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Cohen O, Kenet G, Levy-Mendelovich S, Tzoran I, Brenner B, De Ancos C, López-Miguel P, Varona JF, Catella J, Monreal M. Outcomes of venous thromboembolism in patients with inherited thrombophilia treated with direct oral anticoagulants: insights from the RIETE registry. J Thromb Thrombolysis 2024; 57:710-720. [PMID: 38491267 DOI: 10.1007/s11239-024-02957-4] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 02/06/2024] [Indexed: 03/18/2024]
Abstract
While direct oral anticoagulants (DOACs) are frequently used to treat venous thromboembolism (VTE), the outcomes of patients with inherited thrombophilia (IT) receiving DOACs for VTE remain understudied. We used data from the international RIETE registry to compare the rates of VTE recurrences, major bleeding, and mortality during anticoagulant treatment in VTE patients with and without IT, grouped by the use of DOACs or standard anticoagulant therapy. Among 103,818 enrolled patients, 21,089 (20.3%) were tested for IT, of whom 8422 (39.9%) tested positive: Protein C deficiency 294, Protein S deficiency 726, Antithrombin deficiency 240, Factor V Leiden 2248, Prothrombin gene mutation 1434, combined IT 3480. Overall, 14,189 RIETE patients (6.2% with IT) received DOACs, and 89,629 standard anticoagulation (8.4% with IT), mostly with heparins followed by vitamin K antagonists. Proportions of patients receiving DOACs did not differ between IT-positive and IT-negative patients. Rates of VTE recurrence on anticoagulant treatment were highest in patients with AT deficiency (P < 0.01). Rates of on-treatment major bleeding and all-cause mortality were lowest among patients with Factor V Leiden (FVL) or PT G20210A mutations, compared with patients who tested negative. Patients with IT who received DOACs had lower rates of major bleeding than those receiving standard anticoagulation. Excluding FVL and Protein S deficiency, patients with IT had lower rates of VTE recurrence with DOACs than with standard anticoagulation. DOACs are equally safe and effective in VTE patients with IT, with lower bleeding rates than those on standard anticoagulation.
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Affiliation(s)
- Omri Cohen
- National Hemophilia Center & Institute of Thrombosis & Hemostasis, Sheba Medical Center, Tel Hashomer, Derech Sheba 2, 52621, Ramat Gan, Israel.
- Amalia Biron Research Institute of Thrombosis and Hemostasis, School of Medicine, Tel Aviv University, Tel Aviv, Israel.
- Department of Medicine and Surgery, University of Insubria, Varese, Italy.
| | - Gili Kenet
- National Hemophilia Center & Institute of Thrombosis & Hemostasis, Sheba Medical Center, Tel Hashomer, Derech Sheba 2, 52621, Ramat Gan, Israel
- Amalia Biron Research Institute of Thrombosis and Hemostasis, School of Medicine, Tel Aviv University, Tel Aviv, Israel
| | - Sarina Levy-Mendelovich
- National Hemophilia Center & Institute of Thrombosis & Hemostasis, Sheba Medical Center, Tel Hashomer, Derech Sheba 2, 52621, Ramat Gan, Israel
- Amalia Biron Research Institute of Thrombosis and Hemostasis, School of Medicine, Tel Aviv University, Tel Aviv, Israel
| | - Inna Tzoran
- Department of Hematology and Bone Marrow Transplantation, Rambam Healthcare Campus, Haifa, Israel
| | - Benjamin Brenner
- Department of Hematology and Bone Marrow Transplantation, Rambam Healthcare Campus, Haifa, Israel
| | - Cristina De Ancos
- Department of Internal Medicine, Hospital Universitario de Fuenlabrada, Madrid, Spain
| | - Patricia López-Miguel
- Department of Pneumonology, Hospital General Universitario de Albacete, Albacete, Spain
| | - José F Varona
- Department of Internal Medicine, Hospital Universitario HM Montepríncipe, HM Hospitales, Boadilla del Monte, Madrid, Spain
| | - Judith Catella
- Department of Internal Medicine, Hôpital Édouard Herriot, Lyon, France
| | - Manuel Monreal
- Faculty of Health Sciences, Universidad Católica San Antonio de Murcia (UCAM), El Centro de Investigación Biomédica en Red Enfermedades Respiratorias (CIBERS), Madrid, Spain
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Chang T, Yang YL, Gao L, Li LH. Cerebral venous sinus thrombosis following transsphenoidal surgery for craniopharyngioma: A case report. World J Clin Cases 2020; 8:1158-1163. [PMID: 32258087 PMCID: PMC7103970 DOI: 10.12998/wjcc.v8.i6.1158] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/21/2019] [Revised: 03/10/2020] [Accepted: 03/14/2020] [Indexed: 02/05/2023] Open
Abstract
BACKGROUND Cerebral venous sinus thrombosis (CVST) is a rare condition in patients with craniopharyngioma following transsphenoidal surgery.
