Cholesterol is made by your liver or obtained from your food. Regardless of the source, high levels of cholesterol in your bloodstream increase your risk of developing cardiovascular disease. Many of the things you do contribute to high cholesterol levels, including your dietary habits and your weight. Your genes can also cause you to have high cholesterol levels in the form of familial hypercholeterolemia.
How Cholesterol Is Regulated
Your body needs cholesterol to make steroid hormones, bile and cell membranes, so the transport and synthesis of cholesterol is carefully regulated. Your liver is particularly active in controlling cholesterol levels as it is the site of cholesterol synthesis and also can pull excess cholesterol out of the blood. Your cholesterol levels can also be altered by how efficiently your body is able to pull cholesterol out of your bloodstream.
Familial Hypercholesteremia
Familial hypercholestermia arises from a genetic mutation on chromosome 19. The gene that is affected with this condition codes for a protein that is responsible for transporting LDL cholesterol, also known as the "bad" cholesterol, out of the blood. This causes LDL to accumulate to high levels in your blood. This is an autosomal dominant condition, which means that you only need one mutated gene to develop this problem and you can get the gene from either of your parents.
Effects of Familal Hypercholesteremia
One of the hallmarks of familial hypercholesteremia is elevated LDL levels even at a young age, which causes you to develop a condition known as atherosclerosis. Atherosclerosis makes your arteries narrow and stiff. According to the National Human Genome Research Institute, men with familial hypercholestermia typically have heart attacks in their 40s and 50s; 85 percent of men with this condition have had a heart attack by the age of 60. Women also are more prone to heart attacks, though they typically get them in their 50s and 60s.
Diagnosis and Treatment
Familial hypercholesteremia is usually diagnosed based on high blood cholesterol levels at an early age, and heart function may also be impaired. Doctors can do genetic testing to identify the mutation on the 19th chromosome which causes this condition to confirm the diagnosis. The goal in treating familial hypercholestermia is to lower LDL cholesterol levels. This is usually done using a combination of changes to the diet, weight loss, exercise and medications.
