Familial thrombophilia associated with fibrinogen Paris V: Dusart syndrome

Blood ◽  
2000 ◽  
Vol 96 (3) ◽  
pp. 1191-1193 ◽  
Author(s):  
Takashi Tarumi ◽  
Danko Martincic ◽  
Anne Thomas ◽  
Robert Janco ◽  
Mary Hudson ◽  
...  

Abstract We report on a family with a history of venous thromboembolism associated with fibrinogen Paris V (fibrinogen A-Arg554→Cys). Ten members experienced thrombotic events, including 4 with fatal pulmonary emboli. Pulmonary embolism was the presenting feature in 4. Those with the mutation and a history of thrombosis had somewhat higher fibrinogen concentrations than those with the mutation and no thrombosis (294 ± 70 mg/dL vs 217 ± 37 mg/dL, respectively). The Paris V mutation consistently caused a prolongation of the reptilase time, and fibrin clots containing the abnormal fibrinogen were more translucent than normal clots. Given the early onset of symptoms and the initial presentation with pulmonary embolism in some family members, it was justifiable to offer prophylactic anticoagulation with warfarin to carriers of the mutation. Fibrinogen Paris V has now been reported in 4 apparently unrelated families, indicating that it is a relatively common cause of dysfibrinogenemia-associated thrombosis.

Blood ◽  
2000 ◽  
Vol 96 (3) ◽  
pp. 1191-1193
Author(s):  
Takashi Tarumi ◽  
Danko Martincic ◽  
Anne Thomas ◽  
Robert Janco ◽  
Mary Hudson ◽  
...  

We report on a family with a history of venous thromboembolism associated with fibrinogen Paris V (fibrinogen A-Arg554→Cys). Ten members experienced thrombotic events, including 4 with fatal pulmonary emboli. Pulmonary embolism was the presenting feature in 4. Those with the mutation and a history of thrombosis had somewhat higher fibrinogen concentrations than those with the mutation and no thrombosis (294 ± 70 mg/dL vs 217 ± 37 mg/dL, respectively). The Paris V mutation consistently caused a prolongation of the reptilase time, and fibrin clots containing the abnormal fibrinogen were more translucent than normal clots. Given the early onset of symptoms and the initial presentation with pulmonary embolism in some family members, it was justifiable to offer prophylactic anticoagulation with warfarin to carriers of the mutation. Fibrinogen Paris V has now been reported in 4 apparently unrelated families, indicating that it is a relatively common cause of dysfibrinogenemia-associated thrombosis.


2018 ◽  
Vol 36 (9) ◽  
pp. 1550-1554 ◽  
Author(s):  
Christopher Kelly ◽  
Chad Agy ◽  
Margaret Carlson ◽  
Jacob Steenblik ◽  
Joseph Bledsoe ◽  
...  

2015 ◽  
Vol 113 (02) ◽  
pp. 406-413 ◽  
Author(s):  
Paul L. den Exter ◽  
Inge C. M. Mos ◽  
Menno V. Huisman ◽  
Frederikus A. Klok ◽  
Maria José Fabiá Valls ◽  
...  

SummaryDiagnostic management of suspected pulmonary embolism (PE) in patients with a history of venous thromboembolism (VTE) is complicateddue to persistent abnormal D-dimer levels, residual embolic obstruction and higher clinical prediction rule (CPR) scores. We aimed to evaluate the safety and efficiency of the standard diagnostic algorithm consisting of a CPR, D-dimer test and computed tomography pulmonary angiography (CTPA) in this specific patient category. We performed a systematic literature search for prospective studies evaluating a diagnostic algorithm in consecutive patients with clinically suspected PE and a history of VTE. The VTE incidence rates during three-month follow-up and the number of indicated CTPAs were pooled using random effect models. Four studies concerning 1,286 patients were included with a pooled baseline PE prevalence of 36 % (95 % confidence interval [CI] 30–42). In only 217 patients (15 %; 95 %CI 11–20) PE could be excluded without CTPA. The three-month VTE incidence rate was 0.8 % (95 %CI 0.06–2.4) in patients managed without CTPA, 1.6 % (95 %CI 0.3–4.0) in patients in whom PE was excluded by CTPA and 1.4 % (95 %CI 0.6–2.7) overall. In the pooled studies, PE was safely excluded in patients with a history of VTE based on a CPR followed by a D-dimer test and/or CTPA, although the efficiency of the algorithm is relatively low compared to patients without a history of VTE.


