Bleeding Disorders 2

Questions and Answers

Which of the following is a manifestation of primary haemostatic disorders related to bleeding?

Deep vein thrombosis

Petechiae (correct)

Hemophilia

Pulmonary embolism

What distinguishes primary haemostatic disorders from secondary coagulation disorders in terms of gender distribution?

Secondary disorders are less common in males.

Primary disorders are mainly found in males.

Primary disorders have equal gender distribution. (correct)

Secondary disorders affect females only.

Which disorders typically present with immediate bleeding symptoms?

Thrombocytopenia and von Willebrand disease (correct)

Venous thromboembolism

Platelet deficiency related disorders

Coagulation disorders

Coagulation disorders typically exhibit which of the following symptoms?

Delayed bleeding symptoms Signup and view all the answers

What condition is characterized by a decreased platelet count?

Thrombocytopenia Signup and view all the answers

Which type of disorders is associated with bleeding defects related to vascular issues?

Primary haemostatic disorders Signup and view all the answers

What type of defect may lead to issues relating to coagulation?

Coagulation defects Signup and view all the answers

What is another name for thrombocytes?

Platelets Signup and view all the answers

What is the normal range for platelet count in the blood?

150 - 400 x 10^9/L Signup and view all the answers

At what platelet count level is treatment typically initiated for thrombocytopenia?

50 x 10^9/L Signup and view all the answers

Which of the following is a potential cause of thrombocytopenia due to failure of marrow production?

Leukemia Signup and view all the answers

What is dilutional thrombocytopenia?

Thrombocytopenia from massive blood transfusion Signup and view all the answers

Which type of thrombocytopenia is characterized by a sudden onset in children?

Acute ITP Signup and view all the answers

In chronic ITP, where are platelets primarily destroyed?

Spleen and liver Signup and view all the answers

Which drug is known to potentially induce thrombocytopenia?

Penicillin Signup and view all the answers

How common is spontaneous remission in chronic ITP?

Uncommon Signup and view all the answers

What percentage of children with acute ITP experience spontaneous remission after a few weeks?

90% Signup and view all the answers

What characteristic feature is often observed in platelets affected by ITP?

Increased size Signup and view all the answers

What is the primary mechanism leading to thrombocytopenia in TTP?

Formation of von Willebrand factor (vWF) multimers Signup and view all the answers

What characterizes inherited TTP compared to acquired TTP?

Defectiveness of the protease responsible for breaking down vWF Signup and view all the answers

Which is a key diagnostic indicator of TTP?

Schistocytosis Signup and view all the answers

How does the coagulation status in TTP differ from that in DIC?

Coagulation is normal in TTP Signup and view all the answers

What is the primary treatment approach for TTP?

Plasma exchange Signup and view all the answers

What unique feature characterizes DIC?

Simultaneous occurrence of thrombosis and bleeding Signup and view all the answers

What are potential consequences of DIC-related ischemia?

Gangrene Signup and view all the answers

Which treatment is indicated in cases of predominating bleeding in DIC?

Fresh frozen plasma Signup and view all the answers

Which of the following is not a characteristic of disseminated intravascular coagulation (DIC)?

Stable clot formation Signup and view all the answers

Which of the following is classified as an inherited disorder of platelet function?

von Willebrand disease (VWD) Signup and view all the answers

What is the most common inherited bleeding disorder?

von Willebrand disease Signup and view all the answers

Which coagulation test result is often prolonged in von Willebrand disease?

Activated partial thromboplastin time (aPTT) Signup and view all the answers

What role does von Willebrand factor (vWF) play in hemostasis?

Platelet adhesion and carries Factor VIII Signup and view all the answers

What types of mutations can cause von Willebrand disease?

Autosomal recessive or dominant mutations of vWF Signup and view all the answers

In individuals with von Willebrand disease, how do platelets typically function when aggregating to ristocetin?

Aggregation is defective Signup and view all the answers

Which medication can be used to induce the release of von Willebrand factor from the endothelium?

Desmopressin (DDAVP) Signup and view all the answers

What characteristic symptom is associated with von Willebrand disease?

Prolonged bleeding Signup and view all the answers

What is the inheritance pattern of the mutations causing von Willebrand disease?

Autosomal dominant or recessive Signup and view all the answers

When treating von Willebrand disease, which agent is typically not necessary for some individuals?

Treatment is always necessary Signup and view all the answers

What is a notable feature of platelet numbers and morphology in von Willebrand disease?

Normal platelet number and morphology Signup and view all the answers

What is the primary defect observed in Glanzmann's thrombasthenia?

Deficiency in αIIbβ3 Signup and view all the answers

What is the inheritance pattern of Haemophilia A?

X-linked recessive Signup and view all the answers

What is the risk of major bleeding associated with aspirin therapy?

Less than 1% per year Signup and view all the answers

How is the severity of Haemophilia A determined?

By the levels of Factor VIII Signup and view all the answers

Which treatment option is NOT recommended for patients with bleeding due to aspirin therapy?

Antibiotic therapy Signup and view all the answers

What is the most common inherited bleeding disorder?

von Willebrand disease (vWD) Signup and view all the answers

How does chronic renal failure affect platelet function?

It results in multiple platelet defects Signup and view all the answers

What type of disorder is Haemophilia B?

X-linked recessive Signup and view all the answers

What characterizes Haemophilia A?

Deficiency in Factor VIII Signup and view all the answers

What is the treatment for FXI deficiency?

Factor XI concentrate Signup and view all the answers

Which condition results in increased bleeding time due to high nitrogen levels in the blood?

Chronic renal failure Signup and view all the answers

What occurs during cardiopulmonary bypass in terms of platelet function?

Platelet activation and degranulation occur Signup and view all the answers

Apofibrinogenemia is characterized by what condition?

Absence of fibrinogen Signup and view all the answers

How is dysfibrinogenemia inherited?

Autosomal dominant Signup and view all the answers

What is the main cause of reduced coagulation in bleeding disorders?

Deficiency in a coagulation factor Signup and view all the answers

Which population is FXI deficiency almost entirely confined to?

Ashkenazi Jews Signup and view all the answers

What is the primary treatment option for acquired platelet disorders resulting from cardiopulmonary bypass?

Platelet transfusion Signup and view all the answers

What does DIC stand for?

Disseminated Intravascular Coagulation Signup and view all the answers

What is the prevalence of Haemophilia A in males?

1 in 5000 to 1 in 10,000 Signup and view all the answers

How does the severity of vWD vary?

It varies among individuals Signup and view all the answers

What are the characteristic features of disseminated intravascular coagulation (DIC)?

Thrombosis and bleeding occurring simultaneously Signup and view all the answers

How does liver disease impact coagulation factor synthesis?

It slows down the synthesis of specific clotting factors Signup and view all the answers

What role does vitamin K deficiency play in coagulation factor synthesis?

It reduces the post-translational modification of several clotting factors Signup and view all the answers

Which of the following is a common cause of acquired hemophilia?

Autoimmune diseases Signup and view all the answers

What is a known treatment option for acquired hemophilia?

Recombinant porcine FVIII Signup and view all the answers

Which of the following is a cause of decreased platelet number (thrombocytopenia)?

Sequestration Signup and view all the answers

Which inherited defect is characterized by issues with platelet adhesion?

Von Willebrand disease (VWD) Signup and view all the answers

What is a common acquired platelet function defect?

Aspirin use Signup and view all the answers

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.