Familial hypercholesterolemia is characterized by extremely high levels of cholesterol in the blood, which results from a mutated gene.
Cholesterol is a steroid fat molecule that occurs naturally in the body. It is essential to the structure of all membranes and is used to synthesize steroid hormones. Certain fatty proteins or lipoproteins in the blood help to transport cholesterol. They are HDL (High Density Lipoprotein) or the 'good' cholesterol, and LDL (Low Density Lipoprotein) or the 'bad' cholesterol.
When excess LDL cholesterol builds up in the blood, it results in hypercholesterolemia. This increases the risk of coronary heart conditions. Anyone with unhealthy lifestyle choices can develop hypercholesterolemia, however when it has a genetic cause, it becomes familial hypercholesterolemia.
Familial hypercholesterolemia is a hereditary condition caused by a mutated gene. This mutated gene prevents the body from removing LDL cholesterol from the blood, leading to an excess build up and high levels of cholesterol. This condition cannot be cured, but with a combination of lifestyle changes and medication, it can be managed.
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