Familial Hypercholesterolemia is a condition that impacts the way that the body processes cholesterol. These patients have a higher risk of heart disease, and they might also suffer from a heart attack early in life. This condition is inherited, and it is actually present from birth. Symptoms do not always appear until adulthood, however.
This condition causes cholesterol to be deposited in portions of the skin or in the tendons or irises of the eyes. This leads to the following symptoms:
In patients who have inherited the condition from both parents, symptoms usually develop in childhood. Any patient with Familial Hypercholesterolemia who does not receive treatment will usually die before the age of 20.
This condition is caused by a gene alteration that is passed down from one or both parents to their children. People who have Familial Hypercholesterolemia are born with it. The change to the genes keeps the body from being able to rid itself of cholesterol that can build up in the arteries or other parts of the body.
The risk factors for this condition are entirely linked to your genetics. If there is a family history of this condition, you could be more likely to have been born with it. Some Lebanese groups, French Canadians, and Ashkenazi Jews are more likely to suffer from this condition than other racial groups.
A detailed family history has to be taken in order to start working toward a diagnosis. If patients are aware that someone in their family has Familial Hypercholesterolemia, they should mention this to their doctor. A physical exam will need to be done, during which a doctor will look for the cholesterol deposits that build up around the hands, knees, elbows, and eyes. The eyes will also need to be examined for signs of this condition.
Cholesterol tests can verify high cholesterol levels in the blood. Patients who have a family with this condition should begin being tested for high cholesterol levels in the blood, starting between the ages of 9 and 11. Adults with this condition will usually have LDL cholesterol over 190 mg/DL, while children with this condition will have LDL cholesterol levels over 160 mg/DL.
Genetic testing can also be done to confirm that the patient has the gene mutation that causes Familial Hypercholesterolemia. However, if the patient is already showing symptoms, this is not likely to be necessary.
This condition cannot be prevented since it is hereditary in nature. Patients who follow their treatment plan carefully should be able to prevent many of the complications associated with this condition.
Treatment usually involves medications like statins or PCSK9 inhibitors. Drugs like Zetia can also help to limit the absorption of cholesterol from foods that you eat. Most of the medications that are used to treat this condition block substances that the liver needs in order to make cholesterol. In severe cases, patients might need to have a procedure done periodically that filters the cholesterol from the blood. Some patients might also need a liver transplant.