scholarly journals Mutation in the Prothrombin Gene G20210A as a Cause of Cerebral Venous Thrombosis

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Jorge A. Arroyave ◽  
Jairo Quiñones

Introduction. Cerebral venous sinus thrombosis (CVST) is a rare form of cerebrovascular disease, which may manifest clinically by a wide variety of signs and symptoms. It has been associated with multiple risk factors including genetic or acquired blood disorders, infections, and trauma.Case Report. Man of 17 years who presented with 10 days of intense global headache with nausea and vomiting and subsequent onset of mild hemiparesis and hypoesthesia in right hemibody. Studies show venous thrombosis of the superior longitudinal sinus. It was identified a gene mutation in prothrombin G20210A as a probable cause of the thrombosis.Conclusions. Substitution of guanine for adenine at nucleotide 20210 in the coding region of the prothrombin gene is the second most common primary thrombophilia. Multiple cases of CVST have been associated with this mutation. In the presence of CVST must be considered the primary studies for thrombophilia gene mutations, including prothrombin G20210A.

Author(s):  
Dustin Anderson ◽  
Julie Kromm ◽  
Thomas Jeerakathil

AbstractBackground: Cerebral venous thrombosis is a rare cause of stroke, with a number of well-defined risk factors. However, there exist few studies that describe trends in the prognosis of this disease over time. Methods: A retrospective study was performed on patients diagnosed with cerebral venous thrombosis at the University of Alberta Hospital during two time periods: 1988-1998 (21 patients) and 1999-2009 (40 patients). Signs and symptoms, risk factors, imaging findings, etiologies, treatment modalities, and status at discharge were examined. Results: Headache, nausea and vomiting, focal motor deficit, and seizure were the most common signs and symptoms, and active hormonal contraception was the most commonly identified risk factor between the two cohorts. Hematoma and hyperdense sinuses were the most commonly identified CT findings between groups. Thrombophilia and the use of hormonal contraception were the most frequently identified etiologies between the two cohorts. Treatment was similar, with the majority of patients in both cohorts receiving unfractionated heparin as first-line therapy. Patients in the 1999-2009 cohort were significantly less likely to have a severe deficit or be dead at discharge (odds ratio [OR]=0.178; 95% confidence interval [CI95%]=0.051, 0.625) and were more likely to have a favorable modified Rankin Scale score of 0 or 1 at discharge (OR=7.98; CI95%=1.79, 35.71). Conclusions: Our data indicate a reduction in severe residual symptoms at discharge and improved functional status at discharge for patients presenting with cerebral venous thrombosis from 1999 to 2009, as compared with 1988-1998.


Author(s):  
Mayank Tyagi ◽  
Surya K. Dube ◽  
Vanitha Rajagopalan ◽  
Gyaninder P. Singh

Abstractβ-thalassemia are a group of inherited blood disorders with reduced hemoglobin levels. β-thalassemia major is the severe form of disease, and the patients often display an array of associated organ dysfunction which thus increase the risk associated with surgery and anesthesia. Patients with β-thalassemia major can have multiple pathological defects that may lead to thromboembolic events. Here, we report such a case who was complicated by occurrence of cerebral sinus thrombosis and presented for decompressive hemicraniectomy under general anesthesia. The anesthetic challenges during in such scenario have been discussed.


2020 ◽  
Vol 2020 ◽  
pp. 1-8
Author(s):  
Derya Uluduz ◽  
Sevki Sahin ◽  
Taskin Duman ◽  
Serefnur Ozturk ◽  
Vildan Yayla ◽  
...  

