Clinical Profile of Congenital Factor XIII Deficiency in Children.
Congenital Factor XIII deficiency (FXIIID)
Cryoprecipitate prophylaxis
Rare bleeding disorder (RBD)
South India
Journal
Indian journal of pediatrics
ISSN: 0973-7693
Titre abrégé: Indian J Pediatr
Pays: India
ID NLM: 0417442
Informations de publication
Date de publication:
14 Jun 2023
14 Jun 2023
Historique:
received:
29
09
2022
accepted:
17
03
2023
medline:
14
6
2023
pubmed:
14
6
2023
entrez:
14
6
2023
Statut:
aheadofprint
Résumé
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. 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. 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. 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.
Identifiants
pubmed: 37314674
doi: 10.1007/s12098-023-04681-y
pii: 10.1007/s12098-023-04681-y
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2023. The Author(s), under exclusive licence to Dr. K C Chaudhuri Foundation.
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