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.
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
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.