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Intracranial haemorrhage due to factor V deficiency
1Medical Faculty of Ondokuz Mayis University, Department of Paediatric Haematology, Samsun, Turkey.
Insights
Congenital Factor V deficiency, a rare inherited bleeding disorder, can cause serious issues like intracranial hemorrhage in infants. Prompt diagnosis is crucial, especially if bleeding persists despite vitamin K treatment.
Area of Science:
- Hematology
- Genetics
- Pediatrics
Background:
- Factor V deficiency is a rare, autosomal recessive inherited coagulation disorder.
- It presents a diagnostic challenge in infants with unexplained bleeding.
- Prolonged prothrombin time (PT) and activated partial thromboplastin time (aPTT) are key indicators.
Observation:
- This article details a case of an infant experiencing intracranial hemorrhage.
- The hemorrhage was attributed to undiagnosed congenital Factor V deficiency.
- Clinical presentation included persistent bleeding despite vitamin K administration.
Findings:
- Congenital Factor V deficiency can lead to severe bleeding complications, including intracranial hemorrhage in neonates.
- Early consideration of Factor V deficiency is vital in infants with bleeding diathesis and abnormal coagulation profiles.
- Diagnostic workup should include Factor V activity assays.
Implications:
- Highlights the importance of considering rare factor deficiencies in neonatal bleeding.
- Emphasizes the need for timely diagnosis and management to prevent life-threatening hemorrhage.
- Informs clinical practice regarding the evaluation of infants with persistent bleeding disorders.
Abstract:
Factor V deficiency is a rare coagulation disorder which is inherited autosomal recessively. Factor V deficiency should be considered in infants with bleeding disorders and prolonged prothrombin and activated partial thromboplastin times if bleeding continues in spite of vitamin K injection. In this article, the case of an infant with an intracranial haemorrhage due to congenital factor V deficiency is reported.