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Antithrombin Deficiency

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Antithrombin Deficiency – Free Register to Access Experts & Abstracts

Javier Corral – One of the best experts on this subject based on the ideXlab platform.

  • Antithrombin Deficiency as a still underdiagnosed thrombophilia: a primer for internists.
    Polish archives of internal medicine, 2020
    Co-Authors: Carlos Bravo-perez, María Eugenia De La Morena-barrio, Vicente Vicente, Javier Corral

    Abstract:

    Antithrombin is a key endogenous anticoagulant that also plays other roles in inflammation, immunity, and other processes. Congenital Antithrombin Deficiency is the most severe type of thrombophilia, yet characterized by a remarkable clinical heterogeneity. Here, as a primer for internists, we present a practical review of data regarding this disorder, focused on its molecular basis, diagnostic procedures, prognostic implications, and clinical management of patients suffering from this severe, and probably underdiagnosed, type of thrombophilia.

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  • Management of Antithrombin Deficiency: an update for clinicians
    Expert review of hematology, 2019
    Co-Authors: Carlos Bravo-perez, Vicente Vicente, Javier Corral

    Abstract:

    Introduction. Antithrombin is a serpin that inhibits multiple procoagulant serine proteases and acts as an endogenous anticoagulant. Thus, congenital Antithrombin Deficiency constitutes a major thrombophilic state, the most severe so far. Areas covered. In the present work, we globally review the biology, genetics, diagnosis, and management of congenital Antithrombin Deficiency, and also discuss puzzling questions and future perspectives regarding this severe inherited thrombophilia. Expert opinion. Although this disorder exerts high clinical heterogeneity, many carriers will need careful and long-term anticoagulation and/or thromboprophylaxis, especially in high-risk situations, such as surgery and pregnancy. Notably, Antithrombin concentrates constitute a considerable arsenal for both treatment and prevention of acute venous thrombosis in subjects with Antithrombin Deficiency. Current evidences are based almost exclusively on retrospective case series, so an integrated functional, biochemical and molecular characterization will be of clinical relevance and guide hematologists’ personalized decisions.

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  • Incidence and features of thrombosis in children with inherited Antithrombin Deficiency.
    Haematologica, 2019
    Co-Authors: Belén De La Morena-barrio, María Eugenia De La Morena-barrio, Vicente Vicente, Christelle Orlando, Kristin Jochmans, Javier Corral

    Abstract:

    Pediatric thromboembolism (≤18 years) is very rare (0.07-0.14/10,000/year) but may be more prevalent in children with severe thrombophilia (protein C, protein S or Antithrombin Deficiency). The aim of this study was to define the prevalence and clinical characteristics of pediatric thrombosis in subjects with inherited Antithrombin Deficiency. Our observational retrospective multicentric study from two countries recruited 968 patients of any age from 441 unrelated families with genetically, biochemically and functionally characterized Antithrombin Deficiency. Seventy-three subjects (7.5%) developed thrombosis before 19 years of age. Two high-risk periods for thrombosis were identified: adolescence (12-18 years, n=49) with thrombus localization (lower limb deep venous thrombosis or pulmonary embolism) and triggering factors common to adults (oral contraceptives, surgery or pregnancy); and the neonatal period (

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Vicente Vicente – One of the best experts on this subject based on the ideXlab platform.

  • Antithrombin Deficiency as a still underdiagnosed thrombophilia: a primer for internists.
    Polish archives of internal medicine, 2020
    Co-Authors: Carlos Bravo-perez, María Eugenia De La Morena-barrio, Vicente Vicente, Javier Corral

    Abstract:

    Antithrombin is a key endogenous anticoagulant that also plays other roles in inflammation, immunity, and other processes. Congenital Antithrombin Deficiency is the most severe type of thrombophilia, yet characterized by a remarkable clinical heterogeneity. Here, as a primer for internists, we present a practical review of data regarding this disorder, focused on its molecular basis, diagnostic procedures, prognostic implications, and clinical management of patients suffering from this severe, and probably underdiagnosed, type of thrombophilia.

