Hemophilia Overview Quiz
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Questions and Answers

What is the primary deficiency associated with Hemophilia A?

  • Insufficient production of von Willebrand factor
  • Lack of coagulant activity of factor VII
  • Alteration of factor IX coagulant activity
  • Deficiency of factor VIII coagulant activity (correct)

    • Which inheritance pattern characterizes Hemophilia A?

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

    • Which of the following clinical features is not associated with Hemophilia A?

  • Prolonged bleeding after dental extraction
  • Excessive bruising in infants
  • Hematuria
  • Deep vein thrombosis (correct)

    • Which laboratory test is commonly used to diagnose Hemophilia A?

    <p>Partial thromboplastin time (PTT) (D)</p> Signup and view all the answers

    What is a rare complication of Hemophilia characterized by cystic swelling?

    <p>Pseudo tumor (A)</p> Signup and view all the answers

    In Hemophilia B, which factor is affected?

    <p>Factor IX (A)</p> Signup and view all the answers

    Which feature is common between Hemophilia A and Hemophilia B?

    <p>Spontaneous bleeding into joints (D)</p> Signup and view all the answers

    What generally happens to individuals with low levels of factor VIII?

    <p>They develop life-threatening bleeding after minor trauma (D)</p> Signup and view all the answers

    What laboratory test should be conducted after finding a prolonged PTT to confirm a factor deficiency?

    <p>Mixing study (D)</p> Signup and view all the answers

    What is the normal activity level of factor VIII typically associated with a hemophilia diagnosis?

    <p>Less than 40% of normal activity (B)</p> Signup and view all the answers

    Which treatment is specifically mentioned as a synthetic analogue to stimulate the release of FVIII?

    <p>Desmopressin (B)</p> Signup and view all the answers

    In the context of carrier detection for hemophilia, what method can be used to detect mutations?

    <p>DNA probes (A)</p> Signup and view all the answers

    What is a distinguishing feature of hemophilia B compared to hemophilia A?

    <p>Specific coagulation assays for diagnosis (D)</p> Signup and view all the answers

    Which of the following best describes non-genetic hemophilia A?

    <p>Caused by autoantibodies against factor VIII (D)</p> Signup and view all the answers

    At what gestational age can antenatal diagnosis of FVIII in fetal blood be performed?

    <p>16-20 weeks (D)</p> Signup and view all the answers

    What is the primary purpose of prophylactic treatments in hemophilia patients?

    <p>To manage potential complications and reduce bleeds (B)</p> Signup and view all the answers

    What is the consequence of ristocetin on von Willebrand factor (VWF)?

    <p>It promotes the binding of VWF to platelets. (B)</p> Signup and view all the answers

    In which type of von Willebrand's disease is desmopressin commonly used as a treatment?

    <p>Type 1 (A)</p> Signup and view all the answers

    Which bleeding symptoms are primarily associated with Hemophilia A?

    <p>Joint and internal organ bleeding (C)</p> Signup and view all the answers

    What common laboratory finding is associated with vitamin K deficiency in newborns?

    <p>Prolonged PT and aPTT (B)</p> Signup and view all the answers

    Which treatment is characterized by a longer half-life than FVIII, allowing for less frequent infusion?

    <p>Factor IX infusion (D)</p> Signup and view all the answers

    What laboratory finding is expected to be normal in hemophilia B?

    <p>Bleeding time (C), PT (D)</p> Signup and view all the answers

    Which factor is NOT directly affected by warfarin treatment?

    <p>Factor VIII (A)</p> Signup and view all the answers

    Which statement about hemophilia is accurate?

    <p>It results primarily from mutations in the F8 or F9 gene. (D)</p> Signup and view all the answers

    How do acquired coagulation disorders compare to inherited ones?

    <p>They are more common and can involve multiple factors. (C)</p> Signup and view all the answers

    Which of the following complications arises from vitamin K deficiency in adults?

    <p>Obstructive jaundice (A)</p> Signup and view all the answers

    Which of the following is a characteristic of Type 2B von Willebrand’s Disease?

    <p>Abnormal affinity for platelets (B)</p> Signup and view all the answers

    What is the main role of von Willebrand factor in hemostasis?

    <p>It promotes platelet adhesion and aggregation. (D)</p> Signup and view all the answers

    What is a common presentation of hemorrhagic disease of the newborn?

