Medical Genetics: Hypercoagulable States Quiz

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?

Prolonged bed rest Signup and view all the answers

Which hypercoagulable condition is characterized by a rare genetic deficiency?

Protein C deficiency Signup and view all the answers

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

Strong risk acquired condition Signup and view all the answers

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

Prothrombin gene mutation Signup and view all the answers

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

Pregnancy Signup and view all the answers

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

10-15% Signup and view all the answers

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

Deep vein thrombosis (DVT) Signup and view all the answers

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

Respiratory compromise Signup and view all the answers

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

Sudden death Signup and view all the answers

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

Bronchial and pulmonary arterial dual supply Signup and view all the answers

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

Reduced respiratory rate Signup and view all the answers

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

2-3% Signup and view all the answers

What distinguishes systemic thromboembolism from pulmonary embolism?

Location within the body Signup and view all the answers

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

Embolization to the lungs Signup and view all the answers

What role does atherosclerosis play in arterial thrombosis?

It stimulates endothelial injury and abnormal vascular flow. Signup and view all the answers

Which statement correctly describes deep vein thrombosis (DVT)?

DVT may be asymptomatic due to collateral circulation. Signup and view all the answers

What type of material primarily composes the majority of emboli?

Thrombus fragments Signup and view all the answers

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

High lipid levels Signup and view all the answers

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

Myocardial infarction Signup and view all the answers

Which of the following correctly defines embolism?

Intravascular material occluding a distant vessel after transportation. Signup and view all the answers

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

1 million Signup and view all the answers

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

Lungs and liver Signup and view all the answers

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

Nature of vascular supply Signup and view all the answers

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

Neurons Signup and view all the answers

How long can cardiac myocytes withstand ischemia before dying?

20-30 minutes Signup and view all the answers

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

Higher susceptibility to partial flow obstructions Signup and view all the answers

Which of the following statements about collateral circulation is accurate?

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

What happens to fibroblasts in myocardium during ischemic conditions?

They remain viable for a few hours. Signup and view all the answers

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

Presence of collateral blood vessels Signup and view all the answers

What is the primary characteristic of an infarct?

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

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

White (pale) infarcts Signup and view all the answers

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

Vasospasm Signup and view all the answers

Which setting typically leads to the occurrence of red infarcts?

Tissues with dual circulation affected by venous occlusion Signup and view all the answers

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

More than half Signup and view all the answers

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

Fever Signup and view all the answers

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

Minimal collateral supply Signup and view all the answers

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

1 in 8,000 to 1 in 80,000 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.