Incidence and features of thrombosis in children with inherited antithrombin deficiency.
Adolescent
Adult
Antithrombin III Deficiency
/ genetics
Belgium
/ epidemiology
Case-Control Studies
Child
Child, Preschool
Female
Follow-Up Studies
Genetic Predisposition to Disease
Humans
Incidence
Infant
Infant, Newborn
Male
Pregnancy
Prognosis
Retrospective Studies
Risk Factors
Spain
/ epidemiology
Thrombosis
/ epidemiology
Young Adult
Journal
Haematologica
ISSN: 1592-8721
Titre abrégé: Haematologica
Pays: Italy
ID NLM: 0417435
Informations de publication
Date de publication:
12 2019
12 2019
Historique:
received:
31
10
2018
accepted:
09
04
2019
pubmed:
13
4
2019
medline:
5
8
2020
entrez:
13
4
2019
Statut:
ppublish
Résumé
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 the 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 six cases (3 neonates, two of them homozygous for p.Leu131Phe). The majority of subjects (76.7%) carried quantitative type I deficiency. This retrospective analysis includes the largest cohort of subjects with inherited antithrombin deficiency so far and provides strong evidence for an increased risk of pediatric thrombosis associated with this thrombophilia (300-fold compared with the general population: 0.41%/year
Identifiants
pubmed: 30975910
pii: haematol.2018.210666
doi: 10.3324/haematol.2018.210666
pmc: PMC6959168
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2512-2518Informations de copyright
Copyright© 2019 Ferrata Storti Foundation.
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