Background. Early diagnosis of cerebral venous sinus thrombosis (CVST) associated with reproductive health-related risk factors (RHRF) including pregnancy, puerperium, and oral contraceptive (OC) use can prevent severe neurological sequelae; thus, the symptoms must be documented in detail for each group. Methods. Out of 1144 patients with CVST, a total of 777 women were enrolled from a multicenter for the study of cerebral venous sinus thrombosis (VENOST). Demographic, biochemical, clinical, and radiological aspects were compared for 324 cases with RHRF and 453 cases without RHRF. Results. The mean age of the RHRF (-) group (43.2 ± 13 years) was significantly higher than of the RHRF (+) group (34±9 years). A previous history of deep venous thrombosis (3%), isolated cavernous sinus involvement (1%), cranial neuropathy (13%), comorbid malignancy (7%), and its disability scores after 12 months (9%) were significantly higher in the RHRF (-) group. The RHRF (+) group consisted of 44% cases of puerperium, 33% cases of OC users and 23% of pregnant women. The mean age was found to be higher in OC users (38±9 years). A previous history of deep venous thrombosis was slightly higher in the pregnancy subgroup (4%). Epileptic seizures were more common in the puerperium group (44%). Conclusion. The results of our study indicate that the risk of CSVT increases parallel to age, OC use, and puerperium period. In addition, when considering the frequency of findings and symptoms, epileptic seizures in the puerperium subgroup of the RHRF (+) group and malignancies in the RHRF (-) group may accompany the CSVT. In daily practice, predicting these risks for the CSVT and early recognition of the symptoms will provide significant benefits to patients.


2019 ◽  
Vol 7 (6) ◽  
pp. 1029-1031 ◽  
Author(s):  
Abdullah M. Al Zahrani ◽  
Reem Al Sheikh

BACKGROUND: Cerebral venous sinus thrombosis (CVST) is a rare, life-threatening disorder. It has an annual incidence of approximately two to four per million people per year. Nearly 70–80% of all cases of CVST are located in the superior sagittal sinus (SSS). CVST presents a diagnostic challenge due to different presentations. CASE PRESENTATION: We describe the case of a young pregnant female who presented to the emergency room with an acute headache attributed to multifactorial causes. CONCLUSION: This report highlights the importance of including CVST in the differential diagnosis when treating a pregnant female with headaches. Although the symptoms of CVST are varied, the most common occlusion is in the SSS. In such cases, the patient may present with signs and symptoms that include headaches, intracranial hypertension and papilloedemas.


2001 ◽  
Vol 86 (09) ◽  
pp. 800-803 ◽  
Author(s):  
Cristina Legnani ◽  
Paolo Bucciarelli ◽  
Elvira Grandone ◽  
Valerio De Stefano ◽  
Pier Mannuccio Mannucci ◽  
...  

SummaryHomozygous carriers of factor V Leiden have an approximately 80-fold increased risk of venous thrombosis. Also double heterozygous carriers of both the factor V Leiden and the prothrombin gene mutations are at high thrombotic risk. The magnitude of the risk of venous thrombosis in pregnant women with the two severe thrombophilic conditions has not been estimated so far. We performed a multicenter retrospective family study in women with homozygous factor V Leiden, double heterozygous factor V Leiden and the prothrombin gene mutation, and women with normal coagulation. Only relatives of index patients with thrombosis formed the study cohort. Fifteen homozygous and 39 double heterozygous women were compared to 182 women with normal coagulation. Venous thrombosis occurred in 3 of 19, 2 of 50 and 1 of 221 pregnancies, respectively. One thrombotic episode occurred in the third trimester, the remaining 5 in the postpartum. The prevalence of venous thrombosis was 15.8% (95% CI 3.4-39.6) for homozygotes, 4.0% (95% CI 0.5-13.7) for double heterozygotes and 0.5% for women with normal coagulation. The relative risk of pregnancy-related venous thrombosis was 41.3 (95% CI 4.1-419.7) for homozygous and 9.2 (95% CI 0.8-103.2) for double heterozygous carriers. In conclusion, homozygous carriers of factor V Leiden and, to a lesser extent, double heterozygous carriers of factor V Leiden and of the prothrombin mutation have an increased risk of venous thrombosis during pregnancy, particularly high during the postpartum period. On the basis of these findings we recommend that these women receive anticoagulant prophylaxis at least in the postpartum, that should perhaps be extended to the whole pregnancy in homozygous carriers.


2017 ◽  
Vol 08 (04) ◽  
pp. 68-76
Author(s):  
Elyar Sadeghi-Hokmabadi ◽  
Ebrahim Sakhinia ◽  
Mehdi Farhoudi ◽  
Somayyeh Hasaneh ◽  
Morteza Ghojazadeh ◽  
...  

