ArticleHaematologica2019
Incidence and features of thrombosis in children with inherited antithrombin deficiency.
Article in Haematologica, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 35 citations in OpenAlex.
- Safety and efficacy of endovascular treatment in symptomatic pediatric cerebral venous sinus thrombosis.Neuroradiology · 2026Article
- Pregnancy Complicated by Hereditary Antithrombin Deficiency: A Case Study and Insights From the Literature.Clinical case reports · 2026Article
- Heparin Resistance in Cardiac Surgery with Cardiopulmonary Bypass: Mechanisms, Clinical Implications, and Evidence-Based Management.Medicina (Kaunas, Lithuania) · 2025Review
- A cluster of pediatric vaccine-induced immune thrombotic thrombocytopenia-like cases with thrombosis and thrombocytopenia following respiratory infections-case series.Research and practice in thrombosis and haemostasis · 2024Article
- Antithrombin Deficiency Is Associated with Prothrombotic Plasma Fibrin Clot Phenotype.Thrombosis and haemostasis · 2023Article
- Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation.Molecular genetics and metabolism · 2023Article
- Argatroban Resistance and Successful Adjunctive Anticoagulation for Cerebral Venous Sinus Thrombosis WithNeurology. Clinical practice · 2023Article
- Antithrombin Deficiency and Thrombosis: A Wide Clinical Scenario Reported in a Single Institution.Journal of blood medicine · 2023Article
- Analysis of phenotype and gene mutation in three pedigrees with inherited antithrombin deficiency.Journal of clinical laboratory analysis · 2022Article
- An Unusual Case Study of Idiopathic Bilateral Deep Vein Thrombosis and Osteonecrosis of the Left Distal Tibia in an 11-year-old Girl.Journal of orthopaedic case reports · 2022Article
- Coexistence of antithrombin deficiency and suspected inferior vena cava atresia in an adolescent and his mother - case report and clinical implications.Thrombosis journal · 2021Article
- Novel Mutation p.Asp374Val ofTurkish journal of haematology : official journal of Turkish Society of Haematology · 2021Article
- Targeting of antithrombin in hemophilia A or B with investigational siRNA therapeutic fitusiran-Results of the phase 1 inhibitor cohort.Journal of thrombosis and haemostasis : JTH · 2021Article
- A pilot study on the impact of congenital thrombophilia in COVID-19.European journal of clinical investigation · 2021Article
- Antithrombin Therapy: Current State and Future Outlook.Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisArticle
- Hereditary Antithrombin Deficiency in Pediatric Patients: Pathophysiology, Clinical Features, Diagnosis, and Antithrombin Replacement Therapy.Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisReview
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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
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