CASE SUMMARY A 56-year-old man who underwent transsphenoidal surgery for craniopharyngioma 26 d ago presented gradual headache and cerebrospinal fluid leakage while vomiting 5 d post-discharge and required readmission to our department of neurosurgery. After admission, head imaging examination showed a hyperdense shadow in the superior sagittal sinus and right transverse sinus, edema at the bilateral parietal lobe, and hemorrhage at the left parietal lobe and right occipital lobe; the venous phase of cerebral angiography revealed CVST. The patient was treated immediately by intravenous thrombolysis, endovascular thrombolysis, and mechanical thrombectomy after the definite diagnosis. However, the neurological status of the patient continued to deteriorate and he died on the fourth day after readmission.
CONCLUSION For craniopharyngioma undergoing transsphenoidal surgery, it is vital to take an effective strategy to manage the postoperative complications, such as diabetes insipidus, severe electrolyte imbalance, and cerebrospinal fluid leakage. Additionally, the early differential diagnosis of CVST is essential when it develops clinical symptoms, especially in patients following transsphenoidal surgery with a high risk of CVST. Subsequently, the timely and effective treatment of the CVST is critical for preventing neurological deterioration.
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Affiliation(s)
- Tao Chang
- Department of Emergency Medicine, Second Affiliated Hospital of Air Force Medical University, Xi’an 710038, Shaanxi Province, China
| | - Yan-Long Yang
- Department of Emergency Medicine, Second Affiliated Hospital of Air Force Medical University, Xi’an 710038, Shaanxi Province, China
| | - Li Gao
- Department of Neurosurgery, Second Affiliated Hospital of Air Force Medical University, Xi’an 710038, Shaanxi Province, China
| | - Li-Hong Li
- Department of Emergency Medicine, Second Affiliated Hospital of Air Force Medical University, Xi’an 710038, Shaanxi Province, China
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Saadatnia M, Salehi M, Movahedian A, Shariat SZS, Salari M, Tajmirriahi M, Asadimobarakeh E, Salehi R, Amini G, Ebrahimi H, Kheradmand E. Factor V Leiden, factor V Cambridge, factor II GA20210, and methylenetetrahydrofolate reductase in cerebral venous and sinus thrombosis: A case-control study. JOURNAL OF RESEARCH IN MEDICAL SCIENCES 2015; 20:554-62. [PMID: 26600830 PMCID: PMC4621649 DOI: 10.4103/1735-1995.165956] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Indexed: 12/17/2022]
Abstract
Background: Factor V G1691A (FV Leiden), FII GA20210, and methylenetetrahydrofolate reductase (MTHFR) C677T mutations are the most common genetic risk factors for thromboembolism in the Western countries. However, there is rare data in Iran about cerebral venous and sinus thrombosis (CVST) patients. The aim of this study was to evaluate the frequency of common genetic thrombophilic factors in CVST patients. Materials and Methods: Forty consequently CVST patients from two University Hospital in Isfahan University of Medical Sciences aged more than 15 years from January 2009 to January 2011 were recruited. In parallel, 51 healthy subjects with the same age and race from similar population selected as controls. FV Leiden, FII GA20210, MTHFR C677T, and FV Cambridge gene mutations by polymerase chain reaction technique were evaluated in case and control groups. Results: FV Leiden, FII GA20210, and FV Cambridge gene mutations had very low prevalence in both case (5%, 2%, 0%) and control (2.5%, 0%, 0%) and were not found any significant difference between groups. MTHFR C677T mutations was in 22 (55%) of patients in case group and 18 (35.5%) of control group (P = 0.09). Conclusion: This study showed that the prevalence of FV Leiden, FII GA20210, and FV Cambridge were low. Laboratory investigations of these mutations as a routine test for all patients with CVST may not be cost benefit.
