Combined Factor V and Factor VIII Deficiency.
Combined deficiency of factor V (FV) and factor VIII (FVIII) (F5F8D, or FV+FVIII) is a autosomal recessive bleeding disorder caused by mutations in genes encoding two components of the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC-53), that is, lectin mannose binding protein ( LMAN1) and multiple coagulation factor deficiency 2 ( MCFD2), involved in the FV and FVIII intracellular transport rather than by DNA defects in the genes that encode the corresponding coagulation factors. F5F8D is estimated to be extremely rare (1:1,000,000) in the general population, but an increased frequency is observed in regions where consanguineous marriages are practiced. F5F8D is characterized by concomitantly low levels (usually between 5% and 20%) of both FV and FVIII and is associated with a mild to moderate bleeding tendency. Treatment of bleeding episodes requires a source of both FV and FVIII; replacement of FV is achieved only through use of fresh-frozen plasma (FFP) and replacement of FVIII by FFP and desmopressin or specific FVIII concentrates (plasma-derived or recombinant FVIII products).
Spreafico
Marta
M
A. Bianchi Bonomi Hemophilia and Thrombosis Center, Department of Medicine and Medical Specialties, IRCCS Maggiore Hospital, Mangiagalli and Regina Elena Foundation, University of Milan, 20122 Milan, Italy.
Peyvandi
Flora
F
D003241:Consanguinity; D005165:Factor V / Q000235:genetics; D005166:Factor V Deficiency / Q000097:blood / Q000235:genetics*; D005169:Factor VIII / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D005838:Genotype; D006467:Hemophilia A / Q000097:blood / Q000235:genetics*; D006801:Humans; D008297:Male; D037241:Mannose-Binding Lectins / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D010641:Phenotype; D033921:Vesicular Transport Proteins / Q000235:genetics*
C084004:LMAN1 protein, human; C475146:MCFD2 protein, human; D037241:Mannose-Binding Lectins; D008565:Membrane Proteins; D033921:Vesicular Transport Proteins; D005165:Factor V; D005169:Factor VIII