scholarly journals Idiopathic pulmonary embolism in a case of severe family ANKRD26 thrombocytopenia

2017 ◽  
Vol 9 (1) ◽  
pp. e2017038 ◽  
Author(s):  
Jérôme Guison ◽  
Gilles Blaison ◽  
Oana Stoica ◽  
Remy Hurstel ◽  
Marie Favier ◽  
...  
Keyword(s):  
Pulmonary Embolism ◽  
Deep Vein Thrombosis ◽  
Heterozygous Mutation ◽  
Severe Thrombocytopenia ◽  
Factor V ◽  
Vein Thrombosis ◽  
First Case ◽  
History Of ◽  
Fv Leiden ◽  
Deep Vein

Venous thrombosis affecting thrombocytopenic patients is challenging. We report the case of a thrombocytopenic woman affected by deep vein thrombosis and pulmonary embolism leading to the discovery of a heterozygous mutation in the gene encoding ankyrin repeat domain 26 (ANKRD26) associated with a heterozygous factor V (FV) Leiden mutation. This woman was diagnosed with left lower-limb deep vein thrombosis complicated by pulmonary embolism. Severe thrombocytopenia was observed. The genetic study evidenced a heterozygous FV Leiden mutation. Molecular study sequencing was performed after learning that her family had a history of thrombocytopenia. Previously described heterozygous mutation c-127C>A in the 5′ untranslated region (5′UTR) of the ANKRD26 gene was detected in the patient, her aunt, and her grandmother. ANKRD26-related thrombocytopenia and thrombosis are rare. This is, to our knowledge, the first case reported in the medical literature. This mutation should be screened in patients with a family history of thrombocytopenia.

Fibrinolysis in patients with the 1691 G→A mutation in factor V gene and history of deep vein thrombosis

1997 ◽  
Vol 11 (4) ◽  
pp. 201-207 ◽  
Author(s):  
M. Stegnar ◽  
P. Peternel ◽  
P. Uhrin ◽  
T. Cvelbar-Marinko ◽  
K. Goršič-Tomažic ◽  
...  
Keyword(s):  
Deep Vein Thrombosis ◽  
Factor V ◽  
Vein Thrombosis ◽  
History Of ◽  
Factor V Gene ◽  
V Gene ◽  
Deep Vein

Hypofibrinolysis in Patients with a History of Idiopathic Deep Vein Thrombosis and/or Pulmonary Embolism

1992 ◽  
Vol 67 (04) ◽  
pp. 397-401 ◽  
Author(s):  
Vito Grimaudo ◽  
Fedor Bachmann ◽  
Jacques Hauert ◽  
Maria-Adele Christe ◽  
Egbert K O Kruithof
Keyword(s):  
Pulmonary Embolism ◽  
Deep Vein Thrombosis ◽  
Plasminogen Activator ◽  
Fibrinolytic Activity ◽  
Venous Occlusion ◽  
Vein Thrombosis ◽  
Molar Excess ◽  
History Of ◽  
Deep Vein ◽  
Pai 1

SummaryAn impaired fibrinolytic activity after a venous occlusion test is the most common abnormality associated with thomboembolic disease. To better characterize the causes of abnormal responses we have measured different fibrinolytic parameters, before and after 10 and 20 min of venous occlusion, in 77 patients with a history of idiopathic deep vein thrombosis and/or pulmonary embolism and in 38 healthy volunteers.The patients had a lower mean fibrinolytic response to venous occlusion than the controls and higher antigen levels of tissue-type plasminogen activator (t-PA: Ag) and plasminogen activator inhibitor type 1 (PAI-1:Ag). Before venous occlusion, PAI-1 levels were at a molar excess over those of t-PA in all patients and controls. After 20 min of venous occlusion, the release of t-PA from the vascular endothelium resulted in a molar excess of t-PA over PAI-1 in the majority of controls (72%) but only in a minority of patients (39%).To identify patients with fibrinolytic abnormalities, reference intervals (RI) for fibrinolytic activity, t-PA:Ag and PAI-1:Ag were established in healthy controls. None of the patients had low levels of t-PA:Ag, but 17 (22%) had elevated PAI-1:Ag levels before venous occlusion and 12 (16%) exhibited low fibrinolytic activity after 20 min of venous occlusion. Ten of these were among the 17 subjects with high PAI-1: Ag levels before venous occlusion. Thus, the measurement of PAI-1:Ag levels before venous occlusion (i.e. in samples taken without any stimulation) is a sensitive (83%) and specific (89%) assay for the detection of patients with an impaired fibrinolytic response to venous occlusion.

