RESPONSIBILITY
NAME

MA
TRI
C
NO

RESPONSI
BILITY

MAHIRAH
BINTI
ZAINAL
ABIDIN

D20
141
066
914

INTRODUC
TION AND
ANALYSIS
ON
FAMILIAL
HYPERCH
OLESTERO
LEMIA,

NUR LIYANA
BT A RAZAK

D20
141
066
902

SIGN &
SYMPTOM,
ANALYSIS,
CONCLUSI
ON
TANGIER
S DISEASE

RONDY
AZHAR
CHONG
KIONG

D20
141
066
912

CAUSES,
DIAGNOSE
D AND
DIFFEREN

KIT

NADIRAH
BINTI
ZAINAL
ABIDIN

D2014
10669
14

PROBLE
M
STATEM
ENT,
ANALYS
IS CASE
AND
HDL IN
TANGIE
RS
DISEAS
E

NUR
SYAFINAS
BINTI ASLAN

D2014
10669
05

HDL
AND
BIOCHE
MICAL
SIGNS
IN
TANGIE
RS
DISEAS
E

MERINY
JOREEN
ANAK
MATIAS

D2014
10669
15

IMPORT
ANCE,
GENE
MUTATI
ON, AND

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.

Analysis Case
Total cholesterol=
more than 300mg/dL
LDL cholesterol=
more than 220 mg/dL
Triglyceride level=
below 150 mg/dL
Mother having
hypercholesterol
Still young
Have healthy lifestyle
(nad &yana)

FOCUS
1. What is Tangiers disease ?
2. Why blood cholesterol is higher in
familial hypercholesterolemia ?
(yan&nad)

Focus 1 : What is Tangiers

disease ?
- Autosomal recessive genetic disorder
which is the condition of almost
completely absence of HDL (high
density level) that functioning as
attaching with cholesterol in order for
breaking down at liver.

izyan

WHAT CAUSES TANGIER

DISEASE?
Tangier disease due to mutation in ABCA1
gene which official name is ATP binding
cassette subfamily A member 1., which
provides instructions for making proteins
that transport molecules across cell
membrane.

izyan

Where is the ABCA1 gene

located?

The ABCA1 gene is located on the long (q) arm of chromosome 9 at position
31.1.
More precisely, the ABCA1 gene is located from base pair 104,781,002 to
base pair 104,928,246 on chromosome 9.
(meriny &yan)

What is the importance of

ABCA1 gene?
ABCA1 gene provides instructions making proteins that
transport molecules across membranes.
The ABCA1 protein is produced in many tissues, with
high amounts found in the liver and in immune system
cells called macrophages.
This protein moves cholesterol and certain fats called
phospholipids across the cell membrane to the outside
of the cell.
These substances then picked up by a protein called
apolipoprotein and combine to make high-density
lipoprotein (HDL).
meriny

 HDL= often referred to as good cholesterol because

high levels of this substance reduce the chances of
developing

heart

and

blood

vessel

disease.

HDL is a molecule that carries cholesterol and

phospholipids through the bloodstream from the bodys
tissues

to

the

liver.

The process of removing excess cholesterol from cells

is extremely important for balancing cholesterol levels
and

maintaining

cardiovascular

meriny

health.

HDL (High-Density Lipoprotein)

the good cholesterol

nad&syafinas

Biochemical signs of Tangier

Disease
HDL concentrations= less than 5mg/dL
Low total cholesterol= below 150mg/dL
Normal or high triglycerides= more than or equal to
150mg/dL

meriny&syafinas

Sign and Symptom of

Tangier
Disease
Risk of cardiovascular disease

Slightly elevated amount of fat in the blood

Disturbance in nerve function
Enlarged body
Orange-colored tonsils
Often develop atherosclerosis that is
accumulation of fatty deposits and scar-like tissue
in the lining of the arteries
Enlarged spleen
Enlarged liver
Corneal clouding
Type 2 diabetes
liyana &farhana

How to boost up the HDL level

Exercise (can help pump up HDL )
Quit smoking
Healthy weight ( avoid obesity )
medications
Niacin-to increase HDL cholesterol and
have least side effects.
Fibrates- medications fenofibrate and
gemfibrozil can help increase HDL
cholesterol level
Statins-block a substance liver needs to
make cholesterol and this will reduces
cholesterol in liver cells which causes
liver to remove cholesterol from blood.
liyana &nad

FOCUS 2 :Why blood cholesterol is

higher in familial
hypercholesterolemia ?
- Alteration of gene on chromosome
number 19 containing information of
protein, LDL receptor responsible to
clear up LDL cholesterol
The defect makes the body unable to
remove low density lipoprotein (LDL, or
"bad") cholesterol from the blood. The
condition is typically passed down
through families in an autosomal
dominant manner which means only
inherit abnormal gene from one parent

What is
hypercholesterolemia ?

