1/4. Congenital afibrinogenaemia.A case of congenital afibrinogenaemia in a young female child is described. She had haemorrhagic tendency since birth in the form of markedly prolonged umbilical bleeding and easy bruising afterwards. Two of her brothers had bleeding tendencies, one died shortly after birth due to uncontrollable umbilical bleeding and other died at the age of 12 years from internal haemorrhage. The family study indicates the mode of inheritance to be probably autosomal recessive. The principal laboratory findings are complete non-coagulability of blood, grossly abnormal coagulation tests, zero ESR value, failure to detect fibrinogen by heat coagulation or chemical precipitation tests and biuret reaction and correction of thrombin time after fibrinogen infusion.- - - - - - - - - - ranking = 1keywords = haemorrhage (Clic here for more details about this article) |
2/4. fibrinogen Barcelona I. Congenital dysfibrinogenemia characterized by defective release of fibrinopeptide a and fibrinogen degradation products.A congenital dysfibrinogenemia, fibrinogen Barcelona I, was detected in a 28 year-old woman with no prior history of bleeding. The thrombin induced clotting of plasma and purified fibrinogen was much prolonged. Fibrin monomer aggregation was impaired. The abnormal fibrinogen polymerized in the presence of calcium and can be further cross-linked by factor xiiia. The turbidity of fibrin gels obtained from fibrinogen Barcelona was much lower than normal fibrinogen. The kinetic constant Km for fibrinogen Barcelona plus normal fibrinogen gelation was similar to normal fibrinogen gelation. The release rate of fibrinopeptide a by thrombin was slower than that of normal fibrinogen. However, two mol of fibrinopeptide a was released per mol of fibrinogen in 30 min. SDS-PAGE of abnormal and normal fibrinogens and of reduced fibrinogens showed identical patterns. Sialic acid content was markedly decreased in fibrinogen Barcelona. Plasmin digestion of two fibrinogens showed identical patterns in SDS-PAGE as regards X fragment formation. The kinetics of fibrinogen degradation showed a decrease in the formation rate of D and E fragments. The fact that the patient was in threat of abortion and developing a haemorrhagic syndrome may indicate that the defect in the fibrinogen was important in the pathogenesis of haemorrhage in this patient.- - - - - - - - - - ranking = 1keywords = haemorrhage (Clic here for more details about this article) |
3/4. Haemorrhagic diathesis as a possible early sign of hereditary fructose intolerance.An infant girl three weeks of age with the leading symptom of skin haemorrhages is presented. On further investigation, the signs of severe hepatic damage with hypofibrinogenaemia and prothrombin complex impairment, and renal tubular dysfunction were disclosed. All these pathological symptoms, which were reversed on fructose free diet, were caused by hereditary fructose intolerance.- - - - - - - - - - ranking = 1keywords = haemorrhage (Clic here for more details about this article) |
4/4. Cutaneous manifestations of congenital afibrinogenaemia.skin problems from coagulation disorders have rarely been described in the dermatological literature. Here we report a patient with a complete congenital absence of fibrinogen which led to leg ulceration, necrosis of the toes and a life-threatening haemorrhage following skin biopsy. This patient shows that leg ulcers may have a complex aetiology and can reflect serious underlying disease.- - - - - - - - - - ranking = 1keywords = haemorrhage (Clic here for more details about this article) |