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Am I having Tangiers
disease ?

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

1. Why blood cholesterol is higher in
familial hypercholesterolemia ?
2. What is Tangiers disease ?

Familial Hypercholesterol
Genetically inherited condition of
high level of LDL (low density
lipoprotein) cholesterol because can
not remove LDL cholesterol from
bloostream properly.

FOCUS 1 :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 will get

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

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.

Focus 2 : 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.

Tangier disease due to mutation in ABCA1 gene

which official name is ATP binding cassette
subfamily A member 1. provides instructions for
making proteins that transport molecules across
cell membranes
ABCA1 protein moves across the cell membrane to
the outside of the cell. Then picked up by a protein
called apolipoprotein A-I (apoA-I), which is produced
from the APOA1 gene. ApoA-I, cholesterol, and
phospholipids combine to make high-density
lipoprotein (HDL),

Sign and symptom of Tangier

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

HDL(High-Density Lipoprotein)
good cholesterol


High density dense compared to other types of

cholesterol particles
HDL cholesterol levels - greater than 60 mg/dl
thats good :)
less than 40 mg/dl thats not so good (higher
risk of heart attack)

How to boost up the HDL level

exercise (can help pump up HDL )
Quit smoking
Healthy weight ( avoid obesity )
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.

Different tangier and familial

Tangier disease

Familial hypercholesterolemia

Due to mutation in ABCA1 gene

Due to mutation in LDLR gene.

Autosomal recessive

It can be from heterozygous

parent. But if homozygous, it
more critical
High LDL
Lack of LDL receptor make LDL
not transported from the

Less of transport of cholesterol
from bloodstream

He have familial hypercholesterolemia. Because:
Have high LDL
Total of cholesterol more than 300
Mother have hypercholesterolemia and this is inherited
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
Change to healthy dietary.