Congenital bleeding disorders
Haemophilia A
Haemophilia A is defined as a congenital reduction in Factor VIII. Complete absence (<1%) is classified as severe and patients may have spontaneous or traumatic muscle, joint and deep tissue bleeding. Moderately severe disease (FVIII 1-5%) is characterised by musculoskeletal bleeding after mild trauma. Patients with mild haemophilia A (FVIII 6-30%) may have severe bleeding when tissues are damaged by surgery or trauma.
Mild haemophilia A may be treated with desmopressin (DDAVP). Patients with moderate or severe disease usually require recombinant factor VIII or plasma-derived concentrates (Biostate) to treat bleeding. Bleeding may be prevented by the use of emicizumab or prophylactic FVIII infusions.
Haemophilia B
Haemophilia B is defined as the congenital reduction in Factor IX (9). Haemophilia B is classified as mild (FIX 6-30%), moderate (FIX 1-5%) and severe (FIX <1%) with similar bleeding risk as Haemophilia A.
Treatment of bleeding episodes or prophylaxis involves administration of recombinant factor IX or plasma-derived FIX concentrates (MonoFIX-VF).
Prothrombinex-VF is no longer the preferred plasma-derived product of choice for haemophilia B, however a small number of patients remain on this product.
von Willebrand Disease
Von Willebrand disease is the most common inherited bleeding disorder. It’s caused by a quantitative or qualitative defect in von Willebrand factor (vWF) protein. The bleeding is typically mucocutaneous. Depending on the subtype, desmopressin (DDAVP) or plasma-derived factor VIII concentrates (Biostate) containing high molecular weight vWF multimers can be used for treatment of bleeds.
In the case of all of these disorders, patients are usually registered with and cared for by a Specialist Haemophilia Treatment Centre, who should be contacted when a patient presents to another clinical unit or for immediate specialist assistance (e.g. when head injury is suspected).
