Appendix A Characteristics of Rare Clotting Factor Deficiencies 24 - Severity of Missing Factor Incidence* Inheritance Treatment Bleeding Factor I Usually mild, •Fibrinogen conc. (Not Afibrinogenemia 5 in 10 million Autosomal recessive except in funded in Australia) Hypofibrinogenemia not available Recessive or dominant afibrinogenemia •Cryoprecipitate Dysfibrinogenemia 1 in 1 million Recessive or dominant •Fresh frozen plasma Factor II 1 in 2 million Autosomal recessive Moderate to severe •Prothrombin complex when factor levels conc. are low; usually •Fresh frozen plasma mild Factor V 1 in 1 million Autosomal recessive Moderate to severe •Fresh frozen plasma when factor levels are low; usually mild Combined Factor V 1 in 1 million† Autosomal recessive‡ Usually mild •Fresh frozen plasma and Factor VIII •Factor VIII conc. •Desmopressin Factor VII 1 in 500,000 Autosomal recessive Severe when factor •Recombinant Factor levels are low VIIa conc. •Factor VII conc. •Fresh frozen plasma Factor X 1 in 1 million Autosomal recessive Moderate to severe •Prothrombin complex when factor levels conc. are low •Fresh frozen plasma Combined not available Autosomal recessive Usually mild, but a •Vitamin K deficiency of few families have •Prothrombin complex vitamin Kdependent reported very low conc. clotting factors levels and more •Fresh frozen plasma severe symptoms Factor XI 1 in 100,000 Recessive or dominant Mild to moderate •Factor XI concentrate when factor levels •Antifibrinolytic drugs are low •Fibrin glue •Fresh frozen plasma Factor XIII 1 in 3 million Autosomal recessive Moderate to severe •Factor XIII conc. when factor levels •Cryoprecipitate are low •Fresh frozen plasma Note: Australian Prothrombin Complex Concentrate is not used for FVII deficiency * Estimates only † 1 in 100,000 in some populations, including Israel, Iran, and Italy ‡ Very rarely, Factor VIII deficiency can be inherited separately from only one parent
Appendix A Characteristics of Rare Clotting Factor Deficiencies 24 - Missing Factor Incidence* Inheritance Severity of Bleeding Treatment Factor I Afibrinogenemia Hypofibrinogenemia Dysfibrinogenemia 5 in 10 million not available 1 in 1 million Autosomal recessive Recessive or dominant Recessive or dominant Usually mild, except in afibrinogenemia •Fibrinogen conc. (Not funded in Australia) •Cryoprecipitate •Fresh frozen plasma Factor II 1 in 2 million Autosomal recessive Moderate to severe when factor levels are low; usually mild •Prothrombin complex conc. •Fresh frozen plasma Factor V 1 in 1 million Autosomal recessive Moderate to severe when factor levels are low; usually mild •Fresh frozen plasma Combined Factor V and Factor VIII 1 in 1 million† Autosomal recessive‡ Usually mild •Fresh frozen plasma •Factor VIII conc. •Desmopressin Factor VII 1 in 500,000 Autosomal recessive Severe when factor levels are low •Recombinant Factor VIIa conc. •Factor VII conc. •Fresh frozen plasma Factor X 1 in 1 million Autosomal recessive Moderate to severe when factor levels are low •Prothrombin complex conc. •Fresh frozen plasma Combined deficiency of vitamin Kdependent clotting factors not available Autosomal recessive Usually mild, but a few families have reported very low levels and more severe symptoms •Vitamin K •Prothrombin complex conc. •Fresh frozen plasma Factor XI 1 in 100,000 Recessive or dominant Mild to moderate when factor levels are low •Factor XI concentrate •Antifibrinolytic drugs •Fibrin glue •Fresh frozen plasma Factor XIII 1 in 3 million Autosomal recessive Moderate to severe when factor levels are low •Factor XIII conc. •Cryoprecipitate •Fresh frozen plasma Note: Australian Prothrombin Complex Concentrate is not used for FVII deficiency * Estimates only † 1 in 100,000 in some populations, including Israel, Iran, and Italy ‡ Very rarely, Factor VIII deficiency can be inherited separately from only one parent
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