Bleeding Disorders

Question 1

What is Haemophilia A?

Answer 1

Deficiency of factor 8

Question 2

What is Haemophilia B?

Answer 2

Deficiency of factor 9

Question 3

What is the most common inherited bleeding disorder?

Answer 3

Von Willebrand disease

Haemophilia A

Question 4

What is the mode of inheritence of haemophilia A and B?

Answer 4

X linked recessive

Question 5

How does heamophilia A and B present?

Answer 5

Haemarthrosis/bleeding into joint

• Tense swollen knee without injury

Haematuria

Muscle haematoma

CNS bleeding

Retroperitoneal bleeding

Post surgical bleeding

Secondary arthritis

Question 6

What investigations are used in haemophilia A and B diagnosis?

Answer 6

Factor 8/9 Assay

Increased APTT

• As intrinsic pathway is affected

Normal PT, platelets and vWF

Genetic analysis

Question 7

How is haemophilia A and B managed?

Answer 7

Haemophilia A

• Purified factor 8
• Desmopressin, which increases factor 8 levels

Haemophilia B

• Factor 9 injections

Tranexamic Acid

Gene therapy

Question 8

What is the prophylactic management of haemophilia A and B?

Answer 8

Splints

Physiotherapy

Analgesia

Synovectomy

Joint replacement

Regular coagulation factor injections

Question 9

What does Residual Coagulation Factor Activity assess?

Answer 9

Severity of bleeding

Question 10

What is mild haemophilia?

Answer 10

5-30% residual coagulation factor activity

Question 11

What is moderate haemophilia?

Answer 11

1-5% residual coagulation factor activity

Question 12

What is severe haemophilia?

Answer 12

<1% residual coagulation factor activity

Question 13

Give complications of haemophilia A and B

Answer 13

Synovitis

Chronic haemophilic arthropathy, arthritis caused by bleeding into joints

Compartment syndrome

Other sequelae of bleeding, such as stroke

Question 14

What is type 1 Von Willebrand disease

Answer 14

Partial reduction in vWF

Question 15

What is type 2 Von Willebrand disease?

Answer 15

Abnormal form of vWF

Question 16

What is type 3 Von Willebrand disease?

Answer 16

Total lack of vWF, autosomal recessive

Question 17

What mode of inheritence is von willebrand disease?

Answer 17

Various subtypes, however the most common is autosomal dominant

Question 18

How does von willebrand disease present?

Answer 18

Mucosal/capillary bleeding

Easy bruising

Question 19

What investigations are used in von willebrand disease?

Answer 19

Low or abnormal vWF

Slightly increased APTT

Normal PT

Normal platelets

Prolonged bleeding time

Question 20

How is von willebrand disease managed?

Answer 20

vWF concentrate

Tranexamic acid for mild bleeding

DDVAP (Desmopressin) infusions

• Induces release of vwf

Question 21

What is autoimmune thrombocytopenic purpura (ITP)?

Answer 21

Thrombocytopenia characterised by antibodies against the antigens on the platelet surface, resulting in removal via the reticuloendothelial system

Question 22

What age group does ITP affect?

Answer 22

Middle aged women and children

Question 23

How does ITP present?

Answer 23

Recurrent epistaxis

Ecchymosis/bruising

Gingival bleeding

Menorrhagia

Recent URTI

Question 24

What investigations are used in ITP?

Answer 24

FBC

• Thrombocytonpenia

Blood film

Bone marrow biopsy

Question 25

How is ITP managed?

Answer 25

Emergency * Platelet transfusion * IV methylprednisilone * IV immunoglobulin If platelet count is over 30 * Observation If platelet count is less than 30 * Oral prednisilone, first line * IV immunoglobulin * If resistant, consider splenectomy

Question 26

What is thrombotic thrombocytopenic purpura?

Answer 26

Deficiency of enzyme ADAMTS13 which breakdowns large multimers of von Willebrand's factor

Question 27

What causes thrombotic thrombocytopenic purpura?

Answer 27

Post-infection Pregnancy Drugs * Ciclosporin * Oral contraceptive pill * Penicillin * Clopidogrel * Aciclovir Tumours SLE HIV

Question 28

What are features of thrombotic thrombocytopenic purpura?

Answer 28

Rare, typically adult females Fever Fluctuating neuro signs Microangiopathic haemolytic anaemia Thrombocytopenia Renal failure

Question 29

What is Wiskott-Aldrich syndrome?

Answer 29

Primary X linked recessive immunodeficiency due to a combined B and T cell dysfunction, caused by mutation in the WASP gene and characterised by recurrent bacterial infections, eczrma and thrombocytopaenia

Question 30

At what platelet level is autoimmune thrombocytopenic purpura treated?

Answer 30

Only treat if platelets \<30x10^9/l

Question 31

What coagulation factors are affected with heparin?

Answer 31

Affects activation of 2 9 10 11

Question 32

What factors are affected with warfarin?

Answer 32

Affects synthesis of 2 7 9 10

Question 33

What coagulation factors are affected by DIC?

Answer 33

1 2 5 8 11

Question 34

What coagulation factors are affected in liver disease?

Answer 34

1 2 5 7 9 10 11

Question 35

What are the blood clotting results in haemophilia?

Answer 35

APTT inncreased PT normal Bleeding time normal

Question 36

Describe the blood clotting results in vWd

Answer 36

APTT increased PT normal Bleeding time increased

Question 37

Describe the blood clotting results in vitamin K deficiency

Answer 37

APTT increased PT increased Bleeding time normal

Question 38

Give causes of thrombocytopenia

Answer 38

DIC Haemotological malignancy Aspirin Diuretics Alcohol Liver disease Hypersplenism EBV, HIV, Hepatitis Pregnancy SLE, antiphospholipid syndrome Vitamin B12 deficiency

Question 39

What is the mode of action of LMWH?

Answer 39

Activates antithrombin III and forms a complex that inhibits factor Xa

Question 40

What monitoring is used in LMWH?

Answer 40

Anti factor Xa, although routine monitoring is not necessary

Question 41

What monitoring is used in standard heparin?

Answer 41

Increased APTT

Question 42

What is the mode of action of standard heparin?

Answer 42

Activates antithrombin III and forms a complex that inhibits thrombin, factors Xa, IXa, Xia and XIIa

Question 43

How is heparin induced thrombocytopenia managed?

Answer 43

Switch to a direct thrombin inhibitor, such as argatroban