thrombophilia screening
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Author(s):  
Jean-Christophe Gris ◽  
Éva Cochery-Nouvellon ◽  
Chloé Bourguignon ◽  
Éric Mercier ◽  
Sylvie Bouvier ◽  
...  

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Kwang Hwi Lee ◽  
Eui Yong Jeon ◽  
Maryam Hasan Abdulla ◽  
Young Joon Ahn ◽  
George Thomas ◽  
...  

: Splanchnic vein thrombosis is one of the rare complications of coronavirus disease 2019 (COVID-19). A 43-year-old woman presented with splanchnic vein thrombosis as a rare extrapulmonary complication of COVID-19. She was previously healthy without a medical history of coagulopathy before hospital admission. She complained of epigastric pain, along with nausea and vomiting. Enhanced abdominopelvic CT scan demonstrated extensive acute thrombosis in the portal, superior mesenteric, and splenic veins with total occlusion. Intestinal ischemia or infarction was not clinically observed. All thrombophilia screening tests yielded negative results. Under anticoagulation therapy, she recovered dramatically and was discharged from the hospital. Imaging findings can be used to confirm splanchnic vein thrombosis when a COVID-19 patient has abdominal symptoms.


2021 ◽  
Vol 12 ◽  
Author(s):  
Aude Triquenot Bagan ◽  
Isabelle Crassard ◽  
Ludovic Drouet ◽  
Marianne Barbieux-Guillot ◽  
Raphaël Marlu ◽  
...  

Introduction: Cerebral venous thrombosis (CVT) is a rare disease with highly variable clinical presentation and outcome. Etiological assessment may be negative. The clinical and radiological presentation and evolution can be highly variable. The mechanisms involved in this variability remain unknown.Objective: The aim of this multicenter French study registered on ClinicalTrials.gov (NCT02013635) was therefore to prospectively recruit a cohort of patients with cerebral venous thrombosis (FPCCVT) in order to study thrombin generation and clot degradation, and to evaluate their influence on clinical radiological characteristics. The first part of the study was to compare our cohort with a reference cohort.Methods: This prospective, multicenter, French study was conducted from July 2011 to September 2016. Consecutive patients (aged >15 years) referred to the stroke units of 21 French centers and who had a diagnosis of symptomatic CVT were included. All patients gave their written informed consent. The diagnosis of CVT had to be confirmed by imaging. Clinical, radiological, biological, and etiological characteristics were recorded at baseline, at acute phase, at 3 months and at last follow-up visit. Thrombophilia screening and the choice of treatment were performed by the attending physician. All data were compared with data from the International Study on CVT published by Ferro et al.Results: Two hundred thirty-one patients were included: 117 (50.6%) had isolated intracranial hypertension, 96 (41.5%) had focal syndrome. During hospitalization, 229 (99.1%) patients received anticoagulant treatment. Median length of hospital stay was 10 days. Five patients died during hospitalization (2.2%). At 3 months, 216 patients (97.0%) had follow-up with neurological data based on an outpatient visit. The mean duration of antithrombotic treatment was 9 months, and the mean time to last follow-up was 10.5 months. At the end of follow-up, eight patients had died, and 26 patients were lost to follow-up. At least one risk factor was identified in 200 patients.Conclusions: We demonstrated that the FPCCVT cohort had radiological, biological, and etiological characteristics similar to the historical ISCVT cohort. Nevertheless, the initial clinical presentation was less severe in our study probably due to an improvement in diagnostic methods between the two studies.


2021 ◽  
Vol 32 (5) ◽  
pp. 356-358
Author(s):  
Rémy Favre ◽  
Sara Zia-Chahabi ◽  
Yasmina Talb ◽  
Noémie de Gunzburg ◽  
Claire Flaujac

Author(s):  
Bahri Dhouha ◽  
Baccouche Hela ◽  
Ben Fatma Lilia ◽  
Haddad Sarra ◽  
Zouaghi Mohamed Karim ◽  
...  

2021 ◽  
pp. 66-66
Author(s):  
Iva Pruner ◽  
Evica Dincic ◽  
Maja Gvozdenov ◽  
Branko Tomic ◽  
Mirjana Kovac ◽  
...  

Background/Aim. Ischemic stroke is a heterogeneous disorder caused by several genetic and environmental risk factors. It was suggested that coagulation disorders cause 1-4% of cases with ischemic stroke, especially in patients with early-onset of ischemic stroke. Case report. Here, we describe a case of patient who developed an unprovoked ishemic stroke in young adult. Biochemical, immunological and thrombophilia screening, as well DNA sequencing were performed in order to reveal molecular pathology underlying stroke of patient. Thrombophilia testing showed that patient was homozygous carrier for PAI-1 4G/5G and MTHFR C677T mutations. Additional genetic analysis revealed the presence of recently reported FII c.1824C>T gene variant, which is located in the last exon of prothrombin gene and previously shown to cause hyperprothrombinemia, hypofibrinolysis and altered fibrin clot phenotype. Conclusion. Our results suggest that newly reported FII c.1824C>T gene variant might have synergistic effect with PAI 4G/4G and MTHFR 677TT genotype in formation of altered fibrin clot phenotype characterized by thin, densely packed fibrin fibers, which makes clot less susceptible to fibrinolysis and greatly increases the risk for early ischemic stroke onset.


