Abstract Number: PB0802
Meeting: ISTH 2021 Congress
Background: Inherited antithrombin (AT) deficiency (IATD) is a rare but strong risk factor for development of serious thrombosis. It is a challenging condition due to very limited data in childhood.
Aims: The aim of this study was to evaluate the clinical characteristics and outcome in children with IATD by a multicenter national study.
Methods: A questionnaire form was sent to collect the children with IATD (AT activity levels<70%) to all Pediatric Hematology&Oncology centers on behalf of the Hemostasis,Thrombosis and Hemophilia Subcommittee of Turkish Society of Pediatric Hematology.
Results: Nine centers reported the detailed data of 19 children (12girls, 7boys) with IATD (2 patients were sibling). Sixteen patients were admitted with acute thrombosis and 3 asymptomatic children (10,17,19 years) for follow-up due to the family history.The youngest age for the first thrombosis was 8 days, and the oldest was 17.5 years. The age distribution had two peaks: Newborns/infants and adolescents. The lowest AT level was<5%, and the highest was 52%. The family history was positive in 11 of 19 children,and the parents with consanguineous marriage was present in 5.Fourteen patients had DVT, and two patients had arterial thrombosis. The DVT sites of 14 patients were as follows:lower extremity DVT (n:5), CSVT (n: 4), renal vein (n:3), rom left hepatic veins to vena cava inferior (n:1), upper extremity DVT (n:1). Nine patients had acquired risk factors for thrombosis such as infections,catheters, trauma, andone patient was at the 10th day of post-partum period. All patients are alive, 2 new patients are on the treatment of acute thrombosis. During the follow-up period, thrombosis complications developed as follows: PTS (n:4), extremity amputation, unilateral nephrectomy and bowel resection, renal atrophy, mild psychomotor retardation, hemiparesis, osteonecrosis in each patient.In addition, the recurrence with pulmonary embolism developed in 3 patients. Mutation analyses could be done for 7 children.Ten of 14 patients are on thrombosis prophylaxis with different agents.
Conclusions: In conclusion, acute and long-term management of IATD are very important. Patients and families should be informed of the additional risk factors which further increase the recurrence of thrombosis.
To cite this abstract in AMA style:Unuvar A, Sarper N, Demirsoy U, Eker I, Eroglu N, Kaya Z, Aslan D, Karadas NO, Kavakli K, Ozbek N, Yarali N, Canbolat A, Celkan T, Evim M, Karaman S, Oren H. Inherited Antithrombin Deficiency in Childhood: A Multicenter National Study [abstract]. Res Pract Thromb Haemost. 2021; 5 (Suppl 1). https://abstracts.isth.org/abstract/inherited-antithrombin-deficiency-in-childhood-a-multicenter-national-study/. Accessed September 16, 2021.
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