dysfibrinogenemia


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dys·fi·brin·o·ge·ne·mi·a

(dis'fī-brin'ō-jĕ-nē'mē-ă), [MIM*134820]
An autosomal dominant disorder of qualitatively abnormal fibrinogens of various types; each type is named for the city in which the abnormal fibrinogen was discovered. Examples include: 1) Amsterdam, Bethesda II, Cleveland, Los Angeles, Saint Louis, Zurich I and II: major defect, aggregation of fibrin monomers; thrombin time prolonged; inhibitory effect on normal clotting; asymptomatic; 2) Bethesda I and Detroit: major defect, fibrinopeptide release; thrombin time prolonged; inhibitory effect on normal clotting; abnormal bleeding; 3) Baltimore: major defect, fibrinopeptide release; thrombin time prolonged; no inhibitory effect on normal clotting; bleeding and thrombosis; 4) Leuven: major defect, questionable aggregation of fibrin monomers; thrombin time prolonged; slight inhibitory effect on normal clotting; abnormal bleeding; 5) Metz: major defect unreported; thrombin time infinite; effect on normal clotting unreported; abnormal bleeding; 6) Nancy: major defect, aggregation of fibrin monomers; thrombin time prolonged; slight inhibitory effect on normal clotting; asymptomatic; 7) Oklahoma: major defect unreported; thrombin time normal; no effect on normal clotting; abnormal bleeding; 8) Oslo: major defect unreported; thrombin time shortened; effect on normal clotting unreported; abnormal thrombosis; 9) Parma: major defect unreported; thrombin time infinite; no inhibitory effect on normal clotting; abnormal bleeding; 10) Paris I: major defect unreported; thrombin time infinite; inhibitory effect on normal clotting; asymptomatic; 11) Paris II: major defect unreported; thrombin time prolonged; inhibitory effect on normal clotting; asymptomatic; 12) Troyes: major defect unreported; thrombin time prolonged; effect on normal clotting unreported; asymptomatic; 13) Vancouver: major defect unreported; thrombin time prolonged; no effect on normal clotting; abnormal bleeding; 14) Wiesbaden: major defect, aggregation of fibrin monomers; thrombin time prolonged; inhibitory effect on normal clotting; bleeding and thrombosis.

dysfibrinogenemia

/dys·fi·brin·o·ge·ne·mia/ (dis-fi-brin″o-jĕ-ne´me-ah) the presence in the blood of abnormal fibrinogen.

dysfibrinogenemia

A group of qualitative, usually AD, fibrinogen defects ranging in severity from innocuous to hemorrhagic diathesis; most are asymptomatic and detected by presurgical screens, given the abnormalities in coagulation parameters; these subjects suffer frequent spontaneous abortion, bleeding, poor wound healing, and thrombosis Lab Normal fibrinogen and clotting times; ↑ PT, ↑ thrombin time, ↑ reptilase time. See Fibrinogen.

dys·fi·brin·o·ge·ne·mi·a

(dis'fī-brin'ō-jĕ-nē'mē-ă)
An autosomal dominant disorder of qualitatively abnormal fibrinogens of various types, resulting in abnormalities of coagulation tests (bleeding time, clotting time, thrombin time); symptoms vary from none to abnormal bleeding and excessive clotting.
Synonym(s): dysfibrinogenaemia.

dysfibrinogenemia

the presence of abnormal fibrinogens in the body. An inherited dysfibrinogenemia occurs in humans and has been reported in a collie dog.
References in periodicals archive ?
These protein deficiencies/abnormalities are genetic and include entities such as antithrombin deficiency, protein C deficiency, protein S deficiency, Factor V Leiden mutation, prothrombin 20210, and dysfibrinogenemia, among others.
The differential diagnosis includes dysfibrinogenemia, prothrombin deficiency, factor V deficiency, combined deficiency of factors V and VIII (F5F8D), factor X deficiency, and hereditary combined deficiency of the vitamin K-dependent clotting factors.
Acquired deficiency is most common and causes include disseminated intravascular coagulation, (4) liver disease, (5) hemodilution, (6) and acquired dysfibrinogenemia.
This case report of a woman presenting with bleeding illustrates that laboratory tests can make a diagnosis of acquired dysfibrinogenemia when unsuspected clinically.
A normal reptilase time despite PTT >180 seconds (Table 1) eliminated dysfibrinogenemia as the cause of the coagulopathy and indicated the presence of heparin.
Other less common causes of inherited thrombophilia are the antithrombin III, protein C and S deficiencies, and rare conditions such as plasminogen and heparin cofactor-II deficiencies and dysfibrinogenemia.
8,9) Other risk factors reported to be common to both arterial and venous thrombosis include the presence of antiphospholipid antibodies, dysfibrinogenemia, hyperhomocysteinemia, and elevated levels of fibrinogen, lipoprotein (a) and factor VIII.
Other etiologies include alpha 2-antiplasmin deficiency, platelet factor 3 deficiency, dysfibrinogenemia, and factor XIII deficiency.
Drugs (see Table 4) Wiskott-Aldrich syndrome, May-Hegglin anomaly Systemic illness (liver disease, myeloproliferative disorder, infection) Platelet dysfunction Drugs Myeloproliferative disorder Von Willebrand disease Thrombocytopenia Absent Radius (TAR) syndrome Bernard-Soulier Glanzmann thrombasthenia Storage disease Renal disease Coagulation protein disorders Hemophilia (factor VIII, IX, XI deficiency) Von Willebrand disease Dysfibrinogenemia Factor XIII Plasmin or plasminogen deficiency or inhibitor Circulating anticoagulant or inhibitor Vitamin K deficiency, warfarin therapy Systemic illnesses (liver disease, amyloidosis) Table 2.
Patients with a history of afibrinogenemia, dysfibrinogenemia, or hypofibrinogenemia were excluded from this study.