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FAMILIAL 
HYPERCHOLESTEROLEMIA

 By Desree, Meredith, Emmett, Alicia
CAUSE:   ­ chromosome 19
         ­ autosome
CAUSE:
­ chromosome 19 
LDLR, APOB,
LDLRAP1, PCSK9
CAUSE: 
LDL = 1 of 5 lipoproteins
Transports cholesterol 
LDLR mutation reduces 
number of LDL
CAUSE:
Autosomal dominant
                        75% chance of 
                        Inheritance

                        
   50% chance of 
   inheritance      
Continued...


               100% chance of 
               inheritance
               
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.
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.
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
Symptoms
Effects that FH can have include:
      ­Cholesterol deposits
         ­Atherosclerosis
             ­Fatigue
               ­Pain
           ­Indigestion
       ­Shortness of breath
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
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.
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.
MEDICAL TESTS
Physical examination
          Reveals xanthomas
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
LOW­DENSITY LIPOPROTEIN




PURPOSE: Transportation of Cholesterol
TREATMENTS

        LIFESTYLE CHANGES:

Used several months before trying drugs.

   Must reduce intake of fat by 30%
DRUGS
LOVASTATIN (MEVACOR)


        Lowers total cholesterol
      Also lowers LDL cholesterol
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
DRUGS
PRAVASTATIN (PROVACHOL)
  Lowers blood cholesterol
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

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Familial hypercholesterolemia