Primary prophylaxis of venous thromboembolic disease with direct oral anticoagulants in patients with severe inherited thrombophilia

Krumb, Evelien; Hermans, Cédric

doi:10.1002/rth2.12479

Cited by 3 publications

(1 citation statement)

References 19 publications

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“…VKA has been used on careful monitoring for thromboprophylaxis in infants with EOT. Although DOACs are available for use in both adult and pediatric patients with inherited thrombophilia, 46–48 the clinical utility needs to be assessed according to the age of pediatric patients. PCC, which is limitedly licensed for hemophilia B in Japan, has been effectively used for PC‐deficient patients with biallelic variants 49,50 .…”

Section: Discussionmentioning

confidence: 99%

The clinical and genetic landscape of early‐onset thrombophilia in Japan

Egami,

Ishimura,

Ochiai

et al. 2023

Pediatric Blood & Cancer

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ObjectivesTo determine the optimal management for early‐onset thrombophilia (EOT), the genetic and clinical features of protein C (PC)‐, protein S (PS)‐, or antithrombin (AT)‐deficient patients of ≤20 years of age were studied in Japan.Methods/resultsClinical and genetic information of all genetically diagnosed cases was collected through the prospective, retrospective study, and literature review. One‐hundred‐one patients had PC (n = 55), PS (n = 29), or AT deficiency (n = 18). One overlapping case had PC‐ and PS‐monoallelic variant. Fifty‐five PC‐deficient patients (54%) had 26 monoallelic or 29 biallelic variant(s), and 29 (29%) PS‐deficient patients had 20 monoallelic or nine biallelic variant(s). None of the patients had AT‐biallelic variants. The frequent low‐risk allele p.K193del (PC‐Tottori) was found in five patients with monoallelic (19%) but not 29 with biallelic variant(s). The most common low‐risk allele p.K196E (PS‐Tokushima) was found in five with monoallelic (25%) and six with biallelic variant(s) (67%). One exceptional de novo PC variant was found in 32 families with EOT. Only five parents had a history of thromboembolism. Thrombosis concurrently developed in three mother–newborn pairs (two PC deficiency and one AT deficiency). The prospective cohort revealed the outcomes of 35 patients: three deaths with PC deficiency and 20 complication‐free survivors. Neurological complications were more frequently found in patients with PC‐biallelic variants than those with PC‐, PS‐, or AT‐monoallelic variants (73% vs. 24%, p = .019).ConclusionsWe demonstrate the need for elective screening for EOT targeting PC deficiency in Japan. Early prenatal diagnosis of PC deficiency in mother–infant pairs may prevent perinatal thrombosis in them.

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Section: Discussionmentioning

confidence: 99%

The clinical and genetic landscape of early‐onset thrombophilia in Japan

Egami,

Ishimura,

Ochiai

et al. 2023

Pediatric Blood & Cancer

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Secondary prophylaxis of venous thromboembolism with direct oral anticoagulants: comparison between patients with major congenital thrombophilia versus non-thrombophilic patients

et al. 2022

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Anticoagulation in Thrombophilia

Bojan¹,

Dobreanu²,

Bădulescu³

et al. 2022

Anticoagulation - Current Perspectives

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Thrombophilia is a condition of hypercoagulability, which is defined as an abnormality of blood clotting, disturbing the balance between procoagulants and anticoagulants in favor of the former, thus increasing the risk of thrombosis. It can be classified into different categories, such as genetic/administered; primary/secondary; permanent/transient; low risk/high risk. Venous thromboembolism is the main and most common complication of a hypercoagulable condition, with an enormous impact on any national health system. The pathophysiological mechanisms involved are at various stages of research, some of which are far from being fully elucidated. Treatment of thrombophilia differs—while most conditions do not require anticoagulation as primary prophylaxis, secondary prophylaxis may require transient or permanent anticoagulation. Treatment options include parenteral unfractionated heparin, low molecular weight heparin (LMWH), fondaparinux or orally administered vitamin K antagonists, and direct oral anticoagulants (DOAC), such as rivaroxaban, apixaban, dabigatran, with increasing indications as data accumulate from recent and ongoing studies and trials.

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Primary prophylaxis of venous thromboembolic disease with direct oral anticoagulants in patients with severe inherited thrombophilia

Cited by 3 publications

References 19 publications

The clinical and genetic landscape of early‐onset thrombophilia in Japan

The clinical and genetic landscape of early‐onset thrombophilia in Japan

Secondary prophylaxis of venous thromboembolism with direct oral anticoagulants: comparison between patients with major congenital thrombophilia versus non-thrombophilic patients

Anticoagulation in Thrombophilia

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