Final answer:
Familial hypercholesterolemia leads to extremely high levels of blood cholesterol due to defects in LDL receptor or ApoB gene, posing increased cardiovascular risk and necessitating early management.
Step-by-step explanation:
Familial hypercholesterolemia results in extremely high levels of blood cholesterol. This condition is characterized by a defect in the LDL receptor gene or the ApoB gene, leading to a decrease in the clearance of low-density lipoprotein (LDL) cholesterol, which results in its accumulation in the blood. This can lead to various health issues including the development of atherosclerosis and coronary disease at an unusually young age.
Type IIa Familial hypercholesterolemia is particularly noted for hyperbetalipoproteinemia and increased plasma total cholesterol. It can be substantially influenced by genetics, and affected individuals may exhibit signs such as tendon xanthomas, xanthelasma, and be at increased risk of premature cardiovascular disease.
Hyperlipoproteinemia, which includes familial hypercholesterolemia, is characterized by raised or abnormal levels of lipids and/or lipoproteins in the blood. Understanding and managing familial hypercholesterolemia is vital for reducing the risk of severe cardiovascular complications.