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Primary hypercholesterolemia is a genetic condition that causes high levels of LDL cholesterol, leading to cardiovascular problems. Familial hypercholesterolemia is inherited from one or both parents and can cause obesity and atherosclerosis. Treatment includes dietary changes, exercise, and medication.
Primary hypercholesterolemia is a genetic condition that negatively affects an individual’s low-density lipoprotein (LDL) cholesterol. People who have been diagnosed with this congenital condition are more susceptible to cardiovascular problems, such as atherosclerosis, due to their abnormally high LDL levels. Often occurring at a young age, primary hypercholesterolaemia requires conscientious dietary, exercise, and lifestyle measures to avoid complications. Treatment for this condition often requires the use of medications to lower and regulate cholesterol levels.
Individuals with primary or familial hypercholesterolaemia often inherit their condition from one of their parents or, more rarely, both parents. Originating from a chromosomal mutation, familial hypercholesterolemia often manifests with telltale signs that can be used to help establish a diagnosis based on family history and the visual presentation of one’s symptoms. Diagnostic tests, including a cardiac stress test and blood tests, may be employed to confirm a diagnosis. Individuals with a family history of primary hypercholesterolemia are considered to be at increased risk of 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 show yellowish-colored fatty nodules under the skin, known as xanthomas. These lumps frequently occur around joints, such as the knees and elbows, and can also develop on the face. Fatty deposits that build up in the eye, known as the arcus cornealis, can lead to a yellowing of the whites of the eyes and impair vision. Some people with primary hypercholesterolaemia may develop chronic chest pain, a condition known as angina, which is often considered a precursor to developing heart disease.
Obesity is another common presentation in individuals with familial hypercholesterolaemia, which develops at a young age and remains a constant throughout adulthood. The body’s inability to process fatty substances and excrete low-density lipoproteins from the bloodstream further promotes obesity and impairs metabolism. The persistent presence of high LDL levels often contributes to the extremely premature onset of atherosclerosis in some individuals.
The first approach in the treatment of primary hypercholesterolaemia is generally the implementation of dietary changes to reduce the risk of cardiovascular problems and reduce the continuous accumulation of fat deposits. Individuals are often encouraged to avoid certain types of foods high in fat and cholesterol. Regular exercise is recommended to encourage the adoption of a healthy lifestyle and promote weight loss. Those who do not respond adequately to adopting healthy eating habits and regular exercise may be placed on medications to help lower cholesterol and weight. Individuals who inherit the condition from both parents are generally considered to be at higher risk for complications, including heart attack and early death.
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