Comparison of the Risk of Pulmonary Embolism and Deep Vein Thrombosis in the Presence of Factor V Leiden or Prothrombin G20210A

2000 ◽  
Vol 83 (02) ◽  
pp. 352-354 ◽  
Author(s):  
J. M. Carreira ◽  
C. R. Alvarez ◽  
J.M. Rodríguez ◽  
M. V. Alvarez ◽  
E. Coto ◽  
...  
Keyword(s):  
Pulmonary Embolism ◽  
Deep Vein Thrombosis ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Vein Thrombosis ◽  
Deep Vein

Abstract TMP74: Stroke And Pulmonary Embolism, Clinical Features, Risk Factors And Outcome

Stroke ◽  
2013 ◽  
Vol 44 (suppl_1) ◽  
Author(s):  
jitphapa pongmoragot ◽  
Alejandro Rabinstein ◽  
Yongchai Nilanont ◽  
Daniel Selchen ◽  
Rick Swartz ◽  
...  
Keyword(s):  
Risk Factors ◽  
Pulmonary Embolism ◽  
Deep Vein Thrombosis ◽  
Length Of Stay ◽  
Predisposing Factors ◽  
P Value ◽  
Stroke Patients ◽  
Vein Thrombosis ◽  
History Of ◽  
Deep Vein

Introduction: Pulmonary embolism (PE) is an uncommon medical complication after stroke. Predisposing factors include deep vein thrombosis (DVT) in patients with hemiplegia or an underlying hypercoagulable state. However, little information is known regarding PE in stroke patients. Objective: We evaluated clinical characteristics, predisposing factors, and outcomes in stroke patients who developed PE. Methods: We included patients with an acute ischemic stroke (AIS) admitted to the participating institutions in the Registry of the Canadian Stroke Network between 2003 to 2008. Pulmonary embolism was diagnosed by nuclear imaging within 30 days of the stroke case index. Demographic data and clinical variables were collected. Logistic regression and survival analyses were completed to determine the association of risk factors with the outcomes of interest. Outcome Measures: primary outcome was death or disability at discharge defined as the modified Rankin scale >3. Secondary outcomes include admission to the Intensive Care Unit, disposition, and length of hospital stay, death at 3 months and at 1 year. Results: Among 11,287 patients with AIS, PE was found in 89 (0.78%) of patients. The development of PE was associated with higher risk of death in 30 days (25.8%vs 13.6%;p <0.001) and 1 year, (47.2% vs 24.6%;p <0.001). Disability was also more common in stroke patients with PE (85.4% vs 63.6% without PE; p <0.001). Mean length of stay was longer in stroke patients with PE (36 vs 16 days; p<0.001). Past medical history of cancer or deep vein thrombosis, history of cardiac arrest or deep vein thrombosis during admission were associated with PE. After adjustment, PE was associated with lower survival at 30 days (p value = 0.0012) and 1 year (p value < 0.0001) (Figures 1 & 2 represent survival function). Conclusions: In this large study, PE occurs in approximately 1% of AIS patients. PE was associated with higher disability, longer length of stay and lower short and long-term survival.

