Factor V Leiden | Causes, Pathophysiology, Symptoms, Diagnosis, Treatment

The video tutorial discusses Factor 5 Leiden, an autosomal dominant hematologic condition that increases the risk of thrombosis. It covers the genetic basis, prevalence, and pathophysiology of the condition, highlighting the role of the R506Q mutation and incomplete penetrance. Clinical features such as venous thromboembolism and associated risks are explored. The tutorial also outlines diagnostic methods, including genetic testing, and treatment options like anticoagulation therapy. The video concludes with a call to explore further hematology topics.

What is the genetic inheritance pattern of Factor 5 Leiden?

• Mitochondrial

• X-linked recessive

• Autosomal recessive

• Autosomal dominant

What is the significance of incomplete penetrance in Factor 5 Leiden?

• Only homozygous individuals are affected

• All carriers show symptoms

• Not all individuals with the mutation exhibit symptoms

• The condition is only present in males

What is the increased risk of thrombosis for homozygous individuals with Factor 5 Leiden?

• 15-fold

• 10-fold

• 20-fold

• 7-fold

What is the role of protein C in the coagulation cascade?

• Synthesizes thrombin

• Converts fibrinogen to fibrin

• Activates factor 5

• Inhibits activated factor 5

Which of the following is a common clinical feature of Factor 5 Leiden?

• Increased risk of venous thromboembolism

• Decreased platelet count

• Increased bleeding tendency

• Reduced red blood cell production

What is a potential complication of Factor 5 Leiden in young women who smoke?

• Increased risk of anemia

• Decreased risk of coronary artery disease

• Decreased risk of thrombosis

• Increased risk of stroke

Which diagnostic test is used to confirm Factor 5 Leiden?

• Complete blood count

• Bone marrow biopsy

• Genetic testing for FVL mutation

• Liver function test

What is the first step in diagnosing Factor 5 Leiden?

• Conducting a bone marrow examination

• Administering anticoagulants

• Suspecting the condition based on clinical presentation

• Performing a liver biopsy

Which anticoagulant is commonly used to treat Factor 5 Leiden?

• Aspirin

• Heparin

• Warfarin

• Clopidogrel

When might indefinite anticoagulation therapy be considered for Factor 5 Leiden?

• After a single provoked DVT

• Only if the patient is over 50 years old

• In the presence of multiple unprovoked VTEs

• For all patients with Factor 5 Leiden