2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Peter V. Bui ◽  
Maan Moualla ◽  
Dona J. Upson

Introduction.3,3′-Diindolylmethane is available as a supplement in the United States for “cancer prevention” and “augmentation of physical fitness.” A derivative of indole-3-carbinol found in plants, diindolylmethane, binds to receptors associated with the sex steroid pathways and has unclear effects on estrogen and androgen physiology. We present a patient who had been taking diindolylmethane and developed right lower extremity deep venous thrombosis and bilateral pulmonary embolism.Case Presentation.A 65-year-old man presented with swelling, erythema, and warmth of his right lower extremity for three to four weeks. He had been taking diindolylmethane one tablet daily for three to four months. Risk factors for venous thromboembolism included tobacco use, personal history of possible pulmonary embolism, body mass index, and age. Imaging studies found extensive deep venous thrombosis in his right lower extremity and bilateral pulmonary embolism with probable right middle lobe infarction. Follow-up imaging showed chronic deep venous thrombosis in his right lower extremity.Discussion.As suggested in this single case, patients who take diindolylmethane may be at greater risk for venous thromboembolism. Further reports and studies are necessary in order to elucidate this possible association. Clinicians should question patients about supplements in the setting of venous thromboembolism.


2012 ◽  
Vol 2012 ◽  
pp. 1-4
Author(s):  
Aibek E. Mirrakhimov ◽  
Farah N. Khan

We present a case of early onset pancreatic cancer related extra-axial brain metastases. A 46-year-old Caucasian non-Jewish nonobese male with a history of PC diagnosed 3 months ago with metastases to the liver, omentum, malignant ascites, and a history of a pulmonary embolism was admitted to the hospital because of a new onset headache, nausea, and vomiting which started 2 days prior to the encounter. Brain MRI was ordered, which showed acute bihemispheric subdural hematomas and left hemispheric extra-axial heterogeneously enhancing lesions consisting with metastatic disease. The patient was started on ondansentron, metoclopramide, and dexamethasone. The cranial irradiation was started, and the patient’s headache and nausea significantly improved. There are only 9 published reports of extra-axial brain metastases related to the pancreatic cancer, whereas our paper is the first such case reported on a patient with epidural metastases and early onset pancreatic cancer.


2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Yasser Sakr ◽  
Manuela Giovini ◽  
Marc Leone ◽  
Giacinto Pizzilli ◽  
Andreas Kortgen ◽  
...  

Abstract Background Preliminary reports have described significant procoagulant events in patients with coronavirus disease-2019 (COVID-19), including life-threatening pulmonary embolism (PE). Main text We review the current data on the epidemiology, the possible underlying pathophysiologic mechanisms, and the therapeutic implications of PE in relation to COVID-19. The incidence of PE is reported to be around 2.6–8.9% of COVID-19 in hospitalized patients and up to one-third of those requiring intensive care unit (ICU) admission, despite standard prophylactic anticoagulation. This may be explained by direct and indirect pathologic consequences of COVID-19, complement activation, cytokine release, endothelial dysfunction, and interactions between different types of blood cells. Conclusion Thromboprophylaxis should be started in all patients with suspected or confirmed COVID-19 admitted to the hospital. The use of an intermediate therapeutic dose of low molecular weight (LMWH) or unfractionated heparin can be considered on an individual basis in patients with multiple risk factors for venous thromboembolism, including critically ill patients admitted to the ICU. Decisions about extending prophylaxis with LMWH after hospital discharge should be made after balancing the reduced risk of venous thromboembolism (VTE) with the risk of increased bleeding events and should be continued for 7–14 days after hospital discharge or in the pre-hospital phase in case of pre-existing or persisting VTE risk factors. Therapeutic anticoagulation is the cornerstone in the management of patients with PE. Selection of an appropriate agent and correct dosing requires consideration of underlying comorbidities.


