Questions and Answers
Which of the following is a manifestation of primary haemostatic disorders related to bleeding?
What distinguishes primary haemostatic disorders from secondary coagulation disorders in terms of gender distribution?
Which disorders typically present with immediate bleeding symptoms?
Coagulation disorders typically exhibit which of the following symptoms?
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What condition is characterized by a decreased platelet count?
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Which type of disorders is associated with bleeding defects related to vascular issues?
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What type of defect may lead to issues relating to coagulation?
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What is another name for thrombocytes?
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What is the normal range for platelet count in the blood?
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At what platelet count level is treatment typically initiated for thrombocytopenia?
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Which of the following is a potential cause of thrombocytopenia due to failure of marrow production?
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What is dilutional thrombocytopenia?
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Which type of thrombocytopenia is characterized by a sudden onset in children?
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In chronic ITP, where are platelets primarily destroyed?
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Which drug is known to potentially induce thrombocytopenia?
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How common is spontaneous remission in chronic ITP?
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What percentage of children with acute ITP experience spontaneous remission after a few weeks?
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What characteristic feature is often observed in platelets affected by ITP?
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What is the primary mechanism leading to thrombocytopenia in TTP?
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What characterizes inherited TTP compared to acquired TTP?
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Which is a key diagnostic indicator of TTP?
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How does the coagulation status in TTP differ from that in DIC?
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What is the primary treatment approach for TTP?
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What unique feature characterizes DIC?
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What are potential consequences of DIC-related ischemia?
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Which treatment is indicated in cases of predominating bleeding in DIC?
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Which of the following is not a characteristic of disseminated intravascular coagulation (DIC)?
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Which of the following is classified as an inherited disorder of platelet function?
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What is the most common inherited bleeding disorder?
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Which coagulation test result is often prolonged in von Willebrand disease?
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What role does von Willebrand factor (vWF) play in hemostasis?
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What types of mutations can cause von Willebrand disease?
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In individuals with von Willebrand disease, how do platelets typically function when aggregating to ristocetin?
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Which medication can be used to induce the release of von Willebrand factor from the endothelium?
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What characteristic symptom is associated with von Willebrand disease?
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What is the inheritance pattern of the mutations causing von Willebrand disease?
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When treating von Willebrand disease, which agent is typically not necessary for some individuals?
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What is a notable feature of platelet numbers and morphology in von Willebrand disease?
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What is the primary defect observed in Glanzmann's thrombasthenia?
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What is the inheritance pattern of Haemophilia A?
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What is the risk of major bleeding associated with aspirin therapy?
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How is the severity of Haemophilia A determined?
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Which treatment option is NOT recommended for patients with bleeding due to aspirin therapy?
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What is the most common inherited bleeding disorder?
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How does chronic renal failure affect platelet function?
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What type of disorder is Haemophilia B?
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What characterizes Haemophilia A?
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What is the treatment for FXI deficiency?
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Which condition results in increased bleeding time due to high nitrogen levels in the blood?
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What occurs during cardiopulmonary bypass in terms of platelet function?
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Apofibrinogenemia is characterized by what condition?
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How is dysfibrinogenemia inherited?
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What is the main cause of reduced coagulation in bleeding disorders?
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Which population is FXI deficiency almost entirely confined to?
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What is the primary treatment option for acquired platelet disorders resulting from cardiopulmonary bypass?
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What does DIC stand for?
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What is the prevalence of Haemophilia A in males?
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How does the severity of vWD vary?
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What are the characteristic features of disseminated intravascular coagulation (DIC)?
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How does liver disease impact coagulation factor synthesis?
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What role does vitamin K deficiency play in coagulation factor synthesis?
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Which of the following is a common cause of acquired hemophilia?
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What is a known treatment option for acquired hemophilia?
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Which of the following is a cause of decreased platelet number (thrombocytopenia)?
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Which inherited defect is characterized by issues with platelet adhesion?
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What is a common acquired platelet function defect?
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Study Notes
Primary Haemostatic Disorders
- Manifestations include petechiae, epistaxis, and menorrhagia.
- Disorders like thrombocytopenia and von Willebrand disease (VWD) usually present with immediate bleeding symptoms.
Gender Distribution in Disorders
- Primary haemostatic disorders exhibit equal gender distribution; secondary coagulation disorders disproportionately affect males (>80%).
Bleeding Symptoms
- Immediate bleeding symptoms are typically seen in thrombocytopenia and VWD.
- Delayed bleeding symptoms are characteristic of coagulation disorders like haemophilia.
- Intramuscular hematomas can occur in primary haemostatic disorders (e.g., thrombocytopenia and VWD).
Thrombocytopenia
- Defined as a platelet count of less than 150 x 10^9/L; treatment is usually initiated below 50 x 10^9/L.
- Causes include failure of marrow production (e.g., leukemia), immune destruction (e.g., ITP), and non-immune destruction (e.g., TTP, DIC).
- Splenomegaly can lead to increased platelet pooling and thrombocytopenia.
Disorders of Platelet Function
- Can be inherited or acquired, including defects in adhesion, activation, secretion, and aggregation.