2021 ◽  
Vol 8 ◽  
Author(s):  
Manasa Anipindi ◽  
Amanda Scott ◽  
Li Joyce ◽  
Salman Wali ◽  
Mark Morginstin

Coronavirus disease-2019 is caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2 virus). Coronavirus disease-2019 (COVID-19) was declared a pandemic in March 2020 and has changed our lives in many ways. This infection induces a hypercoagulable state leading to arterial and venous thrombosis, but the exact pathophysiology of thrombosis is unknown. However, various theories have been postulated including excessive cytokine release, endothelial activation, and disseminated intravascular coagulation (DIC). We present a patient diagnosed with cerebral venous sinus thrombosis (CVST) with COVID-19 infection. A 66-year-old man presented to a hospital for evaluation of persistent headaches. He tested positive for COVID-19, and MRI of the brain and CT venogram revealed CVST. He was started on heparin drip in the hospital and transitioned to oral anticoagulants at the time of discharge. His headaches improved with treatment. Even though headache is the most frequent and initial symptom of cerebral venous thrombosis, it is rarely the only symptom. A high index of suspicion is therefore required to diagnose CVST especially if the patient presents with a simple complaint like a headache. Common complaints can delay the diagnosis leading to disease progression. Considering the high mortality rates in patients diagnosed with CVST, we suggest the importance of knowing the association between COVID-19 infection and CVST, especially in susceptible patients.


Tomography ◽  
2021 ◽  
Vol 8 (1) ◽  
pp. 1-9
Author(s):  
Andrea Romano ◽  
Maria Camilla Rossi-Espagnet ◽  
Luca Pasquini ◽  
Alberto Di Napoli ◽  
Francesco Dellepiane ◽  
...  

Cerebral venous sinus thrombosis (CVST) on non-contrast CT (NCCT) is often challenging to detect. We retrospectively selected 41 children and 36 adults with confirmed CVST and two age-matched control groups with comparable initial symptoms. We evaluated NCCT placing four small circular ROIs in standardized regions of the cerebral dural venous system. The mean and maximum HU values were considered from each ROI, and the relative percentage variations were calculated (mean % variation and maximum % variation). We compared the highest measured value to the remaining three HU values through an ad-hoc formula based on the assumption that the thrombosed sinus has higher attenuation compared with the healthy sinuses. Percentage variations were employed to reflect how the attenuation of the thrombosed sinus deviates from the unaffected counterparts. The attenuation of the affected sinus was increased in patients with CVST, and consequently both the mean % and maximum % variations were increased. A mean % variation value of 12.97 and a maximum % variation value of 10.14 were found to be useful to distinguish patients with CVST from healthy subjects, with high sensitivity and specificity. Increased densitometric values were present in the site of venous thrombosis. A systematic, blind evaluation of the brain venous system can assist radiologists in identifying patients who need or do not need further imaging.


2021 ◽  
pp. 102-102
Author(s):  
Aleksandar Kostic ◽  
Danijela Jovancic-Petkovic ◽  
Aleksandra Aracki-Trenkic ◽  
Nebojsa Stojanovic ◽  
Vesna Nikolov

Introduction. Risk factors for thrombotic events in patients receiving treatment for Hodgkin lymphoma are not well known. Administration of some cytostatic medication, especially via central venous catheter, corticosteroids and hyperlipidemia can present some of them. Case outline. A case of a 15-year-old boy that had been newly diagnosed with Hodgkin lymphoma is presented here. Chemotherapy according to vincristine, etoposide, prednisone, and doxorubicin (OEPA) protocol was introduced a month before headache and vomiting occurred, so subsequently, brain- computer tomography (CT) was performed, and reviled laminar subdural pseudo hemorrhage in the right occipital region. After performing magnet resonance imaging (MRI) venous thrombosis of the posterior part of superior sagittal sinus, right transverses and sigmoid sinus were presented. Low-molecular-weight heparin (LMWH) and anti-edematous therapy was immediately initiated. Two weeks later the patient resumed the second cycle of chemotherapy combined with LMWH, as the previous symptoms of intracranial hypertension resolved. Two years after MRI showed almost complete resolution of finding. The boy was in good clinical condition. Conclusion. Although administration of oral corticosteroids, could be rarely a risk factor per se for cerebral sinus venous thrombosis in HL patients, it remains important treatment option. Adequate and prompt diagnostics and therapy are mandatory in cases of wide intracranial venous thrombosis as prevention of possible intracranial hypertension and even fatal outcome.


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