Familial hypercholesterolemia is a genetic disorder caused by mutations on chromosome 19 that reduce the number of LDL receptors. This leads to extremely high levels of LDL cholesterol in the blood. Symptoms include cholesterol deposits seen as yellow patches on the eyelids or other areas, atherosclerosis which causes restricted blood flow, and other issues like fatigue or shortness of breath. Medical tests can confirm high cholesterol levels while genetic testing identifies the specific mutation. Treatment focuses on lifestyle changes to reduce fat intake and cholesterol-lowering drugs like lovastatin or pravastatin which lower LDL levels.

1. FAMILIAL
HYPERCHOLESTEROLEMIA
By Desree, Meredith, Emmett, Alicia

2. CAUSE: ­ chromosome 19
­ autosome

3. CAUSE:
­ chromosome 19
LDLR, APOB,
LDLRAP1, PCSK9

4. CAUSE:
LDL = 1 of 5 lipoproteins
Transports cholesterol
LDLR mutation reduces
number of LDL

5. CAUSE:
Autosomal dominant
75% chance of
Inheritance

50% chance of
inheritance 

6. Continued...
100% chance of
inheritance


7. Overview
Familial hypercholesterolemia is a disorder
in which cholesterol levels are extremely high.
What is cholesterol though?
Cholesterol is a sterol, a sort of fat.
It is one of three major classes of lipids
which all animal cells use to construct their membranes
Cholesterol is needed to make hormones,
bile, steroids and vitamin D. All steroid hormones
are synthesised from cholesterol.

8. Overview con't
There are 6 Important steroidal
hormones: these include
Adrogenics: Important because DHEA/testosterone are
critical for libido, bone density, memory and anti­aging
Estrogens: critical for sexual development and
various functions for the health of bones and brain
Vitamin D: (functions as a steroidal hormone)
is converted in the liver and has
hundreds of vital immune supporting
functions such as calcium regulation in blood.

9. Cholesterol
Cholesterol is insoluble in water, and
is transported in the blood as lipoproteins.
Low density lipoproteins (LDL) is the major
carrier of cholesterol in humans
If the LDL receptors are mutated and do not work properly,
there can be extremely high amounts of LDL
cholesterol in the blood (Hypercholesterolemia)
These can form cholesterol deposits,
and lead to other complications

10. Symptoms
Effects that FH can have include:
­Cholesterol deposits
­Atherosclerosis
­Fatigue
­Pain
­Indigestion
­Shortness of breath

11. Cholesterol Deposits
Cholesterol deposits can cause visible signs however
Visible symptoms can be seen most distinctively
in yellow patches around the eyelids (xanthomas)
Also found accumulating in lumps around
tendons in the hands, knees, and feet,
particularly the Achilles tendon
The patches are either white or yellow lumps.
This is the colour of cholesterol

12. Atherosclerosis
This is the formation of plaque in the arteries due to excess
cholesterol. As more cholesterol is deposited,
it hardens (plaque). This restricts and can clog the blood
supply leading to many complications
that can also increase your chance of heart attack.

13. Other Effects
Many of the other complications
(fatigue, shortness of breath) are direct results of
atherosclerosis on the respiratory and
circulatory system. Pain is caused by blood trying to
squeeze through narrowed arteries that are reduced
in size by plaque build up.

14. MEDICAL TESTS
Physical examination
Reveals xanthomas

15. MEDICAL TESTS
Questions:
Strong family history?
High LDL levels in one or both parents?
Blood Test:
Total cholesterol:
Higher than 300mg/dL
LDL cholesterol:
Higher than 220mg/dL

16. LOW­DENSITY LIPOPROTEIN
PURPOSE: Transportation of Cholesterol

17. TREATMENTS
LIFESTYLE CHANGES:
Used several months before trying drugs.
Must reduce intake of fat by 30%

18. DRUGS
LOVASTATIN (MEVACOR)
Lowers total cholesterol
Also lowers LDL cholesterol

19. LOVASTATIN con't
MILD SIDE EFFECTS: SERIOUS SIDE EFFECTS:
Stomach pain/nausea Muscle pain
Gas Tenderness
Bloating Weakness
Heartburn Flu­like symptoms
Constipation Dark Urine
Diarrhea Birth Defects
Rhamdomyolysis

20. DRUGS
PRAVASTATIN (PROVACHOL)
Lowers blood cholesterol

21. PRAVASTATIN con't
MILD SIDE EFFECTS: SERIOUS SIDE EFFECTS:
Fatigue Chest pain
Stomach pain Muscle pain/Tenderness
General pain Combined with Flu symptoms
Rash Clay coloured stools
Cold/Flu symptoms Jaundice
Headache/Dizziness Fever
Heartburn/Gas/Bloating Loss of appetite