    <p>Mucosal bleeding (B)</p> Signup and view all the answers

    In von Willebrand's Disease, which type represents the most severe form?

    <p>Type 3 (C)</p> Signup and view all the answers

    Which of the following findings is characteristic of von Willebrand’s Disease in laboratory tests?

    <p>Prolonged bleeding time (B)</p> Signup and view all the answers

    Which of the following is primarily responsible for the reduced levels of FVIII in von Willebrand’s Disease?

    <p>Dysfunctional vWF (B)</p> Signup and view all the answers

    What primary effect does biliary obstruction have on vitamin K?

    <p>Impaired absorption of vitamin K (C)</p> Signup and view all the answers

    Which factor's synthesis is NOT typically decreased in liver disease?

    <p>Factor V (C)</p> Signup and view all the answers

    Which condition is NOT a known cause of disseminated intravascular coagulation (DIC)?

    <p>Chronic kidney disease (A)</p> Signup and view all the answers

    Which symptom would you expect to find in a patient with DIC?

    <p>Prolonged PT and APTT (A)</p> Signup and view all the answers

    What is the primary role of thrombopoietin in liver disease?

    <p>Regulate platelet production (C)</p> Signup and view all the answers

    Which laboratory finding is typically increased in DIC?

    <p>D-dimer levels (A)</p> Signup and view all the answers

    Which of the following is a common treatment option for DIC?

    <p>Fresh frozen plasma (A)</p> Signup and view all the answers

    What is the consequence of impaired synthesis of coagulation inhibitors in liver disease?

    <p>Promotion of disseminated intravascular coagulation (C)</p> Signup and view all the answers

    Flashcards

    Hemophilia A

    A bleeding disorder caused by deficiency of Factor VIII, leading to excessive bleeding.

    Hemophilia B

    A bleeding disorder caused by deficiency of Factor IX, similar symptoms to Hemophilia A.

    von Willebrand’s disease

    An inherited bleeding disorder caused by a deficiency in von Willebrand factor (vWf).

    Inheritance pattern of Hemophilia A

    Hemophilia A is transmitted as a recessive X-linked inheritance, primarily affecting males.

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    Symptoms of Hemophilia

    Common symptoms include easy bruising, spontaneous bleeding into joints and muscles.

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    Severity of Hemophilia A

    Severity relates directly to the level of Factor VIII in blood; lower levels lead to more severe symptoms.

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    Laboratory tests for Hemophilia

    Common tests include complete blood count, prothrombin time, PTT, and bleeding time to assess coagulation.

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    Clinical features of hemarthrosis

    Hemarthrosis refers to joint bleeding, leading to pain, deformity, and potential disability.

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    Hemophilia B treatments

    Infusion of FIX, which has a longer half-life than FVIII, allowing less frequent infusions.

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    Laboratory findings in Hemophilia B

    Prolonged activated partial thromboplastin time (aPTT) and reduced FIX clotting factor levels; normal PT and bleeding time.

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    Von Willebrand's Disease (vWD)

    A bleeding disorder due to reduced levels or dysfunction of von Willebrand factor (vWF).

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    Function of vWF

    vWF promotes platelet adhesion and carries Factor VIII (FVIII), protecting it from degradation.

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    Types of Von Willebrand's Disease

    vWD categorized into three types: Type 1 (reduced vWF), Type 2 (abnormal vWF), Type 3 (severe lack of vWF).

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    Laboratory findings in vWD

    Prolonged bleeding time, low FVIII, prolonged aPTT, low vWF, and normal platelet count except in type 2B.

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    VWF:Ag and VWF:RCo

    VWF:Ag is an immunoassay measuring vWF concentration; VWF:RCo assesses vWF's interaction with platelets.

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    Prophylaxis in liver disease

    Use of oral vitamin K to prevent bleeding disorders in liver disease patients.

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    Thrombocytopenia

    A condition characterized by decreased platelet count, often due to liver dysfunction.

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    DIC (Disseminated Intravascular Coagulation)

    A serious condition involving widespread formation of small clots that can lead to severe bleeding.

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    Pathogenesis of DIC

    Triggered by procoagulant material entering circulation, causing widespread coagulation and bleeding.

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    Laboratory findings in DIC

    Common tests show low platelets, prolonged clotting times, and elevated D-dimers.

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    Vitamin K absorption issues

    Biliary obstruction can impair vitamin K absorption, leading to bleeding risks.

