Fibrinogen Denver: a dysfibrinogenemia associated with an abnormal Reptilase time and significant bleeding.
This paper reports a new dysfibrinogenemia with an unusual pattern of laboratory assays. The patient, a 51-year-old female with a lifelong moderate bleeding history, was initially diagnosed with von Willebrand disease based on routine coagulation assays and the clinical bleeding presentation. During recent testing as part of a preoperative screen and without any current history of treatment, levels of von Willebrand factor (VWF) antigen, VWF activity, and factor VIII activity were all significantly elevated, which was unexpected given her previous diagnosis. Additional testing was performed looking for other heritable causes for her considerable bleeding tendency. Interestingly, the patient had a significantly prolonged Reptilase time, minimally short thrombin time, and an abnormal fibrinogen-crossed immunoelectrophoresis pattern. Clearly, this patient had a fibrinogen abnormality that had been missed when only routine coagulation screening assays were performed. A brief review of the fibrinogen literature revealed no other dysfibrinogenemias reported with a similar pattern of test results, and thus this defect was designated fibrinogen Denver.
Walter
S
S
Department of Pathology, University of Colorado Health Sciences Center, CO 80045, USA.
Stabler
S
S
Lefkowitz
J B
JB
D000347:Afibrinogenemia / Q000097:blood / Q000150:complications / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005260:Female; D015241:Fibrinogens, Abnormal / Q000032:analysis*; D006470:Hemorrhage / Q000209:etiology*; D006801:Humans; D008875:Middle Aged; D013918:Thrombin Time; D014842:von Willebrand Diseases / Q000175:diagnosis; D014841:von Willebrand Factor / Q000032:analysis
D015241:Fibrinogens, Abnormal; D014841:von Willebrand Factor