Familial hypercholesterolemia
Familial Hypercholesterolemia (pronunciation: fa·mil·ial hy·per·cho·les·ter·ol·emia) is a genetic disorder characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein (LDL), in the blood and early cardiovascular disease. The term originates from the Latin familia meaning family, hyper meaning excessive, and cholesterolemia referring to cholesterol in the blood.
Overview
Familial Hypercholesterolemia is an autosomal dominant disorder, meaning that it is inherited from one parent. It is caused by mutations in genes that are responsible for the removal of LDL cholesterol from the body. The most commonly affected gene is the LDL receptor gene, but mutations in the ApoB gene or the PCSK9 gene can also cause the disorder.
Symptoms
The main symptom of Familial Hypercholesterolemia is high LDL cholesterol levels. This can lead to the development of xanthomas, which are fatty deposits often found in tendons and on the elbows, knees, and buttocks. Individuals with this disorder are also at an increased risk of developing early cardiovascular disease, including coronary artery disease and stroke.
Diagnosis
Diagnosis of Familial Hypercholesterolemia is based on blood tests showing high levels of LDL cholesterol, physical examination for the presence of xanthomas, and family history of high cholesterol or early heart disease. Genetic testing can confirm the diagnosis.
Treatment
Treatment for Familial Hypercholesterolemia typically involves lifestyle changes such as a healthy diet and regular exercise, along with medication to lower cholesterol levels. In some cases, a procedure called LDL apheresis may be used to physically remove LDL cholesterol from the blood.
See Also
External links
- Medical encyclopedia article on Familial hypercholesterolemia
- Wikipedia's article - Familial hypercholesterolemia
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