Which of the following is true regarding Factor V Leiden mutation?
The question is asking which statement is true about it. The correct answer is probably about the mechanism or the clinical implications. Let me think: Factor V normally is inactivated by activated protein C. The Leiden mutation makes Factor V resistant to this inactivation, so it stays active longer, promoting clotting. That's the core concept here.
Now, the options (A-D) aren't provided, but common distractors might include things like being a bleeding disorder (which it's not), or associating with other mutations like prothrombin gene. Also, maybe confusion with antithrombin III deficiency. The clinical pearl is that Factor V Leiden is the most common inherited thrombophilia in Caucasians. So the correct answer should focus on resistance to activated protein C and increased clot risk.
Wait, the user mentioned the correct answer is "C" but the options aren't given. Hmm. Maybe the actual correct answer is that it's associated with resistance to activated protein C. So I need to structure the explanation around that. Also, the incorrect options might be about other conditions, like being an anticoagulant, or causing bleeding, or being a vitamin K antagonist.
I need to make sure each section is covered: Core Concept, why correct answer is right, why others are wrong, clinical pearl. Let me check if I missed anything. The mechanism involves the factor V gene mutation leading to resistance to protein C. Activated protein C normally inactivates factors Va and VIIIa. If Factor V is resistant, the clotting cascade isn't properly regulated. So the correct answer is about resistance to activated protein C. The wrong options would be other things, like being a deficiency, or causing a different type of disorder.
Clinical pearl: Factor V Leiden is autosomal dominant. Heterozygotes have 5-7 times increased risk, homozygotes much higher. Also, associated with recurrent DVT/PE. So the high-yield fact is resistance to activated protein C and increased thrombosis risk. The correct answer should reflect that.
**Core Concept**
Factor V Leiden mutation is the most common inherited thrombophilia in Caucasians, characterized by **resistance to activated protein C (APC)**. Normally, APC inactivates Factor Va, limiting clot formation. The mutation (G1691A in the F5 gene) produces a Factor V variant resistant to APC-mediated degradation, leading to **hypercoagulability** and increased risk of venous thromboembolism (VTE).
**Why the Correct Answer is Right**
The correct answer states that Factor V Leiden causes **resistance to activated protein C**. This mutation results in a single amino acid substitution (arginine to glutamine at position 506), preventing APC from cleaving Factor Va. Consequently, Factor Va remains active, amplifying thrombin generation and clot formation. This defect directly contributes to **deep vein thrombosis (DVT)** and **pulmonary emb