Methods diagnostics and treatment of thrombogenic/bleeding dysfibrinogenemias?

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  Viviane Virtaci · „Vasile Goldis” Western University of Arad

  The prevalence of hereditary thrombophilias in patients diagnosed with their first DVT is (factor V Leiden is 20%,prothrombin mutation 6%,protein C deficiency 3%,protein S deficiency 1-2%,antithrombin deficiency 1%) Genetic mutation in the factor V gene causes change in the factor V protein making it resistant to inactivation by protein C. the result is that factor V Leiden is inactivated by activated protein C at a much slower rate , thus leading to a thrombophilic state by having increased activity of factor V in the blood. Most acquired dysfibrinogenemia are found in the setting of hepatocellular disease,including:*cirrhosis,obstructive jaundice,acute liver failure,and hepatoma. The mechanism of acquired dysfibrinogenemia associated with liver disease involves impaired fibrin monomer polymerization . Dysfibrinogenemia in the setting of liver disease not associated with thrombosis.However thrombophilia associated with acquired dysfibrinogenemia without evidence of liver disease has been reported THROMBIN CLOTTING TIME: It is the primary test for dysfibrinogenemia. REPTILASE TIME: the reptilase time is an alternative screening test. Prothrombin time and partial thromboplastin time had sensitivities of 96% and 65% respectively, in detecting dysfibrinogenemia .However , despite their low cost and wide availability, their lack of specificity make them poor screening tests. CONFIRMATORY TESTING: Fibrinogen concentration measured both functionally and antigenically, then expressed as a fibrinogen activity-antigen ratio,can be used as a confirmatory test if the screening test is positive. TESTING FOR INHERITED VERSUS AQUIRED: After the presence of dysfibrinogenemia has been established,whether the abnormality is inherited or acquired must be determined. If the liver function tests are normal and acquired dysfibrinogenemia secondary to renal cell carcinoma ,bone marrow transplant,or treatment with mithramycin or L-asparaginase has been excluded,then dysfibrinogenemia is likely inherited. The most useful way to prove that an abnormality is hereditary is to demonstrate the presence of the defect in another family member. Other options include fibrinogen electrophoresis and molecular genetic analysis of the fibrinogen genes. The majority of patients with dysfibrinogenemia do not required any specific treatment. Bleeding complications can be managed with transfusion of either plasma or cryoprecipitate. Patients with repeated venous thrombotic episodes may require long term antithrombotic therapy. Treatment-warfarin for inherited dysfibrinogenemia Treatment of thrombophilic dysfibrinogenemias should be assessed on a case -by-case basis because the expression of the disease can modulated by many coexisting factors. http://www.archivesofpathology.org/doi/pdf/10.1043/0003-9985%282002%29126%3C0499%3ALDOD%3E2.0.CO%3B2

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  The prevalence of hereditary thrombophilias in patients diagnosed with their first DVT is (factor V Leiden is 20%,prothrombin mutation 6%,protein C deficiency 3%,protein S deficiency 1-2%,antithrombin deficiency 1%)
  Genetic mutation in the factor V gene causes change in the factor V protein making it resistant to inactivation by protein C.
  the result is that factor V Leiden is inactivated by activated protein C at a much slower rate , thus leading to a thrombophilic state by having increased activity of factor V in the blood.
  Most acquired dysfibrinogenemia are found in the setting of hepatocellular disease,including:*cirrhosis,obstructive jaundice,acute liver failure,and hepatoma.
  The mechanism of acquired dysfibrinogenemia associated with liver disease involves impaired fibrin monomer polymerization .
  Dysfibrinogenemia in the setting of liver disease not associated with thrombosis.However thrombophilia associated with acquired dysfibrinogenemia without evidence of liver disease has been reported
  THROMBIN CLOTTING TIME: It is the primary test for dysfibrinogenemia.
  REPTILASE TIME: the reptilase time is an alternative screening test.
  Prothrombin time and partial thromboplastin time had sensitivities of 96% and 65% respectively, in detecting dysfibrinogenemia .However , despite their low cost and wide availability, their lack of specificity make them poor screening tests.
  CONFIRMATORY TESTING: Fibrinogen concentration measured both functionally and antigenically, then expressed as a fibrinogen activity-antigen ratio,can be used as a confirmatory test if the screening test is positive.
  TESTING FOR INHERITED VERSUS AQUIRED: After the presence of dysfibrinogenemia has been established,whether the abnormality is inherited or acquired must be determined.
  If the liver function tests are normal and acquired dysfibrinogenemia secondary to renal cell carcinoma ,bone marrow transplant,or treatment with mithramycin or L-asparaginase has been excluded,then dysfibrinogenemia is likely inherited.
  The most useful way to prove that an abnormality is hereditary is to demonstrate the presence of the defect in another family member.
  Other options include fibrinogen electrophoresis and molecular genetic analysis of the fibrinogen genes.
  The majority of patients with dysfibrinogenemia do not required any specific treatment.
  Bleeding complications can be managed with transfusion of either plasma or cryoprecipitate.
  Patients with repeated venous thrombotic episodes may require long term antithrombotic therapy.
  Treatment-warfarin for inherited dysfibrinogenemia
  Treatment of thrombophilic dysfibrinogenemias should be assessed on a case -by-case basis because the expression of the disease can modulated by many coexisting factors.
  http://www.archivesofpathology.org/doi/pdf/10.1043/0003-9985%282002%29126%3C0499%3ALDOD%3E2.0.CO%3B2

  Dec 6, 2011