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Unusual presentation of factor XIII deficiency
1Department of Haematology, Great Ormond Street Hospital, Great Ormond Street, London, UK.
Summary
Factor XIII deficiency, a rare inherited bleeding disorder, is challenging to diagnose due to normal screening tests and variable symptoms. Early identification requires thorough patient history and family screening for unexplained bleeding.
Area of Science:
- Hematology
- Genetics
- Pediatrics
Background:
- Factor XIII deficiency is a rare inherited bleeding disorder.
- Diagnosis can be challenging due to normal standard screening tests and variable bleeding phenotypes.
- Unexplained bleeding necessitates investigation into rare bleeding disorders.
Observation:
- A 3-year-old girl presented with intracranial hemorrhage.
- Diagnosis was delayed by confounding factors including suspected arteriovenous malformation and deep venous thrombosis.
- Her brother was subsequently diagnosed with severe factor XIII deficiency.
Findings:
- Factor XIII deficiency can present with severe, life-threatening bleeding like intracranial hemorrhage.
- Diagnostic delays are common due to atypical presentations and confounding clinical factors.
- Family screening is crucial for identifying other affected individuals.
Implications:
- This case underscores the importance of detailed medical histories in diagnosing rare bleeding disorders.
- Physicians should consider factor XIII deficiency in unexplained bleeding cases, especially with a family history.
- Early diagnosis and management of factor XIII deficiency are critical to prevent severe complications.