Table 2

Clinical symptoms in severe RBDs

RBDAfibrinogenemia; hypo- and dysfibrinogenemiaProthrombin deficiencyFV deficiencyCombined FV and FVIII deficiencyFVII deficiencyFX deficiencyFXI deficiencyFXIII deficiencyVitamin K-dependent factors deficiency
Main bleeding symptoms for severe deficienciesAFIBRINOGENEMIA:
Common:
Umbilical cord
Epistaxis
First-trimester abortion

Less common:
Skin
GI
Genito-urinary tract
CNS
Menorrhagia

Uncommon:
Musculoskeletal
Common:
Subcutaneous and muscle hematomas
Prolonged post-injury
Mucosal tract
Hemarthrosis
Menorrhagia

Less common:
Postoperative

Uncommon:
CNS
GI
Common:
Epistaxis
Menorrhagia
Skin
Mucosal tract
Postoperative

Less common:
Umbilical cord
Hematomas
Hemarthrosis

Rare:
CNS
GI
Common:
Easy bruising
Epistaxis
Gingival postoperative
Post-dental extraction
Post circumcision
Menorrhagia
Post partum

Uncommon:
Hemarthrosis
Umbilical cord

Rare:
CNS
GI
Common:
Easy bruising
Epistaxis
Gum bleeding
Menorrhagia
After surgery

Less common:
Hemarthrosis
Hematoma
Hematuria
CNS
GI
Common:
Umbilical cord
Epistaxis
Menorrhagia
Hemarthrosis
Hematomas
Post trauma
Postoperative

Less common:
CNS
GI
Hematuria
Common:
Oral cavity
Postoperative
Menorrhagia
Common:
Umbilical cord
CNS
Ecchymosis
Subcutaneous hematoma
Oral cavity
After trauma
Menorrhagia
Miscarriages and intraperitoneal

Less common:
Wound healing
Hemarthrosis
Muscle hematomas
Epistaxis
GI
Postoperative
Common:
Intracranial (at birth)
Umbilical cord
Retroperitoneal soft tissue
Easy bruising
Mucocutaneous
Postoperative
Children may show skeletal abnormalities
Risk of thrombosisAfibrinogenemia: reportedIn inherited dysprothrombinemia due to g20210a mutation and linked to slightly increased levels of circulating prothrombin, there is a significantly higher risk to develop thromboembolic diseasesThrombotic episodes, particularly deep vein thrombosis post treatment reported (3-4% of patients) spontaneous thrombosis may occurCases of myocardial infarction and venous thrombosis reported (idiopathic or after fXI infusion)Although proteins S/C levels decreased, no reports of venous/arterial thrombosis
Dysfibrinogenemia: reported
  • CNS, central nervous system; GI, gastrointestinal.