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PubMedDate not supplied

Congenital dysfibrinogenemias. A review.

Inherited qualitative abnormalities of fibrinogen have been documented in 144 families. These dysfibrinogenemias have been inherited as autosomal dominant traits and usually are clinically silent, but in some cases are associated with bleeding, thrombosis, or defective wound healing. Dysfibrinogenemias may be associated with defects in any of the three basic steps in the thrombin-fibrinogen reaction, i.e., cleavage of the fibrinopeptides by thrombin, polymerization, and fibrin cross-linking. Biochemical studies of several abnormal fibrinogens have demonstrated that the functional defects are the result of single amino acid substitutions. Most of the reported cases may be distinguished by functional criteria and by the physicochemical behavior and biochemical nature of the abnormal protein.

Afibrinogenemia↗
PubMedDate not supplied

Constitutional hypofibrinogenemia associated with third trimester hemorrhage.

This case of a 31-year-old white woman presenting at 32 weeks gestation with vaginal bleeding supports a possible association between constitutional hypofibrinogenemia and third trimester hemorrhage. Clot based fibrinogen assays were persistently low for the third trimester (patient: 102 to 155 mg per dl; normal range: 400 to 650 mg per dl) and at follow-up, ten months post-partum (patient: 90 mg per dl; normal range 180 to 436 mg per dl); an immunologic fibrinogen level was comparable. The patient gave an unremarkable bleeding history. Of 11 previously reported pregnancies in five hypofibrinogenemic patients, six terminated in placental abruption during the third trimester, two others were complicated by significant post-partum hemorrhage, and one by spontaneous abortion. This case report emphasizes that low functional levels of fibrinogen are potentially disruptive to the integrity of the uteroplacental interface. The pregnant state unmasks and amplifies an otherwise silent to mild hemostatic disorder.

Adult↗
PubMedDate not supplied

[A case of dysfibrinogenemia complicated by hemorrhage and thrombosis].

There are, as well as the more common coagulopathies such as deficiency in antithrombin III or Protein C, certain rare disorders complicated simultaneously by haemorrhage and thrombosis--such as dysfibrinogenemia--which can present very special therapeutic problems.

Afibrinogenemia↗