Combined Factor V and VIII Deficiency

This review summarizes current data on the pathomechanismsand new genetic findings of combined factor v and viii deficiency(cf5f8d). congenital haemorrhagic disorders characterizedby deficiency of two clotting factors comprise an interestinggroup. among dual coagulation disorders, cf5f8d isthe most common type. for the first time combined factor vand viii deficiency (f5f8d) was reported by oeri et al in1954. that is distinct from the coinheritance of both fv deficiency(parahaemophilia) and fviii deficiency (haemophiliaa) that has been reported in four families. individuals whopresent with this phenotype have between 5 and 30% of normalplasma levels of fv and fviii antigen and activity,whereas the level of other plasma proteins are not altered. totalnumbers of affected individuals are less than 150 cases allover the world. at first it was assumed that deficiency of proteinc inhibitor was a responsible cause, but further investigationsrevealed that it was due to mutations called ergic-53and lman-1.