- Common medications that impair platelet function include aspirin, which irreversibly inhibits thromboxane A2 production.
von Willebrand Disease (VWD)
- Most common inherited bleeding disorder; prevalence is 1 in 100 (asymptomatic) and 1 in 10,000 (symptomatic).
- Caused by autosomal dominant or recessive mutations affecting von Willebrand factor (vWF).
- VWD characterized by prolonged aPTT, low levels of vWF and FVIII, normal platelet count and morphology.
- Treatment may include desmopressin (inducing vWF release) and administration of vWF concentrates.
Glanzmann's Thrombasthenia
- Extremely rare disorder resulting from αIIbβ3 deficiency, leading to impaired platelet aggregation.
- Patients experience prolonged bleeding despite normal platelet counts.
Thrombotic Thrombocytopenic Purpura (TTP)
- Associated with vWF multimer accumulation leading to platelet aggregation and thrombosis.
- Diagnosis includes thrombocytopenia, schistocytosis, and elevated LDH.
- Treatment primarily involves plasma exchange.
Disseminated Intravascular Coagulation (DIC)
- Characterized by widespread fibrin deposition, leading to simultaneous thrombosis and bleeding.
- Treatment varies depending on bleeding or thrombotic manifestations; fresh frozen plasma for bleeding, heparin for thrombosis.
Haemophilia
- Haemophilia A: deficiency in Factor VIII, X-linked recessive disorder, affecting males, prevalence 1 in 5000 to 1 in 10,000.
- Treatment includes FVIII concentrate administration, with DDAVP for mild cases.
- Haemophilia B: deficiency in Factor IX, similar prevalence and inheritance pattern as Haemophilia A.
FXI Deficiency
- Caused by recessive autosomal mutation, almost exclusively found in Ashkenazi Jewish population.
- Specific treatment information not provided, but typically involves replacement therapy for deficiencies.
General Considerations
- Education on management, avoiding aspirin and contact sports, and blood product awareness is crucial for patients with bleeding disorders.
- Genetic counseling is advised for inherited conditions.### Factor Deficiencies and Treatments
- FXI Deficiency: Treatment involves the administration of Factor XI concentrate.
- FVII Deficiency: Caused by an autosomal recessive mutation; treated with Factor VII concentrate.
- FV Deficiency: A rare autosomal recessive disorder treated using fresh frozen plasma (FFP).
- FXIII Deficiency: A rare autosomal recessive disorder characterized by severe bleeding shortly after birth; treated with Factor XIII concentrate.
Fibrinogen Deficiencies
- Apofibrinogenemia: Complete absence of fibrinogen, inherited in an autosomal recessive manner, leading to severe bleeding symptoms.
- Hypofibrinogenemia: Reduced fibrinogen levels creating milder symptoms compared to apofibrinogenemia.
- Dysfibrinogenemia: Abnormal fibrinogen molecules inherited in an autosomal dominant manner, resulting in either bleeding (50%) or thrombotic (10%) complications.
Coagulation Disorders
- DIC (Disseminated Intravascular Coagulation): Characterized by simultaneous thrombosis and bleeding due to widespread fibrin deposition, leading to thrombocytopenia and potential severe bleeding.
- Liver Disease: Impairs synthesis of various coagulation factors as well as thrombopoietin, affecting overall coagulation ability.
- Vitamin K Deficiency: Affects the post-translational modification of several clotting factors, decreasing their functionality.
- Warfarin Use: Inhibits vitamin K epoxide reductase, impairing clotting factor synthesis due to reduced vitamin K cycling.
Acquired Hemophilia
- Characteristics: Presence of an autoantibody against Factor VIII; can be idiopathic or associated with other conditions such as autoimmune diseases, malignancies, pregnancy, or drug use.
- Diagnosis: Confirmed through inhibitor assays.
- Treatment Options: Human FVIII is ineffective; alternatives include recombinant porcine FVIII and immunosuppressive therapy.
Platelet Count and Function
- Causes of Thrombocytopenia: Includes failure of marrow production, shortened lifespan, immune causes (e.g., ITP), non-immune causes (e.g., TTP, DIC), sequestration, and dilution.
- Inherited Platelet Function Defects: Consist of adhesion defects (e.g., VWD, BSS), activation defects, secretion defects (e.g., Gray platelet syndrome), and aggregation defects (e.g., Glanzmann's thrombasthenia).
- Acquired Platelet Function Defects: Encountered in conditions such as aspirin use, chronic renal failure, cardiopulmonary bypass, and hematological diseases.
Coagulation Defect Categorization
- Inherited Coagulation Defects: Include specific factor deficiencies (e.g., Hemophilia A, B) and fibrinogen abnormalities (apo/hypo/dysfibrinogenemia).
- Acquired Coagulation Defects: Include DIC, liver disease, vitamin K deficiency, and acquired hemophilia.
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Description
Test your knowledge on primary haemostatic disorders related to bleeding. This quiz covers manifestations like petechiae and epistaxes, and differentiates between primary and secondary disorders in terms of gender distribution. Challenge yourself to learn more about these crucial medical conditions.