| Abstract: |
Deficiencies of coagulation factors, other than factor VIII and factor IX, (afibrinogenemia, FII, FV, FV+FVIII, FVII, FX, FXI, FXIII), that cause rare bleeding disorders (RBDs), are inherited as autosomal recessive traits, with prevalences in the general population varying between 1 in 500.000 and 1 in 2 million for the homozygous forms. As a consequence of the rarity of these deficiencies, the type and severity of bleeding symptoms, the underlying molecular defects, and the actual management of bleeding episodes are not as well established as for hemophilia A and B.The study of the genetic basis of these disorders could represent an important tool for prevention, through prenatal diagnosis. Treatment of patients with RBDs during bleeding episodes or surgery is a challenge, because of the lack of experience, and the paucity of data. For some factors, factor concentrates are still non available, and severe complications can occur. These complications can be minimized by assessment of risks of bleeding and thrombosis, use of haemostatic means other than blood components, or no therapy at all. The RBDs pose a problem for guideline writers, because there are no suitable clinical trials to supply good evidence, for how these people are best treated. The lack of adequate information on clinical manifestations, treatment, and genetic basis of RBDs could be improved by the collection of data in an International Database (www.rbdd.org), linkable to others previously published. This could be a useful tool to fill the gap between clinical data and clinical practice.
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