Inheritance of “Familial Hypercholesterolemia” is:
**Core Concept**
Familial Hypercholesterolemia (FH) is a genetic disorder characterized by elevated levels of low-density lipoprotein (LDL) cholesterol in the blood. It is caused by mutations in the LDL receptor gene, which leads to impaired clearance of LDL cholesterol from the bloodstream.
**Why the Correct Answer is Right**
The correct answer is due to the autosomal dominant inheritance pattern of FH. This means that a single copy of the mutated LDL receptor gene is sufficient to cause the condition. When a parent with FH has a child, there is a 50% chance that the child will inherit the mutated gene and express the condition. The LDL receptor gene mutations lead to impaired function of the LDL receptor, resulting in reduced clearance of LDL cholesterol from the bloodstream. This is due to the receptor's inability to bind to apolipoprotein B (ApoB) on the LDL particles, which is essential for their uptake by the liver.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect because Familial Hypercholesterolemia is not caused by a mutation in the ApoB gene, but rather in the LDL receptor gene.
**Option B:** This option is incorrect because Familial Hypercholesterolemia is not inherited in an autosomal recessive pattern, but rather in an autosomal dominant pattern.
**Option C:** This option is incorrect because Familial Hypercholesterolemia is not caused by an excess of LDL receptors, but rather by a defect in their function.
**Clinical Pearl / High-Yield Fact**
It's essential to note that Familial Hypercholesterolemia is a treatable condition, and early diagnosis and treatment can significantly reduce the risk of cardiovascular disease. This includes the use of statins, ezetimibe, and PCSK9 inhibitors to lower LDL cholesterol levels.
**Correct Answer:** C. Autosomal dominant inheritance