Thrombophilia Impact on Treatment Decisions, Subsequent Venous or Arterial Thrombosis and Pregnancy-Related Morbidity: A Retrospective Single-Center Cohort Study

Vrotniakaite-Bajerciene, Kristina; Tritschler, Tobias; Jalowiec, Katarzyna Aleksandra; Broughton, Helen; Brodard, Justine; Porret, Naomi; Haynes, Alan G.; Rovó, Alicia; Hovinga, Johanna A. Kremer; Aujesky, Drahomir; Angelillo‐Scherrer, Anne

doi:10.3390/jcm11144188

Cited by 4 publications

(3 citation statements)

References 52 publications

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“…41 Pregnant mothers with heritable thrombophilia need appropriate anticoagulation and/or replacement therapy during the pregnancy course. 13,42 The majority of neonatal thrombosis cases develop in the first 3 days of life, with or without thrombophilia. 12 Prenatal genetic testing for thrombophilia may determine the need for the management of subsequent pregnancies.…”

Section: Discussionmentioning

confidence: 99%

“…Maternal thrombophilia is associated with recurrent fetal loss and implantation failure 41 . Pregnant mothers with heritable thrombophilia need appropriate anticoagulation and/or replacement therapy during the pregnancy course 13,42 . The majority of neonatal thrombosis cases develop in the first 3 days of life, with or without thrombophilia 12 .…”

Section: Discussionmentioning

confidence: 99%

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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%

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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“…Anticoagulant therapies, both short-term and long-term, play a central role in managing thrombotic events and preventing their recurrence. Additionally, lifestyle modifications and genetic counseling may be recommended to mitigate risks associated with the condition (13,14,15).…”

Section: Current Pathophysiological Considerations Clinical Manifesta...mentioning

confidence: 99%

Oxidative Stress and Thrombophilia: Focus on Pregnancy-Related Pathophysiological Mechanisms

Dimitrijevic,

Jakovljevic,

Jovic

et al. 2024

Experimental and Applied Biomedical Research (EABR)

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Thrombophilia, characterized by an increased tendency to form blood clots, presents a substantial risk during pregnancy, potentially impacting maternal and fetal outcomes. This review explores the intricate relationship between thrombophilia and oxidative stress, shedding light on their combined influence on blood clot formation. Specifically, endothelial dysfunction, driven by oxidative stress, emerges as a pivotal factor in thrombophilia, setting the stage for increased platelet activation and altered coagulation factors. Factors like Factor V Leiden mutation, Prothrombin G20210A mutation, and deficiencies in antithrombin, protein C, and protein S contribute to the pro-thrombotic state observed in thrombophilia. Furthermore, inflammation, closely intertwined with oxidative stress, exacerbates the risk of blood clot formation. Inflammatory responses lead to endothelial activation, altered endothelial function, and increased adhesion molecules expression, disrupting the delicate balance between pro- and anti-coagulant factors. Chronic inflammatory conditions, such as autoimmune disorders, potentiate a persistent state of heightened clotting risk. Additionally, impaired antioxidant defenses compound the prothrombotic state by allowing the accumulation of reactive oxygen species, thereby contributing to oxidative stress-induced endothelial dysfunction. Understanding the interplay between these factors is crucial for tailored thrombophilia management, particularly in pregnancy. Treatment strategies encompass a multifaceted approach, including anticoagulant medications, lifestyle modifications, and targeted interventions to improve endothelial health. The complex nature of thrombophilia underscores the need for a collaborative healthcare approach, involving hematologists and high-risk pregnancy specialists. Early detection, vigilant monitoring, and timely intervention are paramount in mitigating risks for both mother and baby.

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