KEYWORDS:
Dysfibrinogenemia, Fibrinogen replacement treatment, Mutation, Pulmonary embolism.
That job ended when she was diagnosed with a rare coagulation disorder called
dysfibrinogenemia, which meant she couldn't do the travelling involved in the job.
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.
Presence of heparin, intrinsic pathway factor deficiencies, factor inhibitors, and
dysfibrinogenemia was ruled out.
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