Some people with FH may have visible physical signs including swollen tendons on the back of the heel, the elbows or the knuckles, and also yellow deposits in the skin around the eyes. A white deposit of cholesterol in the shape of a circle (at 6 and 12 o’clock) may also be seen at the edge of the colored part of the eye.
CAUSES
In FH there is a change in the gene that codes for the LDL-receptor. This receptor sits on the surface of cells, especially liver cells, and can be thought of as a tentacle-like molecule that removes cholesterol-containing LDL-C particles from the blood. The change in the LDL-receptor gene results in an abnormal or reduced number of LDL-receptors, making them unable to remove LDL-Cholesterol from the blood. This is the cause of FH.
RISK FACTORS
FH is suspected if there is a family history of heart attack or stroke early in life. If a person suffers a heart attack before the age of 50-60, it may be due to high cholesterol and blood cholesterol levels must be investigated in the family.
