afibrinogenemia


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Related to afibrinogenemia: hypofibrinogenemia, dysfibrinogenemia

afibrinogenemia

 [a″fi-brin″o-jĕ-ne´me-ah]
absence or deficiency of fibrinogen in the circulating blood. Congenital afibrinogenemia (complete absence of fibrinogen) is a rare anomaly that is inherited. Acquired afibrinogenemia is actually a deficiency of fibrinogen (hypofibrinogenemia) and often is a serious complication in obstetrics, the primary cause being excessive maternal use of fibrinogen during an abnormal pregnancy. The condition may be seen in association with malignancies of the bone and prostate and with leukemia. It also may follow transfusion of incompatible blood and sometimes may complicate thoracic and abdominal surgery.
Symptoms. As would be expected in a deficiency of fibrinogen, which plays an important role in the blood clotting mechanism, the chief symptom is generalized bleeding, external or internal. In obstetric or surgical patients suffering from this condition there is frequently sudden and uncontrollable hemorrhage.
Treatment. Fibrinogen is administered intravenously to supply the body with this essential substance; transfusions of fresh frozen plasma or cryoprecipitate may also be indicated. In patients with cancer of the prostate the fibrinogen level often returns to normal after administration of estrogens. In obstetric patients the fibrinogen level returns to normal after the uterus has been emptied.

a·fi·brin·o·gen·e·mi·a

(ā-fī'brin-ō-jĕ-nē'mē-ă),
The absence of fibrinogen in the plasma.
See also: hypofibrinogenemia.

afibrinogenemia

/afi·brin·o·gen·emia/ (a″fi-brin″o-jĕ-ne´me-ah) deficiency or absence of fibrinogen (coagulation factor I) in the blood.
congenital afibrinogenemia  a rare autosomal recessive hemorrhagic coagulation disorder characterized by complete incoagulability of the blood.

afibrinogenemia

[afī′brinō′jenē′mē·ə]
Etymology: Gk, a, not; L, fibra, fiber; Gk, genein, to produce, haima, blood
Congenital absence of fibrinogen from the plasma associated with moderate to severe bleeding. Also spelled afibrinogenaemia.

afibrinogenemia

A rare autosomal recessive MIM 202400 condition characterised by completely incoagulable blood, which may be first identified by excess bleeding from the infant’s umbilical stump; other findings include bone and liver lesions, and spontaneous rupture of spleen. Postnatal fitness is essentially zero. Symptomatic carriers respond well to prophylactic or prn fibrinogen replacement therapy, either prophylactically or on demand. Consanguinity is a given and occurs in Jewish people, with uncle-niece pairings reported in Israel and permutations thereof in Iraqis and Moroccans.

Molecular pathology
Deletion mutation of FGA on chromosome 4q28.

afibrinogenemia

Hematology A rare AR condition characterized by complete incoagulability of blood, which may be first identified by excess bleeding from the umbilical stump; other findings include bone and liver lesions, and spontaneous rupture of spleen

a·fi·brin·o·gen·e·mia

(ā-fī'brin-ō-jĕ-nē'mē-ă)
The absence of fibrinogen in the plasma.
See also: hypofibrinogenemia
Synonym(s): afibrinogenaemia.

afibrinogenemia

absence or deficiency of fibrinogen in the circulating blood. The defect is inherited in goats, causing a severe hemorrhagic diathesis. See also hypofibrinogenemia, dysfibrinogenemia.
References in periodicals archive ?
a) Abnormalities of adhesion (platelet vessel wall interaction/adhesion) VWD Bernard Soulier syndrome (abnormal or absent GP Ib) Abnormalities of platelet aggregation Congenital afibrinogenemia Glanzmann thrombasthenia (abnormal GP Ilb/IIIa) Disorders of platelet release/signal transduction Storage pool disease Deficient dense bodies Hermansky-Pudlak syndrome Chediak-Higashi syndrome Wiskott-Aldrich syndrome Thrombocytopenia with absent radii Deficient [alpha] granules Gray platelet syndrome Deficiency of [alpha] granules and dense bodies Signal transduction defects Abnormal AA pathways Impaired AA release Cyclooxygenase deficiency Thromboxane synthetase deficiency Abnormalities of platelet membrane response Scott syndrome (a) From Rao (2).
RiaSTAP is a purified fibrinogen concentrate indicated for the treatment of acute bleeding episodes in patients with congenital fibrinogen deficiency, including afibrinogenemia and hypofibrinogenemia.
3] deficiency hereditary afibrinogenemia Storage pool disorders: dense granule deficiencies Hermansky-Pudlak syndrome Wiskott-Aldrich syndrome thrombocytopenia with absent radii syndrome Chediak-Higashi syndrome DISORDERS OF PLATELET SECRETION (RELEASE) Hereditary thromboxane pathway disorders: aspirin-like defects cyclooxygenase deficiency thromboxane synthase deficiency Drug inhibition of the prostaglandin pathways drug inhibition of platelet phosphodiesterase activity uremia