Medical Genetics: Hypercoagulable States Quiz
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Questions and Answers

Which genetic mutation is most commonly associated with hypercoagulable states?

  • Factor V Leiden mutation (correct)
  • MTHFR gene mutation
  • Prothrombin gene mutation
  • Protein S deficiency
  • Which of the following is considered a secondary cause of hypercoagulability?

  • Protein C deficiency
  • Antithrombin deficiency
  • Atrial fibrillation (correct)
  • Factor V Leiden mutation
  • What is the effect of the Factor V Leiden mutation?

  • Increased levels of protein S
  • Decreased fibrinolysis
  • Inhibition of prothrombin
  • Resistance to activated protein C (correct)
  • Which of the following risk factors is categorized as having a strong risk for thrombosis?

    <p>Prolonged bed rest</p> Signup and view all the answers

    Which hypercoagulable condition is characterized by a rare genetic deficiency?

    <p>Protein C deficiency</p> Signup and view all the answers

    A patient diagnosed with disseminated intravascular coagulation (DIC) is experiencing which type of hypercoagulable state?

    <p>Strong risk acquired condition</p> Signup and view all the answers

    Which of the following is NOT classified as a very rare inherited hypercoagulable condition?

    <p>Prothrombin gene mutation</p> Signup and view all the answers

    Which of the following conditions is associated with a lower risk of thrombosis due to hypercoagulable states?

    <p>Pregnancy</p> Signup and view all the answers

    What percentage of hospitalized patients is pulmonary embolism (PE) attributed to as a cause of death?

    <p>10-15%</p> Signup and view all the answers

    From where do the majority of emboli that lead to pulmonary embolism originate?

    <p>Deep vein thrombosis (DVT)</p> Signup and view all the answers

    What is the pathophysiological consequence of ventilating a non-perfused segment of lung due to pulmonary embolism?

    <p>Respiratory compromise</p> Signup and view all the answers

    What outcome is most likely when over 60% of the pulmonary circulation is obstructed by emboli?

    <p>Sudden death</p> Signup and view all the answers

    Why does embolic obstruction of medium-sized pulmonary arteries usually not lead to infarction?

    <p>Bronchial and pulmonary arterial dual supply</p> Signup and view all the answers

    Which of the following clinical symptoms is NOT typically associated with pulmonary embolism?

    <p>Reduced respiratory rate</p> Signup and view all the answers

    What percentage of patients may develop pulmonary hypertension as a complication of repeated small thromboemboli?

    <p>2-3%</p> Signup and view all the answers

    What distinguishes systemic thromboembolism from pulmonary embolism?

    <p>Location within the body</p> Signup and view all the answers

    What is the primary consequence of venous thrombosis that poses a life-threatening risk?

    <p>Embolization to the lungs</p> Signup and view all the answers

    What role does atherosclerosis play in arterial thrombosis?

    <p>It stimulates endothelial injury and abnormal vascular flow.</p> Signup and view all the answers

    Which statement correctly describes deep vein thrombosis (DVT)?

    <p>DVT may be asymptomatic due to collateral circulation.</p> Signup and view all the answers

    What type of material primarily composes the majority of emboli?

    <p>Thrombus fragments</p> Signup and view all the answers

    Which factor is NOT typically considered a risk factor for developing deep vein thrombosis (DVT)?

    <p>High lipid levels</p> Signup and view all the answers

    What is considered the most common cause of death in Western industrialized countries related to arterial thrombosis?

    <p>Myocardial infarction</p> Signup and view all the answers

    Which of the following correctly defines embolism?

    <p>Intravascular material occluding a distant vessel after transportation.</p> Signup and view all the answers

    Approximately how many people in the U.S. are impacted by pulmonary embolism (PE) each year?

    <p>1 million</p> Signup and view all the answers

    Which organs have dual circulation and are less affected by small occlusions?

    <p>Lungs and liver</p> Signup and view all the answers

    What is the primary factor influencing whether a vessel occlusion leads to infarction?

    <p>Nature of vascular supply</p> Signup and view all the answers

    Which type of tissue is most vulnerable to hypoxia and can undergo irreversible change quickly?

    <p>Neurons</p> Signup and view all the answers

    How long can cardiac myocytes withstand ischemia before dying?

    <p>20-30 minutes</p> Signup and view all the answers

    What is a significant consequence for patients with anemia or pulmonary disease regarding vessel occlusion?

    <p>Higher susceptibility to partial flow obstructions</p> Signup and view all the answers

    Which of the following statements about collateral circulation is accurate?

    <p>It can help prevent infarction during slowly developing occlusions.</p> Signup and view all the answers

    What happens to fibroblasts in myocardium during ischemic conditions?

    <p>They remain viable for a few hours.</p> Signup and view all the answers

    Which of the following factors plays an essential role in determining the outcome of vessel occlusion?

    <p>Presence of collateral blood vessels</p> Signup and view all the answers

    What is the primary characteristic of an infarct?