    Free Register to Access Article

  • Congenital Antithrombin Deficiency in patients with splanchnic vein thrombosis
    'Wiley', 2020
    Co-Authors: Baiges Aznar Anna, María Eugenia De La Morena-barrio, Vicente Vicente, Turon Fanny, Miñano Antonia, Ferrusquía, José Alberto, Magaz Marta, Reverter Calatayud, Juan Carlos, Hernández Gea Virginia, Corral Javier

    Abstract:

    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.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.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.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.© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd

    Free Register to Access Article

  • Management of Antithrombin Deficiency: an update for clinicians
    Expert review of hematology, 2019
    Co-Authors: Carlos Bravo-perez, Vicente Vicente, Javier Corral

    Abstract:

    Introduction. Antithrombin is a serpin that inhibits multiple procoagulant serine proteases and acts as an endogenous anticoagulant. Thus, congenital Antithrombin Deficiency constitutes a major thrombophilic state, the most severe so far. Areas covered. In the present work, we globally review the biology, genetics, diagnosis, and management of congenital Antithrombin Deficiency, and also discuss puzzling questions and future perspectives regarding this severe inherited thrombophilia. Expert opinion. Although this disorder exerts high clinical heterogeneity, many carriers will need careful and long-term anticoagulation and/or thromboprophylaxis, especially in high-risk situations, such as surgery and pregnancy. Notably, Antithrombin concentrates constitute a considerable arsenal for both treatment and prevention of acute venous thrombosis in subjects with Antithrombin Deficiency. Current evidences are based almost exclusively on retrospective case series, so an integrated functional, biochemical and molecular characterization will be of clinical relevance and guide hematologists’ personalized decisions.

    Free Register to Access Article

María Eugenia De La Morena-barrio – One of the best experts on this subject based on the ideXlab platform.

  • Antithrombin Deficiency as a still underdiagnosed thrombophilia: a primer for internists.
    Polish archives of internal medicine, 2020
    Co-Authors: Carlos Bravo-perez, María Eugenia De La Morena-barrio, Vicente Vicente, Javier Corral

    Abstract:

    Antithrombin is a key endogenous anticoagulant that also plays other roles in inflammation, immunity, and other processes. Congenital Antithrombin Deficiency is the most severe type of thrombophilia, yet characterized by a remarkable clinical heterogeneity. Here, as a primer for internists, we present a practical review of data regarding this disorder, focused on its molecular basis, diagnostic procedures, prognostic implications, and clinical management of patients suffering from this severe, and probably underdiagnosed, type of thrombophilia.

    Free Register to Access Article

  • Congenital Antithrombin Deficiency in patients with splanchnic vein thrombosis
    'Wiley', 2020
    Co-Authors: Baiges Aznar Anna, María Eugenia De La Morena-barrio, Vicente Vicente, Turon Fanny, Miñano Antonia, Ferrusquía, José Alberto, Magaz Marta, Reverter Calatayud, Juan Carlos, Hernández Gea Virginia, Corral Javier

    Abstract:

    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.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.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.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.© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd

    Free Register to Access Article

  • Incidence and features of thrombosis in children with inherited Antithrombin Deficiency.
    Haematologica, 2019
    Co-Authors: Belén De La Morena-barrio, María Eugenia De La Morena-barrio, Vicente Vicente, Christelle Orlando, Kristin Jochmans, Javier Corral

    Abstract:

    Pediatric thromboembolism (≤18 years) is very rare (0.07-0.14/10,000/year) but may be more prevalent in children with severe thrombophilia (protein C, protein S or Antithrombin Deficiency). The aim of this study was to define the prevalence and clinical characteristics of pediatric thrombosis in subjects with inherited Antithrombin Deficiency. Our observational retrospective multicentric study from two countries recruited 968 patients of any age from 441 unrelated families with genetically, biochemically and functionally characterized Antithrombin Deficiency. Seventy-three subjects (7.5%) developed thrombosis before 19 years of age. Two high-risk periods for thrombosis were identified: adolescence (12-18 years, n=49) with thrombus localization (lower limb deep venous thrombosis or pulmonary embolism) and triggering factors common to adults (oral contraceptives, surgery or pregnancy); and the neonatal period (

    Free Register to Access Article