Clinical and laboratory characteristics of paediatric and adolescent index cases with venous thromboembolism and antithrombin deficiency. An observational multicentre cohort study.

Abstract

Venous thromboembolism [TE] is a multifactorial disease and antithrombin deficiency [ATD] constitutes a major risk factor. In the present study the prevalence of ATD and the clinical presentation at TE onset in a cohort of paediatric index cases are reported. In 319 unselected paediatric patients (0.1-18 years) from 313 families, recruited between July 1996 and December 2013, a comprehensive thrombophilia screening was performed along with recording of anamnestic data. 21 of 319 paediatric patients (6.6%), corresponding to 16 of 313 families (5.1%), were AT-deficient with confirmed underlying AT gene mutations. Mean age at first TE onset was 14 years (range 0.1 to 17). Thrombotic locations were renal veins (n=2), cerebral veins (n=5), deep veins (DVT) of the leg (n=9), DVT & pulmonary embolism (n=4) and pelvic veins (n=1). ATD co-occurred with the factor-V-Leiden mutation in one and the prothrombin G20210A mutation in two children. In 57.2% of patients a concomitant risk factor for TE was identified, whereas 42.8% of patients developed TE spontaneously. A second TE event within primarily healthy siblings occurred in three of 313 families and a third event among siblings was observed in one family. In an unselected cohort of paediatric patients with symptomatic TE, the prevalence of ATD adjusted for family status was 5.1%. Given its clinical implication for patients and family members, thrombophilia testing should be performed and the benefit of medical or educational interventions should be evaluated in this high risk population.

• Authors: V Limperger, A Franke, G Kenet, S Holzhauer, V Picard, R Junker, C Heller, C Gille, D Manner, K Kurnik, R Knoefler, R Mesters, S Halimeh, U Nowak-Göttl
• Journal: Thrombosis and haemostasis (Thromb Haemost) Vol. 112 Issue 3 Pg. 478-85 (Sep 02 2014) ISSN: 2567-689X [Electronic] Germany
• PMID: 24966143 (Publication Type: Journal Article, Multicenter Study, Observational Study)

Chemical References

• Antithrombin Proteins
• factor V Leiden
• Factor V
• Prothrombin

Topics

• Adolescent
• Antithrombin Proteins (genetics)
• Child
• Child, Preschool
• Cohort Studies
• Factor V (genetics)
• Genetic Testing
• Humans
• Infant
• Patient Education as Topic
• Prevalence
• Prothrombin (genetics)
• Risk
• Thrombophilia (epidemiology, genetics)
• Venous Thromboembolism (epidemiology, genetics)