Is dysfibrinogenemia a genetic disorder?
Congenital dysfibrinogenemia is an inherited disorder in which one of the parental genes produces an abnormal fibrinogen. This fibrinogen interferes with normal blood clotting and/or lysis of blood clots. The condition therefore may cause pathological bleeding and/or thrombosis.
What is dysfibrinogenemia?
Dysfibrinogenemia is a coagulation (clotting) disorder characterized by having an abnormal form of fibrinogen.[11855] Fibrinogen is a protein produced by the liver which helps control bleeding by helping blood clots to form.[11856] Having abnormal fibrinogen results in defective clot formation and can cause an …
Is Hypofibrinogenemia inherited?
Disorders with decreased fibrinogen levels, either hypofibrinogenemia or afibrinogenemia, are relatively rare conditions inherited as autosomal recessive traits.
How do you test for dysfibrinogenemia?
Traditionally, dysfibrinogenemia is diagnosed by abnormal tests of fibrin clot formation; the thrombin time and reptilase time are the screening tests, and the fibrinogen clotting activity-antigen ratio is the confirmatory test.
What causes dysfibrinogenemia?
Chronic liver disease is the most common cause; up to 50% of patients with severe liver disease secondary to cirrhosis, hepatoma, or hepatitis exhibit bleeding complications. Other causes of acquired dysfibrinogenemia include chronic malignancies and autoimmune diseases.
How common is dysfibrinogenemia?
Statistics. Congenital dysfibrinogenemia is considered rare, but the true incidence is unknown since many forms don’t cause signs or symptoms. In the literature, only 200-300 families have been reported.
How is congenital dysfibrinogenemia treated?
Fibrinogen replacement therapy may prevent pregnancy complications. Venous thromboembolism secondary to congenital dysfibrinogenemia should be treated with low-molecular-weight heparin. Patients with recurrent thrombotic events may require long-term anticoagulation with warfarin or subcutaneous heparin.
What are the causes of hypofibrinogenemia?
Table 1
| Condition | Cause | Examples |
|---|---|---|
| Acquired hypofibrinogenemia | Reduced synthesis | Liver disease |
| Increased consumption | tPA therapy, cancer, sepsis with DIC | |
| Hemodilution | Massive transfusion | |
| Acquired dysfibrinogenemia | Assay interference | Direct thrombin inhibitors (Dabigatran, Bivalirudin, Argatroban), other thrombin inhibitors (Heparin) |
Why ESR is low in hypofibrinogenemia?
Fibrinogen assay by clotting and immunologic methods (show no detectable/trace fibrinogen [afibrinogenemia] or decreased fibrinogen [20-80 mg/dL, hypofibrinogenemia]). The erythrocyte sedimentation rate (ESR; very slow, because fibrinogen is one of the main determinants of this rate).
What causes hypofibrinogenemia in pregnancy?
Hypofibrinogenemia is known to occur superimposed upon two complications of pregnancy. The first and most widely recognized complication is abruptio placentae. The second is prolonged retention of a dead fetus in an Rh-isosensitized mother.
Is afibrinogenemia hereditary?
Congenital afibrinogenemia is a hereditary fibrinogen abnormality, a rare category of bleeding disorder that can affect the quantity or quality of fibrinogen, a blood coagulation factor.
Why does polycythemia decrease ESR?
A decreased ESR is associated with a number of blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling. In patients with polycythemia, too many red blood cells decrease the compactness of the rouleaux network and artifactually lower the ESR.
Having abnormal fibrinogen results in defective clot formation and can cause an increased or decreased ability to clot. Dysfibrinogenemias may be inherited ( congenital) or acquired. Congenital dysfibrinogenemia is rare. About 40% of people with this form have no symptoms.
Is dysfibrinogenemia dominant or recessive?
In most cases, congenital dysfibrinogenemia is inherited as an autosomal dominant trait with high levels of penetrance, but some patients exhibit an autosomal recessive inheritance pattern. Patients may be homozygous or heterozygous for the defect.
What is the prevalence of dysfibrinogenemia in the US?
It is associated with mutations throughout the three genes FGB, FGA, and FGG coding for the fibrinogen subunits (Bβ, Aα, and γ). The prevalence of dysfibrinogenemia in patients with venous thrombosis is approximately 0.8%. Most patients are asymptomatic (55%); however, it can cause bleeding (25%), venous or arterial thrombosis (20%), or both.
What is abnormal fibrinogen molecules?
Abnormal fibrinogen molecules (dysfibrinogenemia) are found in some cases of patients presenting with venous thrombosis.55 Dysfibrinogenemia is caused by many different mutations in all the three different fibrinogen polypeptides, Aα, Bβ and γ.