Dysfibrinogenemia

Dysfibrinogenemia
Classification and external resources
ICD-10	D68.2
OMIM	616004
Orphanet	98881

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. PMID 12421146. doi:10.1043/0003-9985(2002)126<1387:DAT>2.0.CO;2 (inactive 2017-01-31).

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 Factor VII deficiency Factor X deficiency Factor XII deficiency Factor XIII deficiency Dysfibrinogenemia Congenital afibrinogenemia

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