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Affiliation(s)
- Mohammad Saadatnia
- Department of Neurology, Isfahan Neurosciences Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
| | - Mansour Salehi
- Department of Genetic, Isfahan University of Medical Sciences, Isfahan, Iran
| | - Ahmad Movahedian
- Department of Pharmacology, School of Pharmacy and Pharmaceutical Sciences and Isfahan Pharmaceutical Sciences Research Center, Isfahan, Iran
| | - Seyed Ziaeddin Samsam Shariat
- Department of Pharmacology, School of Pharmacy and Pharmaceutical Sciences and Isfahan Pharmaceutical Sciences Research Center, Isfahan, Iran
| | - Mehri Salari
- Department of Neurology, Isfahan Neurosciences Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
| | - Marzieh Tajmirriahi
- Department of Neurology, Isfahan Neurosciences Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
| | - Elham Asadimobarakeh
- Department of Neurology, Isfahan Neurosciences Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
| | - Rasoul Salehi
- Department of Genetic, Isfahan University of Medical Sciences, Isfahan, Iran
| | - Gilda Amini
- Department of Genetic, Isfahan University of Medical Sciences, Isfahan, Iran
| | - Homa Ebrahimi
- Department of Neurology, Islamic Azad University, Najafabad Branch, Najafabad, Isfahan, Iran
| | - Ehsan Kheradmand
- Department of Neurology, Isfahan Neurosciences Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
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Saadatnia M, Fatehi F, Basiri K, Mousavi SA, Mehr GK. Cerebral venous sinus thrombosis risk factors. Int J Stroke 2009; 4:111-23. [PMID: 19383052 DOI: 10.1111/j.1747-4949.2009.00260.x] [Citation(s) in RCA: 69] [Impact Index Per Article: 4.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/26/2022]
Abstract
Cerebral venous sinus thrombosis is an uncommon disease marked by clotting of blood in cerebral venous, or dural sinuses, and, in rare cases, cortical veins. It is a rare but potentially fatal cause of acute neurological deterioration previously related to otomastoid, orbit, and central face cutaneous infections. After the advent of antibiotics, it is more often related to neoplasm, pregnancy, puerperium, systemic diseases, dehydration, intracranial tumors, oral contraceptives, and coagulopathies are the most common causes, but in 30% of cases no underlying etiology can be identified. It has been found in association with fibrous thyroiditis, jugular thrombosis after catheterization, or idiopathic jugular vein stenosis. Other factors include surgery, head trauma, arterio-venous malformations, infection, paraneoplastic, and autoimmune disease. This article presents a comprehensive review of cerebral venous sinus thrombosis etiologies.
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Affiliation(s)
- Mohammad Saadatnia
- Neurology Department, Isfahan University of Medical Sciences, Isfahan, Iran
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Unal O, Deda G, Teber S, Ertem M, Akar N. Thrombophilic risk factors in epileptic children treated with valproic Acid. Pediatr Neurol 2009; 40:102-6. [PMID: 19135623 DOI: 10.1016/j.pediatrneurol.2008.10.005] [Citation(s) in RCA: 10] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/12/2008] [Revised: 10/06/2008] [Accepted: 10/13/2008] [Indexed: 10/21/2022]
Abstract
There are few reports on valproic acid related to thrombophilia. Thrombophilic risk factors were investigated in 21 children (age range, 1-13 years) diagnosed with epilepsy and newly treated with valproic acid monotherapy. None of the children had been previously treated with any anticonvulsant agent. Before starting valproic acid therapy, homocysteine, lipoprotein(a), factor VIII, factor IX, protein C, protein S, antithrombin III levels, and activated protein C resistance levels were evaluated in all patients, with repeat evaluation after 9 months or 1 year of the therapy. Thrombosis gene mutations (factor V Leiden and prothrombin G20210A) were also evaluated in all patients before therapy. There was statistically significant elevation in lipoprotein(a) levels and reduction in fibrinogen levels after treatment. Reduction in protein C levels and elevation in homocysteine levels were also observed, but without statistical significance. Before therapy, no thrombotic event had occurred, despite thrombotic risk factors in some patients. Valproic acid can increase lipoprotein(a) and decrease fibrinogen, which may increase the risk of stroke or other thrombotic events. No clinical adverse effects resulted from changes in the levels or activity of thrombophilic factors associated with valproic acid treatment. Thus, routine investigation of factors implicated in thrombosis prior to initiation of valproic acid is not warranted for all patients. Nonetheless, caution is advised when initiating valproic acid treatment in children who have had prior stroke or thrombotic events.
