Congenital antithrombin deficiency in patients with splanchnic vein thrombosis.
Liver Int
; 40(5): 1168-1177, 2020 05.
Article
em En
| MEDLINE
| ID: mdl-31885188
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 (a) improve the detection of AT deficiency in SVT and (b) characterize the features of AT deficiency associated with SVT.METHODS:
The study was performed in 2 cohorts (a) 89 SVT patients with different underlying etiologies but in whom AT deficiency had been ruled out by classical diagnostic methods; and (b) 271 unrelated patients with confirmed AT deficiency and venous thrombosis. AT 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:
Antithrombin 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.Palavras-chave
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Base de dados:
MEDLINE
Assunto principal:
Trombose
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Trombofilia
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Trombose Venosa
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Deficiência de Antitrombina III
Limite:
Humans
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article