{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T08:08:24Z","timestamp":1771488504997,"version":"3.50.1"},"reference-count":45,"publisher":"Georg Thieme Verlag KG","issue":"09","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Thromb Haemost"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>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 un - selected paediatric patients (0.1\u201318 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 &amp; 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.<\/jats:p>","DOI":"10.1160\/th14-02-0149","type":"journal-article","created":{"date-parts":[[2014,6,26]],"date-time":"2014-06-26T11:16:39Z","timestamp":1403781399000},"page":"478-485","source":"Crossref","is-referenced-by-count":23,"title":["Clinical and laboratory characteristics of paediatric and adolescent index cases with venous thromboembolism and antithrombin deficiency"],"prefix":"10.1160","volume":"112","author":[{"given":"Verena","family":"Limperger","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andre","family":"Franke","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gili","family":"Kenet","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne","family":"Holzhauer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralf","family":"Junker","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Heller","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Gille","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Manner","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karin","family":"Kurnik","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralf","family":"Knoefler","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rolf","family":"Mesters","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Halimeh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veronique","family":"Picard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrike","family":"Nowak-G\u00f6ttl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2017,12,2]]},"reference":[{"key":"10.1160\/TH14-02-0149-1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(98)10266-0"},{"key":"10.1160\/TH14-02-0149-2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.108.789008"},{"key":"10.1160\/TH14-02-0149-3","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.109.913673"},{"key":"10.1160\/TH14-02-0149-4","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2008.07339.x"},{"key":"10.1160\/TH14-02-0149-5","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R100016200"},{"key":"10.1160\/TH14-02-0149-6","doi-asserted-by":"publisher","DOI":"10.1021\/bi00647a021"},{"key":"10.1160\/TH14-02-0149-7","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1182\/blood.V65.1.198.198","volume":"65","author":"Buchanan","year":"1985","journal-title":"Blood"},{"key":"10.1160\/TH14-02-0149-8","doi-asserted-by":"crossref","unstructured":"Bj\u00f6rk I, Olson ST. 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