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Affiliation(s)
- Ozlem Unal
- Department of Pediatric Neurology, Medicine Faculty, Ankara University, Ankara, Turkey.
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Mahé E, Girszyn N, Hadj-Rabia S, Bodemer C, Hamel-Teillac D, De Prost Y. Subcutaneous fat necrosis of the newborn: a systematic evaluation of risk factors, clinical manifestations, complications and outcome of 16 children. Br J Dermatol 2007; 156:709-15. [PMID: 17493069 DOI: 10.1111/j.1365-2133.2007.07782.x] [Citation(s) in RCA: 65] [Impact Index Per Article: 3.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/30/2022]
Abstract
BACKGROUND Subcutaneous fat necrosis (SFN) of the newborn is a rare acute transient hypodermatitis that develops within the first weeks of life in term infants. It often follows a difficult delivery. Prognosis is generally good except for the development of hypercalcaemia in severe cases. Only several case reports or small patients series have been published. OBJECTIVES To evaluate risk factors, complications and outcomes of SFN in 16 consecutive patients seen from 1996 to 2002 in our Department of Paediatric Dermatology. METHODS On a case-report form created for the study, we recorded putative risk factors concerning the mother, pregnancy and delivery, clinical aspects of SFN, and early and late outcomes. The study was conducted in two stages: the first was a retrospective analysis of the observations and the second analysed data collected on children and their parents during a new consultation (n=10). RESULTS All the children were born at term. Lesions appeared a mean of 4 days after delivery. Three-quarters of the children had diffuse SFN. Risk factors identified were newborn failure to thrive (12/16), forceps delivery (7/16), maternal high blood pressure (3/10) and/or diabetes (2/10), and newborn cardiac surgery (1/16). Putative novel risk factors were macrosomia (7/16), exposure to active (4/10) or passive (3/10) smoking during pregnancy, putative or known maternal, paternal or newborn risk factors for thrombosis (5/10), and dyslipidaemia (2/10). Complications were hypercalcaemia (9/16), pain (4/16), dyslipidaemia (1/16), renal insufficiency (1/16) and late subcutaneous atrophy (6/6). CONCLUSIONS This study on 16 newborns with SFN provides new information. Familial or newborn risk factors for thrombosis are frequent. Macrosomia, familial dyslipidaemia and smoking should be evaluated. The main complications identified were severe pain, hypercalcaemia and subcutaneous atrophy.
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Affiliation(s)
- E Mahé
- Department of Dermatology, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
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Sogawa Y, Libman R, Eviatar L, Kan L. Pulsatile tinnitus in a 16-year-old patient. Pediatr Neurol 2005; 33:214-6. [PMID: 16139739 DOI: 10.1016/j.pediatrneurol.2005.03.012] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/26/2004] [Revised: 11/19/2004] [Accepted: 03/16/2005] [Indexed: 11/21/2022]
Abstract
This report describes a child presenting with pulsatile tinnitus, most likely resulting from increased intracranial hypertension secondary to cerebral venous thrombosis. He was found to be homozygous for a prothrombin gene (G20210A) mutation as well as heterozygous for a factor V Leiden mutation. Physicians need to pursue and determine the cause of pulsatile tinnitus and intracranial hypertension.
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Affiliation(s)
- Yoshimi Sogawa
- Division of Pediatric Neurology, Schneider Children's Hospital, New Hyde Park, New York 11040, USA
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Ortín X, Ugarriza A, Escoda L, Mesa R. Mutación del gen de la protrombina (G20210A) en un paciente con trombosis de senos venosos cerebrales y trombosis venosa profunda bilateral. Med Clin (Barc) 2004; 122:158. [PMID: 14967101 DOI: 10.1016/s0025-7753(04)74178-0] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/21/2022]
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