Familial hypercholesterolemia is a genetic disorder that causes the person to have high cholesterol levels, and will commonly lead to cardiovascular diseases. if you inherit this mutation from only one of your parents, you have Heterozygous FH (1:300-500), and if you inherit it from both your parents you have homozygous FH (1:1,000,000). Heterozygous FH is fairly common and can be treated. This Mutation is caused by a point mutation on chromosome 19. The main problem of the disease is that it makes the body unable to remove low density lipoprotein (LDL) cholesterol from the blood. This results in high levels of LDL in the blood.
The problem with having high cholesterol levels in your blood means that you are very prone to cardiovascular disease or heart attacks. people with Heterozygous FH can expect to devolved Cardiovascular disease by 30-40 years old, while people with homozygous FH could expect to have heart problems during childhood. FH hetero or homo also have a physical symptom, small yellow patches of cholesterol that appear above the eyes, around the iris or on the tendons of hands, knees and feet. while Heterozygous FH can be treated with liver stains, in Homozygous FH liver stains are only modestly affective and often needing surgery to the liver. If you or someone you know has tis condition, they should make sure they have aspirin (if they can take it) and a cell phone on them at all times, do to the high risk of heart attacks and/or anginas.