Haemophilia: Blood Coagulation Pathways
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Questions and Answers

What is the most common type of hemophilia?

  • Hemophilia A (correct)
  • Hemophilia B
  • Hemophilia C
  • Von Willebrand disease

    • What is the mode of inheritance of hemophilia A and B?

  • X-linked recessive (correct)
  • Autosomal recessive
  • Mitochondrial inheritance
  • Autosomal dominant

    • What percentage of hemophilia cases are caused by new mutations?

  • 1/2
  • 3/4
  • 2/3
  • 1/3 (correct)

    • Which of the following is NOT a clinical presentation of hemophilia?

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

    What is the deficiency in hemophilia C?

    <p>Factor 11</p> Signup and view all the answers

    What is the pathway that involves tissue factor (TF) and factor VIIa?

    <p>Extrinsic pathway</p> Signup and view all the answers

    What is the order of increasing concentration of clotting factors in the following treatment preparations?

    <p>Whole blood, plasma, cryoprecipitate, factor concentrates</p> Signup and view all the answers

    Which of the following is a complication of hemophilia?

    <p>All of the above</p> Signup and view all the answers

    What is the treatment for Factor XI deficiency?

    <p>Fibrinolytic inhibitor, Tranexamic acid, and factor XI concentrate</p> Signup and view all the answers

    Which of the following is a characteristic of Von Willebrand disease?

    <p>Autosomal dominant inheritance</p> Signup and view all the answers

    What is the role of VWF in the coagulation process?

    <p>Carrier for factor 8, platelets adhesion to vascular collagen</p> Signup and view all the answers

    Which population is more prone to Factor XI deficiency?

    <p>Ashkenazi Jews</p> Signup and view all the answers

    What is the primary goal of hemophilia therapy?

    <p>To treat and prevent bleeding episodes and related complications</p> Signup and view all the answers

    What is the benefit of regular prophylaxis in hemophilia therapy?

    <p>Reduced physical impairment from hemophilic arthropathy</p> Signup and view all the answers

    What is the target trough factor level in blood for standard prophylaxis regimens?

    <p>1-2%</p> Signup and view all the answers

    What is the purpose of immobilization of a limb in hemophilia treatment?

    <p>To relieve pain and stabilize the clot</p> Signup and view all the answers

    What laboratory investigation is normal in hemophilia?

    <p>Platelet number and function</p> Signup and view all the answers

    What is the purpose of factor assay in hemophilia diagnosis?

    <p>To measure the concentration of factors 8, 9, 11, and VWF</p> Signup and view all the answers

    What should be avoided in hemophilia treatment to prevent bleeding?

    <p>Surgical intervention or invasive diagnostic procedures</p> Signup and view all the answers

    What is the intrinsic pathway involved in?

    <p>Coagulation cascade</p> Signup and view all the answers

    What is the most common presentation of bleeding in females with Von Willebrand disease?

    <p>Menorrhagia and mucocutaneous bleeding</p> Signup and view all the answers

    What is the expected result of a Platelet function test in Von Willebrand disease?

    <p>Abnormal adhesion</p> Signup and view all the answers

    What is the purpose of Tranexamic acid in the treatment of Von Willebrand disease?

    <p>To inhibit fibrinolysis</p> Signup and view all the answers

    What is the underlying mechanism of Disseminated Intravascular Coagulation?

    <p>All of the above</p> Signup and view all the answers

    What is the characteristic finding on blood film examination in patients with Disseminated Intravascular Coagulation?

    <p>Red cell fragmentation</p> Signup and view all the answers

    What is the expected result of the Thrombin time test in patients with Disseminated Intravascular Coagulation?

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

    What is the primary indication for the use of Cryoprecipitate in patients with Disseminated Intravascular Coagulation?

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

    What is the percentage of patients with Disseminated Intravascular Coagulation who manifest thrombotic lesions?

    <p>5-10%</p> Signup and view all the answers

    What is the purpose of administering heparin or antiplatelet drugs to patients with thrombotic problems?

    <p>To inhibit the coagulation process</p> Signup and view all the answers

    Which of the following is an inherited thrombophilia?

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

    What is the significance of a prolonged APTT in the investigation of thrombophilia?

    <p>It suggests the presence of an anticoagulant</p> Signup and view all the answers

    What is the mechanism of action of warfarin in the treatment of thrombophilia?

    <p>It inhibits the production of vitamin K</p> Signup and view all the answers

    What is a common side effect of heparin therapy?

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

    What is the significance of recurrent venous thrombosis in a young patient?

