Haemophilia Flashcards
What are Haemophilia A and B?
They are severe inherited bleeding disorders
What is the mode of inheritance of haemophilia?
X-linked recessive
What clotting factor are those with haemophilia A deficient in?
Factor VIII
What clotting factor are those with haemophilia B deficient in?
Factor IX
What is the presentation of haemophilia?
Spontaneous bleeding
Excessive bleeding
Easy bruising
Fatigue
Haemarthrosis - spontaneous bleeding into joints
Cutaneous purpura
What investigations are used in the diagnosis of haemophilia?
aPTT - usually prolonged
Plasma factor VIII and IX levels - decreased or absent
Mixing study - mixing patients plasma with normal plasma corrects aPTT
FBC
Prothrombin time - usually normal
Plasma vWF - to exclude von willebrand disease
LFTs - excluse liver disease as a cause of deficient coagulation
What is the management of mild to moderate haemophilia with no active bleeding?
Patient education
Avoidance of high risk activity
Joint strengthening exercises
What are common sites of bleeding in haemophilia?
Oral mucosa
Epistaxis
GI tract
Urinary tract - haematuria
Intracranial haemorrhage
Surgical wounds
What is the management of severe haemophilia with no active bleeding?
Prophylactic clotting factors
- IV replacement given at least 45 weeks of the year
What is the management of acute haemorrhage in haemophilia?
ABCDE
Urgent input from haematology and relevant specialty
Urgent clotting factor administration
Antifibrinolytics - tranexamic acid
Desmopressin
What is the complication of treatment with clotting factors?
Antibodies to the clotting factors can form, resulting in the treatment becoming ineffective
What clotting pathway does PT measure?
Extrinsic pathway
What clotting pathway does APTT measure?
Intrinsic pathway
What clotting factors are involved in the intrinsic pathway?
Factor VIII, vWF, IX and XI
Which conditions may result in an abnormal APTT?
Haemophilia A
Haemophilia B
Haemophilia C
von Willebrands disease
