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

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.
References in periodicals archive ?
Caen, "Dysfibrinogenemia (fibrinogen Dusard) associated with impaired fibrin-enhanced plasminogen activation," Thrombosis and Haemostasis, vol.
Acquired dysfibrinogenemia, however, may also contribute to bleeding tendency in liver disease and may be under-diagnosed if laboratory protocols are not in place for investigation of prolonged coagulation-screening assays.
A normal reptilase time despite PTT >180 seconds (Table 1) eliminated dysfibrinogenemia as the cause of the coagulopathy and indicated the presence of heparin.[sup.11] Serum fibrinogen was normal, indicating that his liver was producing normal amounts of fibrinogen.
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. However, the lifetime probability of developing thrombosis and the severity of the thromboses seem to be considerably less in heterozygotes with the factor V Leiden mutation than in patients with the less common inherited thrombophilias (3).
(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.
Patients with a history of afibrinogenemia, dysfibrinogenemia, or hypofibrinogenemia were excluded from this study.
Other inherited thrombophilic disorders include heparin cofactor II deficiency, plasminogen deficiency, dysfibrinogenemia, factor XII deficiency, and increased factor VIII coagulant activity.
Predisposing Risk Factors for Venous Thromboembolism[1,6,25] Primary Risk Factors Antithrombin III deficiency Deficit of Factor XII Dysfibrinogenemia Plasminogen disorders Protein C and S deficiency Secondary Risk Factors Age over 40 years Cerebrovascular disease or congestive heart failure Immobilization (confinement in bed, postoperative state) Inflammatory bowel disease Leg edema, ulcers, varicose veins, venous stasis Long bone or pelvic fracture Lupus anticoagulant Malignancy Nephrotic syndrome Obesity Polycythemia rubra vera Pregnancy Prior thromboebolism Sepsis
Chiles et al., "High prevalence of dysfibrinogenemia among patients with chronic thromboembolic pulmonary hypertension," Blood, vol.