Hypercholesterolemia is a condition characterized by very

high levels of cholesterol in the blood
People with hypercholesterolemia have a high risk of
developing a form of heart disease called coronary artery
disease.
This condition occurs when excess cholesterol in the
bloodstream is deposited in the walls of blood vessels,
particularly in the arteries that supply blood to the heart
(coronary arteries)

The abnormal buildup of cholesterol forms clumps (plaque)

that narrow and harden artery walls. As the clumps get
bigger, they can clog the arteries and restrict the flow of blood
to the heart
(mahirah)

mahirah&liyana

Other problems ?
health problems related to the buildup of excess
cholesterol in other tissue
If cholesterol accumulates in tendons, it causes
characteristic growths called tendon xanthomas
Yellowish cholesterol deposits under the skin of the
eyelids are known as xanthelasmata
(Janathu)

What are genes affecting

them ?
1. APOB,
2. LDLR,
3. LDLRAP1,
4. PCSK9
(Janathu)

Talking about LDLRAP1

gene..

When hypercholesterolemia is caused by mutations in

the LDLRAP1(Low-density lipoprotein receptor adapter protein 1) gene,
the condition is inherited in an autosomal recessive
pattern.
Autosomal recessive inheritance means the condition
results from two altered copies of the gene in each cell.
The parents of an individual with autosomal recessive
hypercholesterolemia each carry one copy of the
altered gene, but their blood cholesterol levels are
usually in the normal range.
(janathu)

Mutations in the LDLR gene

Those who suffers familial
hypercholestrolemia have mutations
in the LDLR gene that encodes the
LDL receptor protein, which normally
removes LDL from circulation.
Some of these genetic changes
reduce the number of low-density
lipoprotein receptors produced within
cells.
Other mutations disrupt the

"Autosomal" means that the gene in question is located on

one of the numbered, or non-sex, chromosomes.
"Dominant" means that a single copy of the diseaseassociated mutation is enough to cause the disease.

aisyahsukor

Sign and symptom

Hereditary. It can be from heterozygous parent
but if homozygous parent, its the worst.
Heart disease at young age
Angina from heart disease
Xanthomas (fatty skin deposits) on the elbows,
buttocks, knees, and tendons
Cholesterol deposits around the eyelids, also
known as xanthelasmas
Cholesterol deposits around the corneas, also
known as corneal arcus

(yana&ron)

How it can diagnosed

From blood test
Total cholesterol:
in children, it will be more than 250 mg/dL
in adults, it will be more than 300 mg/dL
LDL cholesterol:
in children, it will be more than 170-200
mg/dL
in adults, it will be more than 220 mg/dL
The doctor will also test triglycerides,
which are made up of fatty
acids.Triglyceride levels tend to be normal
in patients with this genetic condition.
Normal results are below 150 mg/dL.

Similarities between Tangier

disease and familial
hypercholesterolemia
@Same blood test result:
High LDL level
Normal triglyceride levels

@Low level of HDL

@Genetic disorder

rondy azhar

Different tangier and familial

hypercholesterol
Tangier
disease

Familial
hyperchole
sterolemia

Due to
mutation in
ABCA1
gene

Due to
mutation in
LDLR gene.

Autosomal
recessive

It can be
from
heterozygou
s parent.
But if
homozygou
s, it more
critical
Autosomal

RONDYAZHAR &yana

Condition
The signs and symptoms of Tangiers
disease and familial
hypercholestrolemia are almost
similar. But, He does not have
Tangier Disease, because:
@ he does not have mild hypertriglycemia
@ he does not experienced any physical symptoms such as
cloudy cornea, enlarged tonsils, orange or yellow tonsils
@ he does not experienced any internal defects such as
enlarged spleen or liver and premature ather0sclerosis
rondy azhar

Conclusion
He have familial hypercholesterolemia. Because:
Have high LDL (Low Density Lipoprotein)
Total of cholesterol more than 300 mg/dL
Mother have hypercholesterolemia and this is
inherited disease.
Still
young.
Symptom
of
familial
hypercholesterolemia is get disease in young
age.
Have
healthy
lifestyle.
Being
familial
hypercholesterolemia is not mean not have
healthy lifestyle.
Action must take is
Make therapy with doctor
yana& AISYAH SUKOR
Change to healthy dietary.
fabulous