title: Fibrinogen Longmont: a dysfibrinogenemia that causes prolonged clot-based test results only when using an optical detection method.
abstract: A new fibrinogen variant was discovered as a result of discrepancies found in routine laboratory screening. The patient, a healthy 37-year-old woman, had a mild bleeding history. Initial coagulation studies on the patient revealed a prolonged prothrombin time (PT) and a normal activated partial thromboplastin time (APTT). Further investigation on the patient and her mother demonstrated both had a PT with no end point using an optical detection method (ACL3000+) and a normal PT using an electromechanical detection method (ST4 Clot Detection System). The APTT for both the patient and her mother were essentially normal with both optical and mechanical detection methods. The patient and her mother also had markedly prolonged thrombin time and reptilase time results on the ACL3000+, but they were normal on the ST4. Coagulation test results on the patient's father were all normal. We believe the fibrinogen defect in this family may affect fibrin polymerization only enough to effect light scatter interpretation, while there is enough polymerization to increase plasma viscosity and yield an end point using an electromechanical analyzer. This report should alert pathologists and clinicians to possible discrepancies between mechanical and spectrophotometric clot testing methods.
authors.affiliation: Department of Pathology, University of Colorado School of Medicine, Denver, Colorado, USA. Jerry.Lefkowitz@UCHSC.edu
authors.forename: J B
authors.initials: JB
authors.lastname: Lefkowitz
authors.forename: T
authors.initials: T
authors.lastname: DeBoom
authors.forename: A
authors.initials: A
authors.lastname: Weller
authors.forename: S
authors.initials: S
authors.lastname: Clarke
authors.forename: D
authors.initials: D
authors.lastname: Lavrinets
mesh_terms: D000328:Adult; D012103:Batroxobin / Q000097:blood; D001778:Blood Coagulation Disorders / Q000097:blood* / Q000235:genetics*; D001779:Blood Coagulation Factors / Q000378:metabolism; D015153:Blotting, Western; D005260:Female; D005340:Fibrinogen / Q000378:metabolism*; D006801:Humans; D007122:Immunoelectrophoresis; D055095:Optics and Photonics; D010314:Partial Thromboplastin Time; D013053:Spectrophotometry
chemical_list: D001779:Blood Coagulation Factors; D005340:Fibrinogen; D012103:Batroxobin