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    Factors synthesized by liver

    Liver cells produce coagulation factors II, VII, IX, and X, critical for clotting.

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    Fibrinogen dysfunction

    Functional abnormalities in fibrinogen, known as dysfibrinogenaemia, can lead to bleeding issues.

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    Ristocetin

    An antibiotic that induces VWF to bind platelets, causing aggregation.

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    Von Willebrand's Disease

    A bleeding disorder characterized by insufficient VWF, affecting platelet function.

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    Desmopressin

    A treatment for Type 1 VWD that increases VWF levels in circulation.

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    Hemophilia A vs VWD

    HA mostly affects males; VWD affects both genders equally.

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    Bleeding Symptoms in HA

    Common for deep tissue bleeding; includes joints and organs.

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    Vitamin K Deficiency

    Caused by diet, malabsorption, or drugs; leads to decreased clotting factors.

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    Hemorrhagic Disease of Newborn

    Resulting from vitamin K deficiency in newborns, leading to bleeding issues.

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    Laboratory Findings in Vitamin K Deficiency

    Characterized by prolonged PT and aPTT, with normal platelet count.

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    Prolonged PTT

    A laboratory finding indicating intrinsic pathway disruption, seen in hemophilia A and B.

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    Mixing study

    A test to determine if prolonged PTT is due to factor deficiency; PTT normalizes if a deficiency is suspected.

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    Factor VIII activity

    Measured to diagnose hemophilia; below 40% of normal indicates hemophilia A.

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    Antenatal diagnosis

    Testing for factor VIII levels in fetal blood to confirm hemophilia during pregnancy.

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    Acquired hemophilia A

    Non-genetic hemophilia caused by autoantibodies against factor VIII; can be associated with various conditions.

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    Umbilical cord blood

    Blood from the umbilical cord used to assess factor levels at birth, crucial for diagnosing hemophilia B.

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    Study Notes

    Coagulation Disorders

    • Coagulation disorders encompass various conditions affecting blood clotting
    • Inherited coagulation disorders are notable, including hemophilia.

    Inherited Coagulation Disorders: Overview

    • Hemophilia is a group of inherited bleeding disorders classified into types A and B.
    • Hemophilia A is caused by a deficiency in factor VIII, while hemophilia B involves a deficiency in factor IX.
    • Both hemophilia types A and B share similar bleeding manifestations.
    • Hemophilia A and B are clinically indistinguishable, and diagnosis relies on factor assays.
    • Some infants with hemophilia remain asymptomatic until experiencing minor trauma later.
    • Characterized by easy bruising in early childhood and spontaneous bleeding into deep tissues like joints, muscles, and soft tissues.
    • Severe bleeding can occur after trauma or surgery.
    • Hemophilia A is an X-linked recessive inheritance disease, males are affected and females are carriers.
    • Bleeding severity correlates with factor VIII levels; low levels (< 1 IU/dL) lead to frequent bleeding.
    • Hemophilia A is transmitted as an X-linked recessive inheritance.
    • The defect is an absence or low level of plasma factor VIII.

    Clinical Features of Hemophilia A

    • Bleeding is due to the deficiency of factor VIII coagulant activity
    • Bleeding severity is directly related to factor VIII levels in the blood.
    • Frequent spontaneous bleeding into joints or muscles is common.
    • Males are affected, and females are carriers
    • The defect in hemophilia A is often a mutation in the gene for factor VIII production
    • Clinical features include:
      • Infants may develop joint and soft tissue bleeding and excessive bruising during active periods.
      • Prolonged bleeding after dental extractions.
      • Recurrent painful joint bleeding (hemarthrosis).
      • Poorly treated hematomas; untreated hematomas can lead to joint deformity and disability, especially in patients who experience trauma during walking.
      • Hemophilic pseudo tumors are rare but significant complications of hemophilia, consisting of progressive cystic swellings within muscles and/or bones due to repeated bleeding.
      • Hematuria (blood in urine).
      • Gastrointestinal bleeding

    Severity of Hemophilia A

    Severity Factor VIII level (IU/dL) Type of presentation
    Severe 0-1 Spontaneous bleeding, severe bleeding
    Moderate 2-5 Few bleeds, hemarthroses, mainly traumatic
    Mild 5-30 Post-traumatic, post-surgical, post-dental extraction, few episodes,

    Coagulation Pathways

    • Coagulation pathways are complex, but the intrinsic and extrinsic pathways converge at a common point.

