Therefore, it is essential to define in a specialized comprehensive care setting when and which prophylaxis should be given. Introduction  Rare bleeding disorders include the inherited deficiencies of fibrinogen, FII, FV, FV+VIII, FVII, FX, FXI, FXIII and combined deficiency of vitamin-K dependent factors. Recent issues of Haemophilia (November 2008) and Seminars of Thrombosis and Hemostasis (June 2009) have covered the main available treatments

for RBDs. The personal and familial history of each patient needs to be taken into account before choosing the most appropriate therapeutic approach. see more Dosages and frequency of treatments depend on the minimal haemostatic level of the deficient factor (a matter of controversy), its plasma half-life (which varies with age and even in individuals with the same age and the same level of factor)

and the type of bleeding episode [6]. Replacement therapy is effective in treating bleeding episodes in RBDs. Depending on their availability, patients receive fresh frozen plasma (FFP), cryoprecipitate or factor concentrates. The latter is the treatment of choice because GDC-0973 chemical structure it is safer than FFP or cryoprecipitate (decreased risk of blood-borne pathogen transmission), there is no fluid overload and more precise dosing can be accomplished. If the evidence for the optimal use of products in case of replacement therapy in RBDs is already limited, it is almost non-existent for prophylaxis (FXIII being an exception). Discussion  The conventional treatment (treatment on demand) for most RBD is episodic treatment administered as soon as possible after onset of bleeding. The other approach (prophylaxis) consists of giving either products from an early age to prevent bleeding and, in case of surgery or pregnancy, to prevent bleeding and/or miscarriage (primary prophylaxis) or after bleeding to prevent recurrences (secondary prophylaxis). The UK guidelines on therapeutic products for coagulation disorders provide recommendations about the best treatment options (dosage, management of bleeding, surgery and pregnancy as well as prophylaxis)

for RBDs [7]. In theory, prophylactic administration of factors is the best option for patients with severe RBDs. However, this option has check details to be counter-balanced by the possible transmission of infectious agents, allergic reactions, venous access problems, development of inhibitors, risk of thrombotic complications, Transfusion-Related Acute Lung Injury due to cytotoxic antibodies contained in the infused plasma, and cost. Furthermore, even for some severe RBDs, patients can bleed less than severe haemophiliacs and long asymptomatic periods are not uncommon. For example, in a retrospective survey on patients with afibrinogenaemia (or severe hypofibrinogenaemia), the mean annual incidence of bleeding episodes in patients treated on demand was 0.7 (0–16.5) whereas it was 0.5 (0–2.