Dysfibrinogenemia

The dysfibrinogenemias are a group of autosomal dominant disorders of qualitatively abnormal fibrinogens.^[1] There are more than 350 different fibrinogen abnormalities, each named after the place where it was discovered.^[2] Each dysfibrinogenemia is associated with slightly different effects on the thrombin time and on normal clotting. Some dysfibrinogenemias cause abnormal bleeding or even thrombosis, while others have no effect on either bleeding or thrombosis.^[3]

Examples

Amsterdam is a major defect, characterized by aggregation of fibrin monomers, prolonged thrombin time, and an inhibitory effect on normal clotting - but it is asymptomatic.
Detroit is a major defect, there is fibrinopeptide release, the thrombin time is prolonged, there is an inhibitory effect on normal clotting and there is abnormal bleeding.
Wiesbaden is a major defect, there is aggregation of fibrin monomers, the thrombin time is prolonged, there is an inhibitory effect on normal clotting and there is both bleeding and thrombosis.

References

↑ Dysfibrinogenemia at eMedicine
↑ McDonagh, J (2001). "Dysfibrinogenemia and other disorders of fibrinogen structure or function". In Colman R, Hirsh J, Marder V, Clowes A, George J. Hemostasis and Thrombosis (4th ed.). Philadelphia: Lippincott Williams & Wilkins. pp. 855–92. ISBN 978-0-7817-1455-6.
↑ Hayes, T (2002). "Dysfibrinogenemia and thrombosis". Archives of Pathology & Laboratory Medicine. 126 (11): 1387–90. doi:10.1043/0003-9985(2002)126<1387:DAT>2.0.CO;2 (inactive 2016-10-16). PMID 12421146.

Diseases of clotting (D50–69,74, 280–287)

Coagulation/
coagulopathy

↑

Hyper- coagulability	primary: Antithrombin III deficiency Protein C deficiency/Activated protein C resistance/Protein S deficiency/Factor V Leiden Prothrombin G20210A Sticky platelet syndrome acquired:Thrombocytosis essential DIC Purpura fulminans autoimmune Antiphospholipid

↓

Hypo-
coagulability

Thrombocytopenia	Thrombocytopenic purpura: ITP Evans syndrome TM TTP Upshaw Schulman syndrome Heparin-induced thrombocytopenia May–Hegglin anomaly

Platelet function	adhesion Bernard–Soulier syndrome aggregation Glanzmann's thrombasthenia platelet storage pool deficiency Hermansky–Pudlak syndrome Gray platelet syndrome

Clotting factor	Hemophilia A/VIII B/IX C/XI von Willebrand disease Hypoprothrombinemia/II XIII Dysfibrinogenemia Congenital afibrinogenemia

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