F1000Research ◽  
2019 ◽  
Vol 8 ◽  
pp. 182
Author(s):  
Jeyhan Dhabhar ◽  
Varshil Mehta ◽  
Nimit Desai ◽  
Sameer Dawoodi ◽  
Sojib Bin Zaman

A 24-year-old male was presented to us with sudden onset of chest pain and dyspnea for the past one hour. There was no history of calf pain, trauma, surgery, prolonged immobilization, long-haul air travel, bleeding diathesis or any other co-morbidity. The patient denied any addiction history. The Electrocardiogram showed tachycardia with S1Q3T3 pattern. The left arterio-venous Doppler study was suggestive of a thrombus in popliteal vein and sapheno-popliteal junction. The CT-Pulmonary Angiogram scan was suggestive of a massive pulmonary thromboembolism. The patient was thrombolysed with Intravenous Alteplase immediately and was put on tab Rivaroxaban for maintenance. He was later discharged after being stable. Unprovoked venous thromboembolism (VTE) is very rare and has the potential to lead to pulmonary embolism which could be disastrous, especially in young adults. We present such a case where unprovoked VTE was diagnosed and treated. This case suggests that high clinical suspicion is the key for the diagnosis of acute pulmonary embolism, especially in the absence of history suggestive of deep vein thrombosis.


Author(s):  
Terry Robinson ◽  
Jane Scullion

A pulmonary embolism (PE) is a clinically significant obstruction occurring in part of or the entire pulmonary vascular tree. The most common cause is a thrombus from a distant site such as the leg. Most pulmonary emboli originate from detached portions of venous thrombi that have formed in the deep veins of the lower limbs. Other sites where they form include the right side of the heart and the pelvis. Non-thrombotic emboli, mainly fat, air, and amniotic fluid, may also occur but these are rarer. This chapter provides an overview of incidence and aetiology, and tabulates the risk factors for PE. The clinical features and assessment are covered, and six different investigations are explained. Management—anticoagulants, thrombolysis, and high-flow oxygen—are also included, along with nurse involvement at different points of PE.


2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
Ginius Pradhan ◽  
Khaldoon Shaheen ◽  
Mary Muoneke ◽  
Basel Altaqi

The triad of extrapulmonary infection, contiguous septic vein thrombosis, and septic pulmonary embolism is a rare complex but associated with significant morbidity and mortality. Septic azygos vein thrombosis is extremely rare and potentially serious since it may also cause pulmonary emboli and sudden death. We report a case of a 32-year-old woman with history of IV drug abuse who presented with epidural abscess and methicillin-resistantS. aureus(MRSA) bacteremia. Later she developed signs of septic pulmonary embolism secondary to septic azygos vein thrombosis. With early diagnosis, appropriate antimicrobial therapy, and control of the infectious source, resolution of the illness can be expected for most patients with avoidance of potential complications.


2021 ◽  
Vol 14 (7) ◽  
pp. e243975
Author(s):  
Bilal Malik ◽  
Atefeh Kalantary ◽  
Kamal Rikabi ◽  
Arvind Kunadi

As with past illnesses, an approach has been taken to vaccinate the population and halt the spread of COVID-19. On 13 April 2021, the US Food and Drug Administration called for a halt in the administration of the Johnson & Johnson (J&J) COVID-19 vaccine due to reports of thrombosis and thrombocytopenia being associated with vaccination. We present the case of a 43-year-old woman with a history of dyslipidaemia, depression, gastro-oesophageal reflux disease and obesity presenting with dyspnoea, headache and light headedness of 3 days’ duration. Ten days prior, she had received the J&J COVID-19 vaccine. She was found to have thrombocytopenia, elevated D-dimers, pulmonary emboli and presented 1 day after discharge with an arterial clot despite being on apixaban. Six other US-based cases of venous thrombotic events are being reviewed at present. Patients should be informed of the possibility of such events to provide informed consent.


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