Inherited Bleeding Disorders

Question 1

What is Haemophilia?

Answer 1

X linked recessive disorder
Decrease in coagulation factors leading to easy bleeding
Affects mainly males

Can be due to factor VIII deficiency (A) or factor IX (B)

Question 2

What are the symptoms of haemophilia?

Answer 2

Easy bruising
Prolonged bleeding in response to minor trauma or no trauma at all
Haemoarthrosis
Haematoma- blood accumulation in extravascular spaces
Epistaxis
Intracranial haemorrhage

Question 3

What investigations are needed?

Answer 3

PT- normal
APTT- raised

Assays for VIII or IX deficiency

Question 4

What is the management of haemophilia?

Answer 4

Avoid contact sport, NSAIDs and IM injections

Replacement of deficient factor either prophylactically or in response to bleeding

In excessive bleeding or to prevent excessive bleeding e.g. surgery

• Factor infusions
• desmopressin to stimulant vWF production (Type A specifically)
• antifibrinolytics especially tranexamic acid

Can get autoimmune reaction against external clotting factors causing treatment to be ineffective

Question 5

What is von Willebrands Disease?

Answer 5

Autosomal dominant disorder (except type 3 which is autosomal recessive)

Most common inherited bleeding disorder

Abnormalities with levels of function of vWF causing clotting abnormalities

Question 6

What are the different types of vWF?

Answer 6

Type 1- due to relative deficiency in vWF

Type 2- abnormal functioning of vWF

• 2A and M- abnormal binding of vWF to platelets
• 2B- excessive binding of vWF to platelets causing clumps and destruction of platelets
• 2N- excessive binding of vWF to factor VIII

Type 3- complete deficiency in vWF and also Factor VIII

Question 7

What are the symptoms?

Answer 7

Easy bruising
Prolonged bleeding in response to minor trauma
Epistaxis
Bleeding gums when brushing
Menorrhagia

Type 3

• haemoarthrosis
• haematomas
• GI bleeding

Question 8

What investigations are needed?

Answer 8

PT is normal
APTT increased
Platelets decreased in Type 2B
Factor VIII decreased in Type 3

No single test to diagnose

Question 9

What is the management?

Answer 9

Avoid contact sports

Desmopressin to stimulate vWF production for type 1 and 2
vWF transfusion in type 3 (normally with Factor VIII)

For menorrhagia
-tranexamic acid, COCP, mirena coil and hysterectomy if severe