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Clinical Profile of Congenital Factor XIII Deficiency in Children

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Abstract

Objectives

Congenital Factor 13 Deficiency (FXIIID) is a rare bleeding disorder (RBD) of autosomal recessive inheritance, with an incidence of 1 in 3–5 million. The clinical symptomatology, diagnosis, and management of FXIIID are described.

Methods

A retrospective chart review of children with FXIIID was performed from January 2000 through October 2021 at a tertiary care center in Southern India. The diagnosis was performed by the Urea clot solubility test (UCST) and Factor XIII antigen assay.

Results

Twenty children (representing 16 families) were included. Male: Female ratio was 1.5:1. The median age of symptom onset was 6 mo, and the median age of diagnosis was 1 y, demonstrating a delay in diagnosis. Consanguinity was present in 15 (75%) with 4 children having affected siblings. Clinical symptomatology ranged from mucosal bleeds to intracranial bleeds and hemarthrosis, with many children having a history of prolonged umbilical bleeding in their neonatal period. Fourteen children were on cryoprecipitate prophylaxis. Four children had breakthrough bleeds due to irregular prophylaxis, including one intracranial bleed due to a delay in cryoprecipitate prophylaxis during the covid pandemic.

Conclusions

Congenital FXIIID presents with a wide range of bleeding manifestations. The high prevalence of consanguinity in Southern India can be a cause of FXIIID’s high prevalence in this region. There is a propensity for intracranial bleeding with a significant number having this at first presentation. Regular prophylaxis is required and feasible to prevent potentially fatal bleeds.

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Acknowledgements

The authors are thankful to the parents of Factor XIII-deficient children registered at SJMCH, for providing the necessary information.

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Contributions

AP: Conceived the idea & study design; NKN, EFP: Data collection, NKN: Wrote the paper; SS, AP: Revised the paper. AP will act as guarantor for this paper.

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Correspondence to Anand Prakash.

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The study was approved by the Institutional Ethics Committee (IEC Ref. 408/2021).

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Nadakuditi, N.K., Peters, E.F., Subramanian, S. et al. Clinical Profile of Congenital Factor XIII Deficiency in Children. Indian J Pediatr 91, 223–228 (2024). https://doi.org/10.1007/s12098-023-04681-y

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