Risk factors associated with symptomatic pulmonary embolism in a large cohort of deep vein thrombosis patients

2005 ◽  
Vol 93 (03) ◽  
pp. 494-498 ◽  
Author(s):  
Nils Kucher ◽  
Victor Tapson ◽  
Samuel Goldhaber ◽  
Keyword(s):  
Pulmonary Embolism ◽  
Deep Vein Thrombosis ◽  
Lung Disease ◽  
Chronic Lung Disease ◽  
Thromboembolic Event ◽  
Vein Thrombosis ◽  
Symptomatic Pulmonary Embolism ◽  
History Of ◽  
And Gender ◽  
Deep Vein

SummaryIn patients with deep vein thrombosis (DVT), the factors which predispose to concomitant symptomatic pulmonary embolism (PE) have remained uncertain. From a prospective cohort of 5,451 consecutive patients with ultrasound-confirmed DVT, we analyzed 4,211 patients with a known status for presence (n =639) or absence (n = 3572) of symptomatic PE. Age and gender were similar in DVT plus PE (63.7±15.6 years; 49% men) and DVT patients (63.4±17.3 years; 46% men). Body mass index (BMI) was higher in patients with DVT plus PE (median 29.0, range 15.4–67.0 kg/m2) than in patients with DVT (median 26.8, range 9.7–64.4 kg/m2; p < 0.001). Chronic lung disease (17% vs. 12%; p < 0.001), a personal history of PE (11% vs. 6%; p < 0.001), and a family history of DVT or PE (8% vs. 4%; p < 0.001) were more frequent in DVT plus PE patients. Twenty-seven percent of DVT plus PE patients received prophylaxis prior to the thromboembolic event compared with 32% of DVT patients (p=0.002). Proximal DVT (OR 1.84, 95% CI 1.39–2.43), prior PE (OR 1.68, 95% CI 1.20–2.35), obesity (BMI > 30 kg/m2) (OR 1.65, 95% CI 1.33–2.04), chronic lung disease (OR 1.51, 95%CI 1.13–2.01), as well as omission of prophylaxis (OR 1.30, 95%CI 1.04–1.64) emerged as independent predictors of concomitant symptomatic PE.

Broadening the factor V Leiden paradox: pulmonary embolism and deep-vein thrombosis as 2 sides of the spectrum

Blood ◽  
2012 ◽  
Vol 120 (5) ◽  
pp. 933-946 ◽  
Author(s):  
Kirsten van Langevelde ◽  
Linda E. Flinterman ◽  
Astrid van Hylckama Vlieg ◽  
Frits R. Rosendaal ◽  
Suzanne C. Cannegieter
Keyword(s):  
Risk Factors ◽  
Pulmonary Embolism ◽  
Deep Vein Thrombosis ◽  
Large Population ◽  
Factor V Leiden ◽  
Chronic Obstructive ◽  
Factor V ◽  
Vein Thrombosis ◽  
Risk Estimates ◽  
Deep Vein

AbstractRisk factors for deep-vein thrombosis have been shown not to be always the same as for pulmonary embolism. A well-known example is the factor V Leiden (FVL) paradox: the FVL mutation poses a clearly higher risk for deep-vein thrombosis (DVT) than for pulmonary embolism. We aimed to expand this paradox and therefore present risk estimates for several established risk factors for DVT and pulmonary embolism separately. When such separate risk estimates could not be retrieved from the literature, we calculated these risks in our own data, a large population-based case-control study on venous thrombosis (the MEGA study). Our results showed that the FVL paradox can be broadened (ie, the risk factors oral contraceptive use, pregnancy, puerperium, minor leg injuries, and obesity have an effect comparable with FVL). Furthermore, we found that pulmonary conditions, such as chronic obstructive pulmonary disease, pneumonia, and sickle cell disease, were risk factors with an opposite effect: a higher risk of pulmonary embolism, but little or no effect on DVT. These findings suggest that pulmonary embolism and DVT may not always have the same etiology, and encourage unraveling this phenomenon in further studies.

scholarly journals Increased deep vein thrombosis cases during the COVID-19 quarantine

2020 ◽  
pp. 026835552097729
Author(s):  
Evren Karaali ◽  
Osman Çiloğlu ◽  
Orhan Saim Demirtürk ◽  
Burak Keklikçioğlu ◽  
İsmail Akçay ◽  
...  
Keyword(s):  
Pulmonary Embolism ◽  
Deep Vein Thrombosis ◽  
Hospital Admissions ◽  
Previous History ◽  
Vein Thrombosis ◽  
Symptomatic Pulmonary Embolism ◽  
Number Of Patients ◽  
Prophylactic Drug ◽  
History Of ◽  
Deep Vein

