| Autor: |
Limperger V, Franke A, Kenet G, Holzhauer S, Picard V, Junker R, Heller C, Gille C, Manner D, Kurnik K, Knoefler R, Mesters R, Halimeh S, Nowak-Göttl U; Ulrike Nowak-Göttl, Center of Thrombosis & Hemostasis, Institute of Clinical Chemistry, Univ. Hospital Kiel, Arnold-Heller-Str. 3, Building 17, 24105 Kiel, Germany, E-mail: leagottl@uksh.de. |
| Jazyk: |
angličtina |
| Zdroj: |
Thrombosis and haemostasis [Thromb Haemost] 2014 Sep 02; Vol. 112 (3), pp. 478-85. Date of Electronic Publication: 2014 Jun 26. |
| DOI: |
10.1160/TH14-02-0149 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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