What is Primary Hypercholesterolemia?

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  • Written By: J.M. Willhite
  • Edited By: Heather Bailey
  • Last Modified Date: 14 January 2020
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Primary hypercholesterolemia is a genetic condition that adversely affects an individual’s low density lipoprotein (LDL) cholesterol. Those diagnosed with this congenital condition are more susceptible to cardiovascular issues, such as atherosclerosis, due to their excessively high LDL levels. Often manifesting at a young age, primary hypercholesterolemia necessitates conscientious measures regarding diet, exercise, and lifestyle to avoid complications. Treatment for this condition often requires the use of medication to reduce and regulate cholesterol levels.

Individuals with primary, or familial, hypercholesterolemia often inherit their condition from one of their parents or, more rarely, from both parents. Originating with a chromosomal mutation, familial hypercholesterolemia often manifests with tell-tale signs that may be used to aid with establishing a diagnosis based on family history and the visual presentation of one's symptoms. Diagnostic tests, including a heart stress test and blood work, may be employed to confirm a diagnosis. Individuals with a family history of primary hypercholesterolemia are considered to be at an increased risk for heart attack, heart disease, and stroke. Proactive measures are often encouraged for these individuals to prevent disease progression, complications, and premature death.


Those with primary hypercholesterolemia often exhibit fatty nodules under their skin that are yellowish in color, known as xanthomas. These nodules frequently present around the joints, such as the knees and elbows, and may also develop on the face. Fatty deposits that accumulate in the eyes, known as corneal arcus, may lead to a yellowing of the whites of the eyes and impair one’s vision. Some people with primary hypercholesterolemia may develop chronic chest pain, a condition known as angina, which is often considered a precursor to the development of heart disease.

Obesity is another common presentation in those with familial hypercholesterolemia, developing at a young age and remaining a constant throughout adulthood. The body's inability to process fatty substances and expel low density lipoproteins from the bloodstream act to further foster one’s obesity and impair his or her metabolism. The persistent presence of high LDL levels often contributes to the extremely premature onset of atherosclerosis in some individuals.

The first approach in treatment for primary hypercholesterolemia is generally the implementation of dietary changes to lessen one’s risk for cardiovascular problems and reduce the continued accumulation of fatty deposits. Individuals are frequently encouraged to avoid certain types of foods rich in fat and cholesterol. Regular exercise is recommended to foster the adoption of a healthy lifestyle and promote weight loss. Those who do not respond adequately to the adoption of healthy eating habits and regular exercise may be placed on medication to help facilitate the lowering of their cholesterol and weight. Individuals who inherit the condition from both parents are generally considered at a greater risk for complications, including heart attack and premature death.


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