    <p>An area of ischemic necrosis caused by arterial supply or venous drainage occlusion</p> Signup and view all the answers

    Which type of infarct is most likely to occur in organs with end-arterial circulation?

    <p>White (pale) infarcts</p> Signup and view all the answers

    What is one of the potential causes of infarction besides thrombotic events?

    <p>Vasospasm</p> Signup and view all the answers

    Which setting typically leads to the occurrence of red infarcts?

    <p>Tissues with dual circulation affected by venous occlusion</p> Signup and view all the answers

    What percentage of deaths in the U.S. are attributed to infarction?

    <p>More than half</p> Signup and view all the answers

    Which of the following symptoms is NOT characteristic of the severe condition described?

    <p>Fever</p> Signup and view all the answers

    Which type of blood supply scenario is most likely to lead to the formation of white infarcts?

    <p>Minimal collateral supply</p> Signup and view all the answers

    What is the estimated occurrence rate of the severe condition in pregnancies?

    <p>1 in 8,000 to 1 in 80,000</p> Signup and view all the answers

    Study Notes

    Hypercoagulable States

    • Hypercoagulable states are alterations in coagulation pathways leading to thrombosis.
    • Causes classified as primary (genetic) or secondary (acquired).

    Primary (Genetic) Causes

    • Common:
      • Factor V Leiden mutation: point mutation leads to thrombotic risk.
      • Prothrombin gene mutation: affects blood clotting.
      • MTHFR gene mutation: involved in folate metabolism.
    • Rare:
      • Antithrombin deficiency: increases risk of clots.
      • Protein C and S deficiency: impair natural anticoagulation.
      • Fibrinolysis defects: issues with clot breakdown.

    Secondary (Acquired) Causes

    • Strong Risk:
      • Prolonged bed rest or immobilization: increases venous thromboembolism risk.
      • Myocardial infarction and atrial fibrillation: alter fluid dynamics, increasing thrombosis likelihood.
      • Surgery, trauma, burns: lead to tissue damage promoting coagulability.
      • Cancer: releases pro-coagulant factors.
      • Prosthetic cardiac valves: disrupt normal blood flow.
      • Disseminated intravascular coagulation (DIC): leads to widespread clotting.
    • Lower Risk:
      • Cardiomyopathy, nephrotic syndrome, hyperestrogenic states (e.g., pregnancy), oral contraceptive use, sickle cell anemia, smoking.

    Venous Thrombosis

    • Most commonly occurs in superficial or deep leg veins (SVT or DVT).
    • Superficial Thrombosis Symptoms: swelling and pain, rarely embolize.
    • Deep Vein Thrombosis Symptoms: pain, redness, swelling; potentially asymptomatic due to collateral circulation.
    • DVT Risk Factors: stasis and hypercoagulable states.

    Embolism

    • Embolism is the transportation of material through the vascular system that occludes a distant vessel.
    • Majority are thromboemboli; rarer types include fat globules, gas, and amniotic fluid.

    Pulmonary Embolism (PE)

    • Affects approximately one million people annually in the U.S., with 100,000-200,000 fatalities.
    • 95% of PE cases originate from DVT.
    • Size of the embolus affects location and degree of obstruction in the pulmonary artery.
    • Consequences:
      • Respiratory compromise from non-perfused lung segments.
      • Hemodynamic compromise due to increased resistance.
    • Clinical Symptoms: chest pain, cough, shortness of breath, tachycardia, tachypnea.
    • Outcomes can include sudden death, right heart failure, or pulmonary hypertension.

    Systemic Thromboembolism

    • Characterized by emboli within the arterial circulation leading to respiratory distress and neurological symptoms.
    • Significant maternal mortality risk associated with thromboembolisms in pregnancy.

    Infarction

    • An infarct is ischemic necrosis from occluded arterial supply or venous drainage.
    • Major causal factors include thrombotic/embolic events (99% of cases).

    Types of Infarcts

    • White (pale) Infarcts: occur with artery occlusion in organs with little collateral circulation (e.g., heart, kidney).
    • Red Infarcts: mainly due to venous occlusion or dual blood supply allowing some blood flow.

    Factors Influencing Infarction

    • Availability of alternative blood supply: organs like lungs and liver less sensitive to small occlusions.
    • Rate of occlusion development: slow occlusions allow time for collateral circulation formation.
    • Tissue vulnerability to hypoxia: neurons sensitive to ischemia (change in 3-4 min), cardiac myocytes (20-30 min).
    • Oxygen content of blood: anemia and pulmonary disease increase susceptibility to infarction.

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    Description

    Test your knowledge on genetic mutations commonly associated with hypercoagulable states. This quiz covers important factors, risk categories, and conditions related to thrombosis, including the Factor V Leiden mutation and disseminated intravascular coagulation (DIC). Challenge yourself and see how well you understand these critical medical concepts.

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