    <p>It is indicative of inherited thrombophilia</p> Signup and view all the answers

    Study Notes

    Haemophilia

    • Inherited coagulation factor defect, affecting 1 in 5,000 to 1 in 10,000 males
    • Three types: Haemophilia A (factor 8), Haemophilia B (factor 9), Haemophilia C (factor 11)
    • Von Willebrand disease (VWF) is also an inherited bleeding disorder

    Inheritance of Haemophilia

    • X-linked recessive disease, affecting males
    • 1/3 of cases develop post-new mutations, with no family history
    • Haemophilia A is the most common, with Haemophilia B accounting for 20% of cases

    Clinical Presentation

    • Petechiae, purpura, hematoma, joint bleeding, mucocutaneous bleeding, intracranial hemorrhage, post-tooth extraction bleeding, post-operative bleeding, trauma
    • Advanced joint and muscle bleeding

    Laboratory Investigation

    • Normal platelet count and function
    • Normal PT, PC, INR
    • Prolonged APTT
    • Factor assay (8, 9, 11, VWF)

    Treatment

    • "On-demand" or prophylaxis
    • Aimed at treating and preventing bleeding episodes and related complications
    • Regular prophylaxis started at an early age can reduce physical impairment from hemophilic arthropathy

    Complications of Haemophilia

    • Arthropathy, deformity
    • Muscle atrophy, nerve compression, limb ischemia
    • Fatal ICH bleeding
    • Pseudotumor (subperiosteal bleeding, new bone formation)
    • Infection (HCV, HBV, HIV) due to plasma product

    Factor XI Deficiency

    • Ashkenazi Jews, affects both sexes
    • Bleeding risk shows incomplete correlation to severity of deficiency
    • Treatment: fibrinolytic inhibitor (tranexamic acid), factor XI concentrate, or fresh frozen plasma

    Von Willebrand Disease

    • VWF carries factor 8, platelets adhere to vascular collagen
    • Most common inherited bleeding disorder
    • Autosomal dominant inheritance
    • Affects females, presenting with mucocutaneous bleeding
    • Menorrhagia, epistaxis, rare hemarthrosis, and muscle bleeding

    Laboratory Diagnosis

    • Normal CBC, normal PT, normal TT
    • Prolonged APTT
    • VWF antigen, activity
    • Factor 8 level (type III VWD)
    • Platelet function test abnormal adhesion

    Treatment

    • Supportive: avoid antiplatelets (aspirin), anticoagulants (warfarin), fibrinolytic inhibitor (tranexamic acid)
    • Cryoprecipitate, plasma, vasopressin (type 1 VWD)
    • VWF/factor 8 concentrate

    Acquired Coagulation Factors

    • Disseminated intravascular coagulation
    • Widespread inappropriate intravascular deposition of fibrin with consumption of coagulation factors and platelets
    • Associated with many disorders, e.g., leukemia, trauma, obstetric complications

    Clinical Presentation

    • Bleeding, thrombotic lesions, organ dysfunction
    • 5-10% of patients manifest thrombotic lesions

    Laboratory Investigation

    • Low platelet count
    • Low fibrinogen concentration
    • Prolonged thrombin time
    • High levels of fibrin degradation products (D-dimers) in serum and urine
    • Prolonged PT and APTT

    Treatment

    • Bleeding: supportive therapy with fresh frozen plasma and platelet concentrates
    • Thrombosis: heparin or antiplatelet drugs to inhibit coagulation process

    Thrombophilia

    • Inherited: anti-thrombin III, protein C deficiency, protein S deficiency, factor V Leiden
    • Acquired: dyslipidemia, malignancy, nephrotic syndrome, Behcet's syndrome, antiphospholipid antibody syndrome, pregnancy, COC, PNH, myeloproliferative disorder, leukemia

    Clinical Picture and Investigation

    • Recurrent venous thrombosis, abnormal site, young age
    • Arterial thrombosis, absence of arterial atherosclerosis
    • Recurrent abortion
    • Thrombophlebitis
    • Investigation: prolonged APTT, anticardiolipin antibody, lupus anticoagulant, level of protein S, C, anti-thrombin III, factor V Leiden

    Treatment

    • Anticoagulant: oral warfarin (vitamin K antagonist), parenteral heparin (subcutaneous, intravenous, unfractionated, low molecular weight)
    • Side effects: heparin-induced thrombocytopenia, osteoporosis

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    Description

    This quiz covers the pathophysiology of haemophilia, including the intrinsic and extrinsic pathways of blood coagulation. Test your knowledge of the clotting factors and their interactions.

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