Clinical symptoms in severe RBDs
| RBD . | Afibrinogenemia; hypo- and dysfibrinogenemia . | Prothrombin deficiency . | FV deficiency . | Combined FV and FVIII deficiency . | FVII deficiency . | FX deficiency . | FXI deficiency . | FXIII deficiency . | Vitamin K-dependent factors deficiency . |
|---|---|---|---|---|---|---|---|---|---|
| Main bleeding symptoms for severe deficiencies | AFIBRINOGENEMIA: 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 thrombosis | Afibrinogenemia: reported | In inherited dysprothrombinemia due to g20210a mutation and linked to slightly increased levels of circulating prothrombin, there is a significantly higher risk to develop thromboembolic diseases | — | — | Thrombotic episodes, particularly deep vein thrombosis post treatment reported (3-4% of patients) spontaneous thrombosis may occur | — | Cases 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 |
| RBD . | Afibrinogenemia; hypo- and dysfibrinogenemia . | Prothrombin deficiency . | FV deficiency . | Combined FV and FVIII deficiency . | FVII deficiency . | FX deficiency . | FXI deficiency . | FXIII deficiency . | Vitamin K-dependent factors deficiency . |
|---|---|---|---|---|---|---|---|---|---|
| Main bleeding symptoms for severe deficiencies | AFIBRINOGENEMIA: 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 thrombosis | Afibrinogenemia: reported | In inherited dysprothrombinemia due to g20210a mutation and linked to slightly increased levels of circulating prothrombin, there is a significantly higher risk to develop thromboembolic diseases | — | — | Thrombotic episodes, particularly deep vein thrombosis post treatment reported (3-4% of patients) spontaneous thrombosis may occur | — | Cases 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.