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 lipidswhich 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 cont There are 6 Important steroidal hormones: these includeAdrogenics: 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 humansIf 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
SymptomsEffects that FH can have include: Cholesterol deposits Atherosclerosis Fatigue Pain Indigestion Shortness of breath
Cholesterol DepositsCholesterol deposits can cause visible signs howeverVisible 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 tendonThe patches are either white or yellow lumps. This is the colour of cholesterol
AtherosclerosisThis 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 TESTSPhysical examination Reveals xanthomas
MEDICAL TESTSQuestions:Strong family history?High LDL levels in one or both parents?Blood Test:Total cholesterol:Higher than 300mg/dLLDL cholesterol:Higher than 220mg/dL
LOWDENSITY LIPOPROTEINPURPOSE: Transportation of Cholesterol
TREATMENTS LIFESTYLE CHANGES:Used several months before trying drugs. Must reduce intake of fat by 30%
DRUGSLOVASTATIN (MEVACOR) Lowers total cholesterol Also lowers LDL cholesterol
LOVASTATIN contMILD SIDE EFFECTS: SERIOUS SIDE EFFECTS:Stomach pain/nausea Muscle painGas TendernessBloating WeaknessHeartburn Flulike symptomsConstipation Dark UrineDiarrhea Birth Defects Rhamdomyolysis