Déficit combiné en facteurs V et VIII de la coagulation : ou quand la génétique nous explique les déficits combinés de facteurs de la coagulation

Combined deficiency of factor (F) V and FVIII (F5F8D) that was first described in 1954 is a coagulation disorder distinct from the other single factor deficiencies. Studies of families with F5F8D have provided important data on clinical symptoms of this disorder and led to identify two different genes involved in the simultaneous decrease of FV and FVIII levels. These studies have also yielded significant insights into the intracellular transport of newly synthesized FV and FVIII from the ER to the Golgi, and thus enhanced our understanding of the two factors biosynthesis. So, molecular mechanisms of FV and FVIII production may constitute new drug targets for the treatment of venous thrombosis.