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DOI: 10.1055/s-0039-1684453
Hereditary Hypodysfibrinogenemia with Defective Release of Fibrinogenopeptide A (Fibrinogen Freiburg)
Publication History
Publication Date:
18 April 2019 (online)
A new autoaomally inherited hypodysfibrinogenemia was recognized in four members in three different generations of a family. Only one patient had a major bleeding episode after trauma, the other affected members had no history of excessive bleeding or thromboembolic disease.
The thrombin time and Reptilase time of plasma were greatly prolonged and partially corrected by the addition of calcium. Patient plasma prolonged the thrombin time of normal plasma. Fibrinogen levels ranged between 10 to 20 mg/100ml when measured as thrombin-clottable protein, whereas immunologically the fibrinogen levels were only slightly reduced.
Functionally the major defect was impaired release of fibrinogenopeptide A upon incubation of the purified abnormal fibrinogen (94% clottable protein) with thrombin and Reptilase. The abnormal fibrinogen showed a delayed polymerisation of its purified fibrin monomers. The described abnormal fibrinogen was indistinguishable from normal fibrinogen by polyacrylamide gel electrophoresis with and without sodium dodecyl sulfate.