Haemophilia

Question 1

Define Haemophilia

Answer 1

Bleeding disorder/diathesis which resulting from an inherited deficiency of a clotting factor

Haemophilia A: Deficiency in factor VIII (most common)
Haemophilia B: Deficiency in factor IX (Christmas disease)
Haemophilia C: Deficiency in factor XI (rare)

Question 2

Aetiology of Haemophilia

Answer 2

Haemophilia A and B have a X-linked recessive pattern of inheritance (boys/men exclusively affected, but females may have clotting factors in the haemophilia range due to lyonisation, Turner’s)

Acquired haemophilia: auto-immune aetiology, auto-antibody formation

Question 3

Risk factors Haemophilia

Answer 3

Family history of haemophilia
Male sex
Age >60
Autoimmune disorders, inflammatory bowel disease, diabetes, hepatitis, pregnancy, postnatal, or malignancy (acquired haemophilia)

Question 4

Symptoms of Haemophilia

Answer 4

Recurrent or prolonged or severe bleeding (spontaneous, trauma-induced, excessive after surgery or dental procedures, recurrent nasal/oral bleeding)
Bleeding into muscles -> pain and welling, reduced range of motion, erythema and warmth
Epistaxis
Haemarthrosis -> pain, warmth, reduced range of motion
Intracranial bleed -> hypoactivity, reduced oral intake, irritability, seizure, pallors, headache, vomiting, irritability
Excessive bruising
Fatigue
Menorrhagia
Painful and distended abdomen

Question 5

Signs of Haemophilia

Answer 5

Prolonged bleeding following heel prick
Haemarthrosis -> reduced range of motion, increased warmth
Excessive bruising
Extensive cutaneous purpura
Gi bleeds and haematuria
Distended, painful abdomen
Pallor, tachycardia, tachypnoea, hypotension

Question 6

Investigations for Haemophilia

Answer 6

aPTT: prolonged
PT and vWF: normal
Plasma factor VIII and IX: reduced

FBC: normal, may have anaemia if bleed
Plasma V, VII, XI, and XII assay: normal 
Closure/bleeding time: normal
Platelet aggregation: normal
LFTs: exclude liver dysfunction 

X-ray: findings of acute joint bleeding (haemarthrosis) or bone changes
Head/neck CT/MRI: acute bleeding
Abdomen USS/CT: acute bleeding