Primary hypercholesterolemia is a genetic condition that negatively affects an individual's low-density lipoprotein (LDL) cholesterol. People diagnosed with this congenital condition are more susceptible to cardiovascular problems, such as atherosclerosis, due to their excessively high levels of LDL. Often manifesting at a young age, primary hypercholesterolemia requires conscientious measures regarding diet, exercise, and lifestyle to avoid complications. Treatment for this condition often requires the use of medications to lower and regulate cholesterol levels.
People 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 presents with telltale signs that can be used to help establish a diagnosis based on family history and visual presentation of symptoms. Diagnostic tests, including a cardiac stress test and blood tests, may be used to confirm a diagnosis. People with a family history of primary hypercholesterolemia are considered to be at increased risk for heart attack, heart disease, and stroke. Proactive measures are often recommended for these individuals to prevent disease progression,
People with primary hypercholesterolemia often have yellowish fatty nodules under their skin, known as xanthomas. These nodules frequently occur around the joints, such as the knees and elbows, and can also develop on the face. Fatty deposits that build up in the eyes, known as corneal arches, can cause a yellowing of the whites of the eyes and affect vision. Some people with primary hypercholesterolemia can 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 people with familial hypercholesterolemia, which develops at an early age and remains constant throughout adulthood. The body's inability to process fatty substances and expel low-density lipoproteins from the bloodstream acts to further promote obesity and damage your metabolism. The persistent presence of high LDL levels often contributes to the extremely early onset of atherosclerosis in some people.
The first approach in the treatment of primary hypercholesterolemia is generally the implementation of dietary changes to decrease the risk of cardiovascular problems and reduce the continuous accumulation of fatty deposits. People are often encouraged to avoid certain types of foods high in fat and cholesterol. Regular exercise is recommended to encourage a healthy lifestyle and promote weight loss. Those who do not respond adequately to adopting healthy eating habits and regular exercise can be given medication to help reduce their cholesterol and weight. People who inherit the condition from both parents are generally considered to be at higher risk for complications, including a heart attack and premature death.