HAEMOPHILIA

Question 1

What is Haemophilia?

Answer 1

X-Linked Recessive bleeding condition that results from the deficiency of coagulation factor

Question 2

What are the two types of Haemophilia?

Answer 2

A: deficiency of clotting factor VIII

B: deficiency of clotting factor IX

Question 3

What is acquired haemophilia?

Answer 3

A rare autoimmune bleeding disorder where the immune system attacks blood clotting factor VIII

most common in older people (>60yo)

Question 4

What is the pathophysiology of Haemophilia?

Answer 4

Flip-tip inversion in factor 8 or 9 gene in X chromosome

Deficiency in clotting factors means a weak platelet plug is formed

There is then an incomplete and/or delayed fibrin clot which allows bleeding to continue

Question 5

What are the symptoms of Haemophilia?

Answer 5

Arthropathy

Excessive bleeding after trauma or surgical procedure

Recurrent basal/oral mucosa bleeding

Easy bruising

Menorrhagia

Fatigue

Question 6

What are the signs of haemophilia?

Answer 6

Bleeding in joints (haemarthrosis)

Haematomas

Bleeding into muscles

Abnormal intracranial haemorrhages, haematomas and cord bleeding in neonates

Question 7

What are the risk factors of Haemophilia?

Answer 7

FHx

Male Sex

Question 8

What is Vitamin K deficiency?

Answer 8

Low vitamin K leading to insufficient production of proteins needed for clotting process

Question 9

What test would you do for Haemophilia?

Answer 9

aPTT: prolonged

Plasma Factor VIII and IX assay: low or no factor VIII or IX

Mixed Study: aPTT corrected

FBC: anaemia

PT: normal

Question 10

What is the treatment of Haemophilia A?

Answer 10

Factor VIII Concentrate

Desmopressin (releases vW antigens to increase factor VIII and promote clotting)

Tranexamic acid (oral antifibrinolytic agent)

Question 11

How do you treat haemophilia B?

Answer 11

Factor IX concentrate

Tranexamic acid (antifibribrinolytic agent)

Question 12

What do you use if bleeding persist after treatment of Haemophilia?

Answer 12

Immune tolerance induction + prophylaxis

It remove inhibitor of Factor VII or IX

Question 13

How does haemophilia prophylaxis work?

Answer 13

Factor IX given 2x per week

Factor VII given on alternative days (3x per week)

Question 14

How is Acquired Haemophilia treated?

Answer 14

Recombinant Porcine Factor VIII

Prednisolone (immunosuppressant)

Question 15

Which drug should people with clotting disorders avoid and why?

Answer 15

Aspirin

It interferes with the agglutination of platelets and adds to bleeding problem