Congenital antithrombin deficiency in patients with splanchnic vein thrombosis
- 29 December 2019
- journal article
- research article
- Published by Wiley in Liver International
- Vol. 40 (5), 1168-1177
- https://doi.org/10.1111/liv.14342
Abstract
Background and aims Splanchnic vein thromboses (SVT) are a rare condition that can be life‐threatening. The most severe thrombophilia associated to SVT is antithrombin (AT) deficiency, usually caused by SERPINC1 mutations. Although transitory AT deficiencies and congenital disorders of the N‐glycosylation pathways (CDG) have been recently reported as causes of AT deficiency, the current AT clinical screening still only includes anti‐FXa activity. This study aims to 1) improve the detection of antithrombin deficiency in SVT and 2) characterize the features of antithrombin deficiency associated with SVT. Methods The study was performed in 2 cohorts: 1) 89 SVT patients with different underlying etiologies but in whom AT deficiency had been ruled out by classical diagnostic methods; and 2) 271 unrelated patients with confirmed AT deficiency and venous thrombosis. Antithrombin was evaluated by functional (anti‐FXa and anti‐FIIa) and immunological methods (ELISA, crossed immunoelectrophoresis, western blot), and SERPINC1 sequencing was performed. Results In 4/89 patients (4.5%) additional alterations in AT were found (two had SERPINC1 mutations, one had a specific variant causing transient AT deficiency and one patient had CDG). In 11 of the 271 patients (4.1%) with AT deficiency and thrombosis, thrombosis was located at the splanchnic venous territory. Conclusions AT deficiency may be underdiagnosed by current clinical screening techniques. Therefore, a comprehensive AT evaluation should be considered in cases of rethrombosis or doubtful interpretation of anti‐FXa activity levels. SVT is a relatively common localization of the thrombotic event in patients with congenital AT deficiency.Keywords
Funding Information
- Fundación Séneca (19873/GERM/15)
This publication has 24 references indexed in Scilit:
- Management of antithrombin deficiency: an update for cliniciansExpert Review of Hematology, 2019
- FRI-439-Factor V and VIII may predict the risk of recurrent splanchnic thrombosis in patients with non-cirrhotic chronic portal vein thrombosis of local and idiopathic etiology not receiving anticoagulationJournal of Hepatology, 2019
- Current knowledge in pathophysiology and management of Budd-Chiari syndrome and non-cirrhotic non-tumoral splanchnic vein thrombosisJournal of Hepatology, 2019
- Natural history and management of esophagogastric varices in chronic noncirrhotic, nontumoral portal vein thrombosisJournal of Hepatology, 2016
- EASL Clinical Practice Guidelines: Vascular diseases of the liverJournal of Hepatology, 2015
- Role of calreticulin mutations in the aetiological diagnosis of splanchnic vein thrombosisJournal of Hepatology, 2015
- Inherited risk factors for venous thromboembolismNature Reviews Cardiology, 2014
- Molecular basis of antithrombin deficiencyThrombosis and Haemostasis, 2011
- Trombosis portalGastroenterología y Hepatología, 2010
- The impact of JAK2 and MPL mutations on diagnosis and prognosis of splanchnic vein thrombosis: a report on 241 casesBlood, 2008