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Congenital afibrinogenaemia
Insights
Congenital afibrinogenemia is a rare bleeding disorder characterized by a complete absence of fibrinogen. This case highlights its severe hemorrhagic manifestations and probable autosomal recessive inheritance pattern.
Area of Science:
- Hematology
- Genetics
- Pediatrics
Background:
- Congenital afibrinogenemia is a rare inherited bleeding disorder.
- It results from mutations in genes responsible for fibrinogen synthesis.
- Affected individuals present with severe bleeding tendencies from birth.
Observation:
- A young female child presented with a lifelong hemorrhagic tendency.
- Symptoms included prolonged umbilical bleeding and easy bruising.
- Two brothers had similar bleeding issues, with one dying neonatally and another in childhood from hemorrhage.
Findings:
- Complete absence of blood coagulability was observed.
- Coagulation tests were grossly abnormal, with undetectable fibrinogen levels.
- Erythrocyte Sedimentation Rate (ESR) was zero, and thrombin time corrected after fibrinogen infusion.
Implications:
- The family history suggests an autosomal recessive mode of inheritance for this condition.
- This case underscores the critical role of fibrinogen in hemostasis.
- Early diagnosis and management are crucial for patients with congenital afibrinogenemia.
Abstract:
A case of congenital afibrinogenaemia in a young female child is described. She had haemorrhagic tendency since birth in the form of markedly prolonged umbilical bleeding and easy bruising afterwards. Two of her brothers had bleeding tendencies, one died shortly after birth due to uncontrollable umbilical bleeding and other died at the age of 12 years from internal haemorrhage. The family study indicates the mode of inheritance to be probably autosomal recessive. The principal laboratory findings are complete non-coagulability of blood, grossly abnormal coagulation tests, zero ESR value, failure to detect fibrinogen by heat coagulation or chemical precipitation tests and biuret reaction and correction of thrombin time after fibrinogen infusion.