Incidence and features of thrombosis in children with inherited antithrombin deficiency.

Authors:
Christelle Orlando
Christelle Orlando
UZ Brussel Vrije Universiteit (VUB)
Turkey
Vicente Vicente
Vicente Vicente
University of Murcia
Spain
Kristin Jochmans
Kristin Jochmans
Universitair Ziekenhuis Brussel
Belgium
Javier Corral
Javier Corral
Centro Regional de Hemodonación
Spain

Haematologica 2019 Apr 11. Epub 2019 Apr 11.

Hospital Universitario Morales Meseguer, Universidad de Murcia, Murcia, Spain;

Pediatric thromboembolism (≤18 years) is very rare (0.07-0.14/10,000/year) but may be more prevalent in children with severe thrombophilia (protein C, protein S or antithrombin deficiency). The aim of this study was to define the prevalence and clinical characteristics of pediatric thrombosis in subjects with inherited antithrombin deficiency. Our observational retrospective multicentric study from two countries recruited 968 patients of any age from 441 unrelated families with genetically, biochemically and functionally characterized antithrombin deficiency. Seventy-three subjects (7.5%) developed thrombosis before 19 years of age. Two high risk periods for thrombosis were identified: adolescence (12-18 years, n=49) with thrombus localization (lower limb, deep venous thrombosis or pulmonary embolism) and triggering factors common to adults (oral contraceptives, surgery or pregnancy); and neonatal period (<30 days, n=15) with idiopathic thrombosis at unusual sites. The clinical evaluation of pediatric thrombosis in subjects with antithrombin deficiency revealed: i) a high prevalence of cerebral sinovenous thrombosis (n=13, 17.8%), mainly at young age (8 neonates and 4 children <6 years); ii) severe outcome with fatality in 6 cases (3 neonates, two of them homozygous for p.Leu131Phe). The majority of subjects (76.7%) carried quantitative type I deficiency. This retrospective analysis of the so far largest cohort of subjects with inherited antithrombin deficiency provides strong evidence for an increased risk of pediatric thrombosis associated with this thrombophilia (300-fold compared with the general population: 0.41%/year vs 0.0014%/year, respectively). Our results support testing for antithrombin deficiency in children of affected families, particularly in case of type I deficiency.

Download full-text PDF

Source
http://dx.doi.org/10.3324/haematol.2018.210666DOI Listing
April 2019
2 Reads

Publication Analysis

Top Keywords

antithrombin deficiency
16
inherited antithrombin
8
thrombosis
5
countries recruited
4
triggering factors
4
study countries
4
recruited 968
4
968 patients
4
age 441
4
pulmonary embolism
4
periods thrombosis
4
patients age
4
thrombosis identified
4
embolism triggering
4
retrospective multicentric
4
common adults
4
subjects inherited
4
thrombosis subjects
4
pediatric thrombosis
4
deficiency observational
4

Similar Publications