    Laboratory Investigations (Hemostasis Tests) for Hemophilia A

    • The initial blood work involves a complete blood count, prothrombin time (PT), partial thromboplastin time (PTT), and bleeding time (BT).
    • In hemophilia A, PTT (partial thromboplastin time) is often prolonged, while PT and BT are usually normal.
    • If PTT is prolonged, a mixing study is necessary to determine if the prolonged PTT is related to a factor deficiency.
    • If the mixing study normalizes PTT, it suggests a factor deficiency.

    Carrier Detection and Antenatal Diagnosis

    • Measuring factor VIII plasma levels allows for identification of carriers.
    • DNA probes detect mutations in carriers, aiding in genetic diagnosis.
    • Antenatal diagnosis can detect factor VIII in fetal blood at 16-20 weeks of gestation using procedures like ultrasound-guided needle aspiration.

    Treatments for Hemophilia A

    • Factor VIII replacement therapy, with either recombinant factor or frozen plasma concentrate.
    • Desmopressin, a synthetic vasoconstrictor, may elevate factor VIII and vWF levels to help boost plasma levels.
    • Prophylactic treatments involve storing factor VIII at home to reduce episodes of severe bleeding, reduce hospitalizations, and improve quality of life.

    Non-Genetic Forms of Hemophilia A

    • Acquired hemophilia A results from autoantibodies against factor VIII.
    • The condition may link to cancers, autoimmune disorders, or childbirth.

    Hemophilia B

    • Hemophilia B, also known as Christmas disease, involves a factor IX deficiency.
    • Inheritance and clinical features are identical to hemophilia A.
    • Distinguishing hemophilia B from A relies on specific coagulation assays.
    • The incidence rate is about 1/5 of hemophilia A.
    • Factor IX levels are low at birth, but they typically improve with time and achieve normal levels around six months of age.
    • Umbilical cord blood samples are not always useful for diagnosing hemophilia B.

    Treatments for Hemophilia B

    • Factor IX infusions, replacing the missing factor, offer treatment.
    • The fact that factor IX has a longer half-life than factor VIII means that factor IX infusions are often administered less frequently.

    Von Willebrand Disease

    • Von Willebrand disease (vWD) is an inherited bleeding disorder
    • vWD is caused by either reduced vWF levels or abnormal vWF function resulting from point mutations or major deletions.
    • Von Willebrand Factor (vWF) is a large protein (300 kDa) that forms multimers
    • vWD inheritance is autosomal dominant.
    • Typical bleeding symptoms include:
      • Mucous membrane bleeding (nosebleeds, gum bleeding)
      • Bleeding after dental extractions
      • Post-traumatic hemorrhage.
    • vWF's dual function includes:
      • Promoting platelet adhesion to injured endothelium and subsequent platelet aggregation.
      • Acting as a carrier molecule for factor VIII, protecting it from premature destruction; lower factor VIII levels impact vWD.
    • Types 1, 2, and 3 of vWD exist; type 3 is a severe form marked by reduced or absent vWF. Type 2 has various subtypes: 2A, 2B, 2M, and 2N. Type 2 vWD involves abnormal vWF structures resulting in various functional defects.

    Types and Subtypes of vWD

    • Type 1: reduced vWF levels (milder form of vWD)
    • Type 2: abnormal vWF protein function (several subtypes exist)
    • Type 3: very low or absent vWF levels (severe form of vWD)
      • Type 2A: Defective High-molecular weight (HMW) multimer formation of vWF
      • Type 2B: Abnormal binding affinity for platelets, potentially leading to platelet removal by the body and resulting in low platelet counts.
    • vWD is usually clinically recognizable by mucosal bleeding and bleeding after procedures.

    Laboratory Findings in vWD

    • Prolonged bleeding time
    • Low factor VIII levels
    • Prolonged aPTT
    • Low vWF levels
    • Defective platelet aggregation
    • The platelet count is usually normal (not in Type 2B).

    Specialized Laboratory Investigations for vWD

    • vWF:Ag (immunoassay): quantifies vWF protein concentration
    • vWF:RCo (ristocetin cofactor assay): assesses vWF function in platelet aggregation.
    • Factor VIII coagulant assays to assess FVIII levels.

    Treatments for vWD

    • Antifibrinolytic agents for type 2B
    • Desmopressin in type 1 vWD or vWD patients with normal vWF
    • In cases of severe vWD, infusions of factor VIII and/or vWF are needed.