Blood ◽  
2020 ◽  
Vol 136 (Supplement 1) ◽  
pp. 3-3
Author(s):  
Omar Raslan ◽  
Christopher Tran ◽  
Fatimah Al-Ani ◽  
Luciano Sposato ◽  
Alejandro Lazo-Langner

Introduction. Screening for inherited thrombophilia has been recommended in patients with cryptogenic ischemic strokes and anticoagulant therapy is frequently indicated based on these results. However, current evidence suggests that thrombophilia screening is over utilized in stroke patients and may provide more risks than benefits. Patients and Methods.We conducted a retrospective cohort study in patients with transient ischemic attack (TIA) or ischemic stroke who had a thrombophilia screen and determined the proportions of each thrombophilia trait, and the proportion of high risk thrombophilia in this population. Pre-specified subgroup analyses were conducted for patients with ischemic stroke and transient ischemic attacks, and for patients with patent foramen ovale. Results.We included 412 patients (152 male and 260 female). The prevalence of thrombophilia was 7.52% (95% CI 5.35-10.48). The proportion of major thrombophilia was 2.18 (95% CI=1.15 - 4.09). The proportion of thrombophilia traits in ischemic stroke patients was lower 4.92% (95% CI 2.61 - 9.08) than that in patients with transient ischemic attacks 9.57% (95% CI = 6.41 - 14.06); Only 2 individuals had both a positive thrombophilia screen and a patent foramen ovale. Discussion. In this study the prevalence of thrombophilia traits in patients with ischemic stroke or transient ischemic attack was low, including high risk thrombophilic traits. Further studies are needed to determine if thrombophilia screening exposes these patients to additional risks without any benefits. Disclosures Sposato: Western University:Other: Kathleen and Dr. Henry Barnett Chair in Stroke Research;Boehringer Ingelheim:Honoraria, Research Funding;Pfizer:Honoraria, Research Funding;Gore:Honoraria, Research Funding;Bayer:Honoraria, Research Funding.


2020 ◽  
Vol 42 (2) ◽  
pp. 259-263
Author(s):  
Nikola Gjorgjievski ◽  
Pavlina Dzekova-Vidimliski

ABSTRACT Introduction: The antiphospholipid syndrome is a systemic autoimmune disease defined by recurrent vascular and/or obstetrical morbidity that occurs in patients with persistent antiphospholipid antibodies. Case presentation: A patient on hemodialysis with a primary antiphospholipid syndrome presented with recurrent vascular access thrombosis, obstetrical complications, and positive lupus anticoagulant. The patient had multiple arteriovenous fistulas that failed due to thrombosis. The obstetrical morbidity was defined by one miscarriage at the 7th week of gestation and a pregnancy complicated by pre-eclampsia with preterm delivery at the 28th week of gestation. A thorough thrombophilia screening confirmed the presence of antiphospholipid antibody. Lupus anticoagulant was present in plasma, measured on two occasions 12 weeks apart. Conclusion: Thrombophilias are inherited or acquired predispositions to vascular thrombosis and have been associated with thrombosis of the arteriovenous fistula. Patients on hemodialysis with recurrent vascular access thrombosis and presence of thrombophilia should be evaluated about the need for anticoagulant therapy with a vitamin K antagonist.


Author(s):  
Neha Agrawal ◽  
Navdeep Ghuman ◽  
Pratibha Singh ◽  
Priyanka Kathuria

The pregnancy is an immunocompromised state. Thus, autoimmune diseases may affect pregnancy and get worsen during pregnancy. Here authors discuss a rare autoimmune thrombophilia disorder, protein C and S deficiency which may cause recurrent pregnancy losses by affecting haemostatic mechanisms in the body. This patient with recurrent pregnancy loss when evaluated extensively was found to have combined inherited protein C and S deficiency. It was successfully managed with thromboprophylaxis therapy, which resulted in the delivery of healthy baby. Long term anticoagulant prophylaxis should be considered weighing the risk of bleeding to thrombotic recurrence in such cases. In conclusion, combined protein C and S deficiency and that too presenting as recurrent pregnancy loss is very rare. Thrombophilia screening should be considered in cases of recurrent pregnancy losses. Adequate and appropriate thromboprophylaxis is an important part of the management of pregnant women with inherited thrombophilia.


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