Table 1 updated classification of the FMCFDs*
From: Hereditary combined deficiency of the vitamin K-dependent clotting factors
FMCFDs arising from co-incidental single coagulation factor deficiencies: |
|---|
• Combined VWD and FXI deficiency |
• Combined VWD and haemophilia A |
• Combined VWD and haemophilia B |
• Combined haemophilia A and FXI deficiency |
• Other rarer co-incidental disorders |
FMCFDs arising from single genetic defects: |
FMCFDs with bleeding as the dominant clinical feature: |
• Combined FV and FVIII deficiency |
• Combined vitamin K-dependent coagulation factor deficiency |
FMCFDs with bleeding as part of a wider syndrome complex: |
• Congenital disorders of glycosylation |
• Noonan syndrome |
• Inborn errors of liver synthetic function or bile secretion |
FMCFDs arising from cytogenetic defects: |
• 13q34 deletion syndromes (combined FVII and FX deficiency) |