    Hemophilia A vs. vWD

    Feature Hemophilia A vWD
    Gender Primarily males Both males and females
    Bleeding Symptoms Primarily deep tissue bleeding (musculoskeletal, internal organs) Primarily mucocutaneous bleeding (nosebleeds, gum bleeding, easy bruising in milder forms)

    Acquired Coagulation Disorders

    • Acquired coagulation disorders are more common than inherited ones.
    • They often involve multiple clotting factor deficiencies.

    Vitamin K Deficiency

    • Vitamin K deficiency arises from inadequate diet, malabsorption, or inhibition by drugs like warfarin.
    • Warfarin reduces the activity of clotting factors II, VII, IX, and X.
    • Vitamin K deficiency in newborns is called hemorrhagic disease of the newborn.
    • Deficiencies lower the function of clotting factors; laboratory tests like prolonged prothrombin times (PT) and activated partial thromboplastin times (aPTT) detect the deficiency.

    Hemorrhagic Disease of the Newborn

    • Resulting from insufficient vitamin K in newborns, this condition involves liver immaturity, poor gut absorption, and lower breast milk vitamin K levels.
    • This condition leads to bleeding problems.
    • Laboratory findings include prolonged PT and aPTT, while platelet counts and fibrinogen levels are typically normal.
    • Treatment involves administering vitamin K to prevent or treat bleeding.

    Vitamin K Deficiency in Liver Disease

    • Obstructive jaundice; pancreatic or small bowel disease interferes with vitamin K absorption.
    • Liver disease, reduced vitamin K absorption, and synthesis of factors II, VII, IX, and X.
    • Laboratory findings show prolonged PT and aPTT; platelet and fibrinogen counts are typically normal.
    • Treatment involves administering vitamin K orally.

    Hemostasis Disorders in Liver Disease

    • Liver disease can directly impact hemostasis, affecting vitamin K absorption and the synthesis of multiple clotting factors.
    • This can lead to:
      • Fibrinogen abnormalities (acquired dysfibrinogenemia)
      • Thrombocytopenia caused by reduced thrombopoietin production
      • Disseminated intravascular coagulation (DIC) due to the release of thromboplastin from injured liver cells.
    • Reduced synthesis of coagulation inhibitors: this can contribute to the formation of DIC.
    • Laboratory findings highlight impaired vitamin K and factors' absorption and synthesis, leading to abnormal clotting parameters.
    • DIC may require treatments due to the consumption of coagulation factors.

    Disseminated Intravascular Coagulation (DIC)

    • DIC involves widespread fibrin deposition and consumption of coagulation factors/platelets.
    • This is a result of many disorders causing excessive procoagulant activation.
    • Pathogenesis of DIC may include:
      • Amniotic fluid embolism
      • Liver disease
      • Premature placental separation
      • Cancer cells
      • Snakebites
      • Damaged endothelium
      • Infections (immune response, vasculitis)
      • Burns

    Laboratory Findings in DIC

    • DIC results in decreased platelets.
    • Prolonged aPTT, PT, and thrombin time
    • Elevated fibrin degradation products (FDPs) and D-dimers as fibrin is degraded.
    • Hemolytic anemia occurs if RBCs are fragmented; smaller clots in small vessels disrupt circulation.

    Treatments for DIC

    • Fresh frozen plasma or plasma concentrate
    • Red blood cell (RBC) transfusions
    • Antithrombin and protein C administration to limit DIC

    Coagulation Deficiencies Caused by Antibodies

    • Alloantibodies against factor VIII in about 5–10% of hemophilia cases can cause a bleeding syndrome.
    • Systemic lupus erythematosus (SLE) and other autoimmune diseases may cause lupus anticoagulant antibodies that interfere with coagulation.
    • Immunosuppression or factor replacement can treat antibody-related coagulation deficiencies..

    Massive Transfusion Syndrome

    • Massive blood transfusions can dilute clotting factors and platelets, creating coagulation and inhibitor issues, especially if refrigerated storage times are long/beyond 24 hours because platelets function is impaired.
    • Pre-existing bleeding disorders can increase vulnerability.

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    Test your knowledge on Hemophilia A and B with this quiz. Explore various aspects, including clinical features, inheritance patterns, and laboratory tests related to these bleeding disorders. Understand the key differences and treatment options available for patients.

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