Objective The aim of this study was to compare the number of deep vein thrombosis (DVT) cases during the quarantine period for COVID-19 to that of the last year. Methods This study was conducted as a single-center and retrospective study. All hospital admissions during April 2020 and May 2020 were screened from the hospital records, and DVT cases were recorded. Likewise, all hospital admissions during April 2019 and May 2019 were screened, and DVT cases were noted. DVT cases of both years were compared. Results Among 480931 patients admitted to our hospital in April 2019 and May 2019, DVT was detected in 82 patients (0.017%) (47 males, 35 females) with a mean age of 56.99 ± 9.1 years (ranges 39 to 79 years). Besides, among 145101 patients admitted to our hospital in April 2020 and May 2020, DVT was detected in 123 patients (0.084%) (51 males, 72 females) with a mean age of 58.64 ± 8.9 years (ranges 40 to 83 years). Despite the decrease in the total number of patients admitted to the hospital, there was a significant increase in the number of DVT patients. Interestingly, there were only two symptomatic pulmonary-embolism cases in the 2019 period, whereas there were seven symptomatic pulmonary embolisms secondary to DVT in the 2020 period. Unfortunately, one patient died due to pulmonary embolism secondary to DVT in 2020. The previous history of DVT was remarkable in patients admitted during the COVID-19 confinement. Conclusion In conclusion, COVID-19 confinement seems to be associated with increased rates of DVT. Strict preventive measures such as exercise training or prophylactic drug use should be considered to prevent immobility-related DVT during the COVID-19 quarantine.

scholarly journals Risk Factor Profiles in Patients with Different Clinical Manifestations of Venous Thromboembolism: A Focus on the Factor V Leiden Mutation

1996 ◽  
Vol 76 (04) ◽  
pp. 510-513 ◽  
Author(s):  
Bert Manten ◽  
Rudi G J Westendorp ◽  
Ted Koster ◽  
Pieter H Reitsma ◽  
Frits R Rosendaal
Keyword(s):  
Pulmonary Embolism ◽  
Deep Vein Thrombosis ◽  
Venous Thromboembolism ◽  
Clinical Manifestations ◽  
Factor V Leiden ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Vein Thrombosis ◽  
Increased Risk ◽  
Deep Vein

Summary Background. Patients with venous thromboembolic disease may present with different clinical manifestations. Factor V Leiden mutation leading to resistance to activated protein C is associated with a sevenfold increased risk for presenting with deep-vein thrombosis. It is not yet established whether carriers of the mutation have a similarly increased risk for manifesting with pulmonary embolism. Methods. From an Anticoagulation Clinic monitoring coumarin therapy, a consecutive series of patients with a first thromboembolic event (objectively proven by current radiological methods) were enrolled. All patients were interviewed and blood was drawn for geno-typing. From the hospital charts and the personal interview, information was obtained on acquired risk factors and the signs and symptoms on hospital admission. Results. 45 patients presented with symptoms of pulmonary embolism only, 211 had only symptoms of deep-vein thrombosis whereas 23 had clinical features of both. In about half of the patients acquired risk factors for venous thromboembolism were present which did not differ between the three groups of patients. Recent surgery had been performed more often in patients presenting with pulmonary embolism than in other patients (33.3% vs. 18.5%, p <0,05). Factor V Leiden was present in 9% of the patients presenting with pulmonary embolism (relative risk: 3.3 95% Cl: 1.0-10.6) and 17% of the patients presenting with deep-vein thrombosis (relative risk: 6.9 95% Cl: 3.6-12.8). The prevalence of factor V Leiden was intermediate in patients with both clinical characteristics. Conclusion. These data suggest that patients with venous thromboembolism have different clinical presentation depending on the risk factor profile. Factor V Leiden may preferentially lead to manifest deep-vein thrombosis. Differences in structure of venous thrombi could underlie differences in embolic tendency.

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