Author ORCID Identifier
Abstract
Background- Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by the complete absence of fibrinogen, a critical factor for clot formation in the blood. This deficiency leads to significant bleeding tendencies from birth. Patients typically present with severe haemorrhagic symptoms early in the neonatal period.
Case presentation- We describe a case of a neonate presenting with umbilical bleeding diagnosed with congenital afibrinogenemia. Initial clinical manifestations included active umbilical bleeding and pallor, while hematological workup revealed a lack of detectable fibrinogen. The diagnosis was confirmed by coagulation assays and genetic testing. The infant was managed with Fresh Frozen Plasma (FFP) transfusions, resulting in stabilization and resolution of bleeding.
Conclusion- The case underscores the importance of early recognition and management of congenital afibrinogenemia to prevent life-threatening bleeding complications.
Publication Date
Summer 7-6-2025
Publisher
JSS Academy of Higher Education & Research
Conflict of Interest
nil
Keywords
Congenital afibrinogenemia, Neonatal bleeding, Fibrinogen deficiency, rare coagulopathy, umbilical bleeding.
Word Count
1200
Recommended Citation
Hulkoti A, Ansari Q, Randad K, Sarkate AD Dr.
A Rare Cause of Severe Bleeding in Neonate: Congenital Afibrogenemia Case Report.
Digital Journal of Clinical Medicine.
2025;
8(2):
-.
doi:
https://doi.org/10.55691/2582-3868.1246
Creative Commons License
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License.
Included in
Diseases Commons, Health Information Technology Commons, Medical Education Commons, Medical Sciences Commons, Medical Specialties Commons, Mental and Social Health Commons, Psychiatry and Psychology Commons, Public Health Education and Promotion Commons