Abstract Number: PB0724
Meeting: ISTH 2021 Congress
Background: Congenital FXIII-A deficiency is a rare bleeding disorder that affects one individual in 1-2 million. It is inherited in an autosomal recessive pattern and it can occur due to mutation in either FXIII-A (type 2) or FXIII-B (type 1) genes. FXIII-A (type 2) defect accounts for 95% of all FXIII bleeding disorders.
Severe congenital FXIII deficiency causes severe bleeding events, with delayed type umbilical cord bleeding the first classic clinical sign of disease and the intracranial haemorrhage being the major cause of death. Therefore, early diagnosis and prophylaxis to prevent this life-threatening bleed is the key.
Aims: We present a case of a 4-year-old boy with severe congenital FXIII deficiency.
Methods: The diagnosis of Factor XIII deficiency had based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation, and a variety of specialized laboratory tests (FXIII activity assay, inhibitor assay, and molecular diagnosis).
Results: Our patient, a 4-year-old boy with history of umbilical bleeding in the neonatal period and prolonged bleeding after trauma, showed a frequent easy bruising. The basic haemostatic study was normal. Nevertheless, laboratory examination revealed that Factor XIII activity was only 1% and ruled out the presence of anti-FXIII antibodies. In addition, molecular diagnosis revealed two heterozygous mutations of FXIII-A gene. Accordingly, the patient started on regularly plasma-derived FXIII concentrate application every three weeks. The objective is to maintain levels of Factor XIII > 5%. No bleeding has occurred in the three months since then.
Conclusions: Awareness of clinical symptoms indicative of this disorder is paramount to ensure early diagnosis. The majority of patients with FXIII levels <1%, are a great risk of severe spontaneous bleeding. Early diagnosis and prophylaxis to prevent life-threatening bleeding is the key, as well as to individualize prophylaxis in patients with levels >1%.
To cite this abstract in AMA style:Delgado I, Tugues A, Marzo C, Vicente E, Garcia A, Ferrero A, Rivero ME, Luaña A, Chavez CE, Teixido M, Ruiz A, Santoja R, Garcia T. Severe Congenital Factor XIII-A Deficiency: A Clinical Case [abstract]. Res Pract Thromb Haemost. 2021; 5 (Suppl 2). https://abstracts.isth.org/abstract/severe-congenital-factor-xiii-a-deficiency-a-clinical-case/. Accessed November 29, 2023.
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