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Dysfibrinogenemia in Pregnancy: A Case Series Highlighting Diagnostic Challenges and Multidisciplinary Management
Supreet Mahurkar1, Ejike Nnamani1, Sarah Lewis2
1Obstetrics and Gynaecology, Aneurin Bevan University Health Board, Gwent, GBR.
None:
Dysfibrinogenemia is a rare qualitative fibrinogen disorder associated with both bleeding and thrombotic risks, presenting unique diagnostic and management challenges in pregnancy. Physiological increases in fibrinogen during pregnancy may obscure underlying abnormalities, and reliance on functional assays alone can result in misinterpretation and inappropriate management. We present a case series of three pregnant patients in whom dysfibrinogenemia was either incidentally identified during antenatal care or recognised through prior family screening. All cases demonstrated persistently low functional fibrinogen levels measured using the Clauss method, with normal antigenic fibrinogen levels on enzyme-linked immunosorbent assay (ELISA), consistent with qualitative fibrinogen defects. Rotational thromboelastometry (ROTEM) was used to aid real‑time haemostatic assessment. Multidisciplinary management involving obstetricians, anaesthetists, and haematologists enabled individualised care, resulting in successful outcomes including spontaneous vaginal delivery, caesarean section under general anaesthesia, and medically indicated termination, without significant haemorrhagic complications. This series highlights the importance of distinguishing qualitative from quantitative fibrinogen disorders and cautions against reflexive fibrinogen replacement based solely on functional assays. A structured diagnostic approach, supported by antigen testing and viscoelastic assessment, is essential to guide safe and effective management in pregnancy.
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