Clinical Profile of Congenital Factor XIII Deficiency in Children.
Indian J Pediatr
; 91(3): 223-228, 2024 Mar.
Article
in En
| MEDLINE
| ID: mdl-37314674
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 1.51. 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.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Factor XIII Deficiency
Type of study:
Risk_factors_studies
Limits:
Child
/
Female
/
Humans
/
Male
/
Newborn
Language:
En
Journal:
Indian J Pediatr
Year:
2024
Document type:
Article
Affiliation country: