11,12) For example, PT-based assays can overestimate fibrinogen results in patients with and without dysfibrinogenemia
, (13,14) and can disagree with Clauss-based assays in patients with low fibrinogen.
A 49-year-old African-American female with history of hepatitis C and hypertension was investigated for a possible dysfibrinogenemia
when an abnormal thrombin time (TT) and reptilase time (RT) were reported by the laboratory.
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
Coagulation tests including for lupus antico-agulant, dysfibrinogenemia
, resistance to activated protein C, deficiencies of protein S, C or antithrom-bin, and mutations of factor V were all detected as normal.
These assays are recommended for detecting hypofibrinogenemia or dysfibrinogenemia
and for evaluating the risk of bleeding (9).
Severe end-stage bleeding reflects markedly decreased coagulation factor production, excessive fibrinolysis, dysfibrinogenemia
, thrombocytopenia, and occasionally DIC.
It is affected by abnormal fibrinogen, dysfibrinogenemia
and the presence of circulating anticoagulants including heparin and FDPs.
Defects Responsible for Hypercoagulability Inherited Activated protein C resistance (factor V Leiden) Protein S deficiency Protein C deficiency Antithrombin deficiency Hyperhomocysteinemia Prothrombin 20210A allele Dysplasminogenemia High plasminogen activator inhibitor Dysfibrinogenemia
Elevated factor VIII Acquired Antiphospholipid syndrome Hyperhomocysteinemia Miscellaneous Thrombocythemia Dysproteinemia Heparin-induced thrombocytopenia Estrogens Birth control pills Hormone replacement therapy Noncoagulant factors Malignancy Pregnancy Bed rest Surgery Trauma Miscellaneous TABLE 2 Frequency of Inherited Defects and Hypercoagulability (*) Gene Cause of Disorder Frequency Hypercoagulability APC resistance 3.
RiaSTAP is not indicated to treat dysfibrinogenemia
During our investigations of the molecular basis of dysfibrinogenemia
and hypofibrinogenemia, we noted an additional B[beta] peak at -130 Da in a control sample from a patient with pancreatitis.
This article reviews the clinical features, pathophysiology, and laboratory testing of inherited and acquired dysfibrinogenemia
Independent of the cause, dysfibrinogenemia
is diagnosed by determination of the plasma concentration of fibrinogen and a functional test such as thrombin or reptilase time.