As a result of the revision and discussion of the RHD-DGs during the Board of the Network meeting (13-14 November 2019, Barcelona), a total of 70 RHD-DG has been identified. The Rare bleeding-coagulation disorders and related diseases subnetwork includes 9 disease groups encompassing 70 disorders
RHD-DGs and disorders included are currently under revision for final approval.
Disease Group | Disorders included |
---|---|
Hemophilia A | Severe hemophilia A |
Moderately severe hemophilia A | |
Mild hemophilia A | |
Symptomatic form of hemophilia A in female carriers | |
Acquired hemophilia | |
Hemophilia B | Severe hemophilia B |
Moderately severe hemophilia B | |
Mild hemophilia B | |
Symptomatic form of hemophilia B in female carriers | |
Acquired hemophilia | |
Von Willebrand disease | Von Willebrand disease type 1 |
Von Willebrand disease type 2 | |
Von Willebrand disease type 2A | |
Von Willebrand disease type 2B | |
Von Willebrand disease type 2M | |
Von Willebrand disease type 2N | |
Von Willebrand disease type 3 | |
Acquired von Willebrand syndrome | |
Rare hemorrhagic disease due to constitutional coagulation factors defects (Other than Hemophilia and Von Willebrand disease) | Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome |
Congenital factor V deficiency | |
Congenital fibrinogen deficiency | |
Congenital alpha2-antiplasmin deficiency | |
Congenital factor XIII deficiency | |
Congenital factor XI deficiency | |
Congenital plasminogen activator inhibitor type 1 deficiency | |
Congenital high-molecular-weight kininogen deficiency | |
Congenital prekallikrein deficiency | |
Combined deficiency of factor V and factor VIII | |
Congenital vitamin K-dependent coagulation factors deficiency | |
Congenital factor VII deficiency | |
Congenital factor II deficiency | |
Congenital factor X deficiency | |
Hereditary combined deficiency of vitamin K-dependent clotting factors | |
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation | |
East Texas bleeding disorder | |
Thrombomodulin-related bleeding disorder | |
Acquired prothrombin deficiency | |
Rare hemorrhagic disorder due to a constitutional platelet anomaly | Rare hemorrhagic disorder due to a constitutional thrombocytopenia |
Syndromic constitutional thrombocytopenia | |
Dense granule disease | |
Isolated constitutional thrombocytopenia | |
Isolated hereditary giant platelet disorder | |
Rare hemorrhagic disorder due to a qualitative platelet defect | |
Rare hemorrhagic disorder due to an acquired platelet anomaly | Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome |
TAFRO syndrome | |
HELLP syndrome | |
Fetal and neonatal alloimmune thrombocytopenia | |
Autoimmune thrombocytopenia | |
Kasabach-Merritt syndrome | |
Rare thrombotic disorder due to a coagulation factors defect | Gaisböck syndrome |
Rare thrombotic disorder due to a constitutional coagulation factors defect | |
Congenital factor XII deficiency | |
Familial thrombomodulin anomalies | |
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency | |
Rare hereditary thrombophilia | |
Hereditary thrombophilia due to congenital protein S deficiency | |
Hereditary thrombophilia due to congenital protein C deficiency | |
Hereditary thrombophilia due to congenital antithrombin deficiency | |
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | |
Rare thrombotic disorder due to an acquired coagulation factors defect | |
Catastrophic antiphospholipid syndrome | |
Heparin-induced thrombocytopenia | |
Protein S acquired deficiency | |
Acquired purpura fulminans | |
Simple cryoglobulinemia | |
Rare thrombotic disorder due to quantitative platelet anomaly (Low) | Congenital thrombotic thrombocytopenic purpura |
Acquired thrombotic thrombocytopenic purpura | |
Rare thrombotic disorder due to quantitative platelet anomaly (High) | Essential thrombocythemia |
Familial thrombocytosis | |
Hereditary thrombocytosis with transverse limb defect |