Spontaneous haemarthroses only in severe factor deficiency
History and Examination
Try to determine whether this is an acquired or inherited bleeding problem, and whether this is a platelet disorder or a coagulation deficiency
How long have symptoms been present, and is the process local or general?
Platelet problems usually present with mucosal and skin bleeding whereas coagulation defects present with deep muscle haematomas, haemarthroses, but also have skin bruising.
Be alert to the possibility of non‐accidental injury, bleeding disorder associated with hepatic and renal disease and, rarely, connective tissue problems.
Full blood count, including platelets and blood film
Standard coagulation profile, including prothrombin time, APPT and fibrinogen
If there is a family history of von Willebrand’s disease (VWD) or a strong suspicion clinically, factor VIII studies including Ristocetin cofactor and von Willebrand factor antigen should be performed (“Von Willebrand’s screen”)
A sex linked condition but approximately 30% of new cases have no family history. Can be mild, moderate or severe depending on factor levels.
Prolonged APTT which corrects with normal plasma. All other tests normal.
Haemophilia B (Factor IX deficiency)
Similar to Haemophilia A with mild, moderate and severe cases.
Prolonged APTT which completely corrects with normal plasma. All other tests normal.
von Willebrand’s disease
A common mild bleeding disorder usually presenting with bruising and mucosal bleeding. Menorrhagia and post-partum haemorrhage are common problems in females. Inherited as an autosomal dominant in most cases.
Most common form is type 1 where there is a quantitative deficiency, i.e. reduced factor VIII coagulant, Ristocetin cofactor, and von Willebrand factor antigen. In type 2 disorders there is a quantitative abnormality with reduced Ristocetin cofactor relative to a von Willebrand factor antigen. A rare form is the severe type 3 disorder, where patients are homozygotes and levels of factor VIII coagulant, Ristocetin cofactor, and von Willebrand factor antigen are all markedly reduced.
Immune Thrombocytopaenic Purpura
A common disorder in children. ITP is the most common cause of thrombocytopaenia in childhood.
Two common causes of prolonged APTT not associated with bleeding are:
Factor XII deficiency and
A lupus-like anticoagulant which is usually a transient post-viral phenomenon, prolongs the APTT and is not corrected by mixing “50:50” with normal plasma
External Review: Catherine Cole (Paediatric and Adolescent Oncologist/Haematologist) – July 2015
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