Cholesterol is a substance produced in your liver that you need for a variety of vital purposes, including hormone production, protection of your nerves and formation of cell walls throughout your body. If you have a disorder called familial hypercholesterolemia, you lack the ability to properly remove excess cholesterol from your bloodstream. The functional result of this inability is a highly dangerous overproduction or overabundance of cholesterol inside your body.
Basics
Roughly 75 percent of your circulating blood cholesterol comes from your liver and other cells in your body, while the remaining 25 percent comes from consumption of animal-based foods, according to the American Heart Association. If you have too much "bad" LDL cholesterol in your bloodstream, you have an increased risk for the formation of a substance called plaque, which hardens and narrows your arteries and dangerously reduces your blood flow. Normally, potentially dangerous levels of LDL are lowered by a "good" form of cholesterol called HDL, which removes LDL from your blood and transports it for elimination.
Familial Hypercholesterolemia
Familial hypercholesterolemia is caused by a specific genetic mutation that disrupts the cholesterol elimination process. In most cases, the trait for this disorder is passed down to a child from one parent. However, in some rare cases, both parents have hypercholesterolemia. When this occurs, the children of these parents will have particularly high levels of cholesterol production that seriously magnify their risks for both heart disease and heart attack. The effects of familial hypercholesterolemia typically manifest early in life and individuals with the disorder can experience a heart attack regardless of their age.
Symptoms and Diagnosis
If you have hypercholesterolemia, potential symptoms of your disorder include signs of coronary artery disease like chest pain, the formation of cholesterol deposits in your eyelids called xanthelasmas and the formation of cholesterol deposits called xanthomas in areas of your body such as your buttocks, knees, elbows and tendons. In addition to a physical examination designed to detect the presence of cholesterol deposits, your doctor will typically diagnose your condition with cholesterol testing of your blood, examination of the cells in your body that normally absorb LDL cholesterol and direct testing for hypercholesterolemia-related gene mutation.
Treatment Considerations
The main goal of treatment for hypercholesterolemia is reduction of your heart disease risks, Medline Plus reports. Potential options in a treatment plan include reduction of your intake of cholesterol and saturated fat, regular exercise, weight loss and the use of cholesterol medications such as statins, fibrates and nicotinic acid. If you inherited hypercholesterolemia from both parents, your doctor may have significant difficulty controlling your condition. In severe cases of the disorder, he may need to artificially filter your blood to remove its excess cholesterol content.
