Factor XIII Deficiency in Siblings: Importance of Prophylactic Replacement

Abstract

Factor XIII deficiency, an autosomal recessive trait, can result in serious bleeding manifestation. This case report presents two brothers with Factor XIII deficiency. Though the younger sibling had been screened and diagnosed prophylactic replacement therapy had not been initiated unlike the elder brother. He presented with intracranial haemorrhage needing surgical evacuation while the elder brother remained symptom free on regular prophylactic replacement of FFP.

Factor XIII deficiency presenting with intracerebral bleed

“…As the half-life of endogenous factor XIII is long, ranging from 5 to 11 days, prophylactic therapy with fresh frozen plasma in doses of 10 ml/kg can be given every 4–6 weeks. Cryoprecipitate can be administered in doses of 1 bag per 10–20 kg every 3–4 weeks 10. Currently in western countries, most patients are being treated with plasma-derived pasteurised factor XIII concentrate 11.…”

Spontaneous Acute Cerebral Hematoma in a Child with Factor XIII Deficiency

“…The clinical manifestations of factor XIII deficiency are neonatal hemorrhage and lifelong bleeding diathesis. The incidence of intracranial hemorrhage (ICH) is higher in factor XIII, factor X, and fibrinogen deficiency than any other congenital bleeding disorders [2]. We report here on the clinical outcome of a young child with intracranial bleeding due to factor XIII deficiency.…”