Bleeding disorders

Question 1

What disorders are included in bleeding disorders?

Answer 1

Vascular defects (bruising)

Platelet disorders (low function)

Coagulation (factor def)

Mixed (DIC)

Question 2

Which types of disorders present with immediate superficial bleeding after injury?

Answer 2

Platelet disorders
Vascular defects

Question 3

Which types of disorders present with prolonged bleeding into deep tissues?

Answer 3

Coagulation disorders

Question 4

Congenital vascular defect examples?

Answer 4

• Osler Weber Rendu syndrome
• Connective tissue disease e.g. ehlers danlos

Question 5

Acquired examples of vascular defects?

Answer 5

• Senile purpura
• infection
• steroids
• scurvy

Question 6

What can cause acquired decrease in platelet function?

Answer 6

Aspirin use
Cardiopulmonary bypass
Uraemia

Question 7

What can cause congenital decrease in platelet function?

Answer 7

Storage pool disease
Thrombasthenia (glycoprotein deficiency)

Question 8

What causes thrombocytopenia via decreased production?

Answer 8

Bone marrow failure (many disorders cause this)

Question 9

What causes thrombocytopenia via destruction?

Answer 9

Auto-immune thrombocytopenic purpura (AITP / ITP)

Drugs : heparin, DIC, HUS, TTP

Question 10

What is the common presentation of acute Immune thrombocytopenic pupura

Answer 10

Children 2-6

Abrupt onset preceding infection, lasts for 2-6 weeks and usually self limiting

Question 11

What is the common presentation of chronic Immune thrombocytopenia?

Answer 11

Adult women, abrupt and indolent.

Long term with acute flares - autoimmune disease connection

Unlikely to resolve

Question 12

What is the underlying deficiency in Haemophilia A?

Answer 12

Factor VIII deficiency

Question 13

What is the inheritance pattern of Haemophilia A?

Answer 13

X-linked recessive (affecting 1 in 10,000 males)

Question 14

How does Haemophilia A typically present?

Answer 14

Often early in life or as prolonged bleeding after surgery/trauma

Question 15

What are the diagnostic tests for Haemophilia A?

Answer 15

↑ APTT
Normal PT
↓ Factor VIII assay

Question 16

How is the severity of Haemophilia A classified?

Answer 16

Severe: Factor VIII <1%

Moderate: Factor VIII 1-5%

Mild: Factor VIII 5-25%

Question 17

How is Haemophilia A managed?

Answer 17

• Avoid NSAIDs and IM injections
• Prophylaxis with factor VIII in severe cases
• Factor VIII treatment for bleeds in milder cases

Question 18

Can Haemophilia A be acquired? If so, how is it treated?

Answer 18

Yes, it can be a rare autoimmune condition treated with immune suppression

Question 19

What is the underlying deficiency in Haemophilia B?

Answer 19

Factor IX deficiency

Question 20

What is the inheritance pattern of Haemophilia B?

Answer 20

X-linked recessive (affecting 1 in 50,000 males)

Question 21

How does Haemophilia B present?

Answer 21

: Clinically similar to Haemophilia A

Question 22

How is Haemophilia B managed?

Answer 22

Factor IX concentrates (either as prophylaxis or for bleeds)

Question 23

What are the two broad types of Von Willebrand’s Disease (VWD)?

Answer 23

• Quantitative (deficiency of VWF)
• Qualitative (poor function of VWF)

Question 24

What are the three types of Von Willebrand’s Disease?

Answer 24

• Type 1: Low levels of VWF
• Type 2: Deficiency in VWF function (mutations causing poor function)
• Type 3: Absent VWF – can present like haemophilia

Question 25

How does Von Willebrand’s Disease affect coagulation factors and platelets?

Answer 25

↓ Platelet function ↓ Factor VIII (VWF carries factor VIII in circulation)

Question 26

What is the inheritance pattern of Von Willebrand’s Disease?

Answer 26

Mostly autosomal (affecting 1 in 10,000)

Question 27

How does Von Willebrand’s Disease typically present?

Answer 27

- Bleeding indicative of platelet disorders (e.g., mucocutaneous bleeding) Can also include bleeding indicative of coagulation disorders

Question 28

What are the key diagnostic findings in Von Willebrand’s Disease?

Answer 28

- APTT & INR: Can be normal, but APTT may be prolonged - ↓ Factor VIII - ↓ VWF antigen (VWF Ag) (or normal antigen with reduced function in type 2) - Normal platelet count - Abnormal Ristocetin co-factor assay

Question 29

How is Von Willebrand’s Disease managed?

Answer 29

Prophylaxis in some patients Treatment of bleeds: - Tranexamic acid - Desmopressin (induces release of VWF from Weibel-Palade bodies in endothelial cells) - Combined VWF and Factor VIII concentrates

Question 30

What is DIC?

Answer 30

Disseminated intravascular coagulation - widespread activation of coagulation using up clotting factors and platelets causing a risk of bleed

Question 31

What are the causes of DIC?

Answer 31

Cancer Sepsis Trauma Obstetric complications TOxins

Question 32

What is the biochemistry of DIC?

Answer 32

Low plts, low fibrinogen, high FDP/D-Dimer, prolonged PT/INR

Question 33

What does liver failure do to bleedingg?

Answer 33

↓ synthesis of II, V, VII, IX, X, XI and fibrinogen - High levels of VIII / VWF - absorption of vitamin K - abnormalities of platelet function - note that chronic liver disease is often a prothrombotic state despite having prolonged INR/APTT

Question 34

What vitamin is needed for synthesis of factors 2, 7, 9 and 10?

Answer 34

Vitamin K

Question 35

What causes vitamin K deficiency?

Answer 35

Warfarin, vitamin K malabsorption/malnutrition, Abx therapy, biliary obstruction

Question 36

How to treat vitamin K deficiency?

Answer 36

IV vitamin K or FFP for acute haemorrhage