Idiopathic Thrombosis Research Articles

Tromboza venoasă profundă a membrului superior: factori de risc, diagnostic, tratament

Upper extremity deep venous thrombosis is a condition with increasing prevalence, with high risk of morbidity and mortality, due to embolic complications. In the majority of the cases, thrombosis involves more than one venous segment, most frequently being affected the subclavian vein, followed by internal jugular vein, brachiocephalic vein and basilic vein. Upper extremity deep venous thrombosis in patients without risk factors for thrombosis is called primary deep venous thrombosis and includes idiopathic thrombosis and effort thrombosis. Deep venous thrombosis of upper extremity is called secondary when there are known risk factors and it is encountered mainly in older patients, with many comorbidities. The positive diagnosis is established only after paraclinical and imaging investigations, ultrasonography being the most useful diagnostic method. The most important complication, with high risk of death, is pulmonary embolism. Treatment consists in anticoagulant therapy, for preventing thrombosis extension and pulmonary embolism.

Hronična idiopatska Tromboza portne vene - prikaz slučaja

Portal vein thrombosis (PVT) is a rare disorder of splanchnic circulation, frequently caused by concomitant presence of local and/or systemic factors. When portal vein thrombosis complicates causative diseases, it will worsen their prognosis, and in such a case, the causative disease and PVT are treated concomitantly. Despite the fact that PVT frequently complicates liver cirrhosis, intraabdominal malignancies, and some hematological diseases, after all causes are excluded, one can define idiopathic portal vein thrombosis. In this study we have described the case of idiopathic chronical portal vein thrombosis.

Violations of mesenteric blood flow in newborn and young children

Disturbances of mesenteries blood circulations bring to bad course of basic pathology and became the reasons of lethal outcome in 80-100%. The problems are timely revealing of this complication in newborns and infants and adequate treatment of it.The aim of the work was analysis of cases of acute mesenteries ischemia (AMI) in newborns and infants and improvement of their treatment due to comprehensive assessment of clinical, laboratory and instrumental data.Materials and methods : 21 child with different pathology complicated AMI was treated in Odessa Regional Pediatric Hospital from 2010 to 2015.Results :There was Ladd’s syndrome, acute enterocolitis, acute idiopathic thrombosis of mesenteric vessels, antyphospholipid syndrome, thromboembolic of mesenteries veins and isolated torsion of enteral loop. 18 (85,7%) of children were operated on and 8 (38,1%) patients died. Nonocclusive and combined types of AMI prevail in newborns and infants. The stages of AMI: ischemia, infarct of intestine and peritonitis has rapid current without clear clinical signs of every stage. Clinical criteria AMI are development of signs of shock without predictors, decreasing or absence of peristalsis in small signs of intraperitoneal catastrophe. Laboratory criteria of AMI are rapid decreasing of hemoglobin rate without bleeding or hematoma. X-Ray reveals absence of gas in intestine or free gas in system of portal vein. Ultrasound with Doppler assists in early revealing of mesenteric ischemia. Surgical treatment in AMI mast be performed before intestinal infarct develops.

Genetic risk factors in patients with deep venous thrombosis, a retrospective case control study on Iranian population.

BackgroundVenous thromboembolism (VTE) could be manifested as deep venous thrombosis (DVT) or pulmonary embolism (PE). DVT is usually the more common manifestation and is usually formation of a thrombus in the deep veins of lower extremities. DVT could occur without known underlying cause (idiopathic thrombosis) which could be a consequence of an inherited underlying risk factor or could be a consequence of provoking events, such as trauma, surgery or acute illness (provoked thrombosis). Our aim in this study was to assess the impact of some previously reported genetic risk factors including, methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, plasminogen activator inhibitor-1(PAI-1) 4G/5G, prothrombin 20210 and FV Leiden on occurrence of DVT in a population of Iranian patients.MethodsThis long-term study was conducted on 182 patients with DVT and also 250 age and sex matched healthy subjects as control group. The diagnosis of DVT was based on patient’s history, clinical findings, D-dimer test, and confirmed by Doppler ultrasonography. After confirmation of DVT, both groups were assessed for the five mentioned mutations. The relationship between mutations and predisposition to DVT was calculated by using logistic regression and expressed as an OR with a 95 % confidence interval (CI).ResultsOur results revealed that FV Leiden (OR 6.7; 95 % CI = 2.2 to 20.3; P = 0.001), MTHFR C677T (OR 6.0; 95 % CI = 2.2 to 16.4; P < 0.001), MTHFR A1298C (OR 8.3; 95 % CI = 4.4 to 15.8; P < 0.001), and PAI-1 4G/5G (OR 3.8; 95 % CI = 2.1 to 7.2; P < 0.001) mutations were all significantly associated with an increased risk of DVT. Prothrombin 20210 was found in none of the patients and controls.ConclusionOur findings suggest that genetic risk factors have a contributory role on occurrence of DVT.

Portal Cavernoma in the Era of Mesoportal Shunt (Rex) and Liver Transplant in Children.

The mesoportal shunt (MPS) and liver transplantation (LT) have changed the scenario of extrahepatic portal vein obstruction (EHPVO) since the MPS, the only "curative" technique, can now be offered in asymptomatic patients and also thrombotic complications of LT have increased the incidence of EHPVO. A retrospective study of patients undergoing surgery for EHPVO was conducted between 1990 and 2015. An analysis was done for the shunt permeability and clinical evolution over time. Of the 73 children with EHPVO, 39 were operated (12 posttransplant and 27 idiopathic). The median age at surgery was 9.36 years (range, 1.60-17.42 years). The MPS was the technique of choice; it was offered in 21 patients but eventually could be performed in only 18 (9 posttransplant and 9 idiopathic). The results of MPS were better in idiopathic (just one thrombosis successfully converted into mesocaval bypass). In the MPS after LT (n = 9), six shunts are permeable, two became thrombotic (one patient requiring retransplantation), and one late thrombosis occurred and the patient died eventually because of gastrointestinal bleeding. In the remaining patients (21 out of the 39), MPS was not performed because of intrahepatic cavernoma, portal vein hypoplasia, or insufficient length of vascular graft (especially in left lateral segment graft LT, since the portal vein is usually located in the right upper quadrant). They underwent 10 distal splenorenal shunts (DSRS) (1 posttransplant and 9 idiopathic), 5 proximal splenorenal shunts (PSRS) (1/4), 6 mesocaval shunts (1/5), and 1 modified Sugiura procedure. The results with DSRS have been favorable (one thrombosis, converted into mesocaval bypass). In the PSRS no thrombosis was identified and in the mesocaval shunt one early thrombosis occurred. Posttransplantation group had higher risk of shunt thrombosis, regardless of the surgical technique (chi-square, 0.021). The total increase of platelets after 6 months was not different in MPS as compared with other surgical techniques (analysis of variance, 0.110). The MPS is the technique of choice in EHPVO for idiopathic thrombosis as well as secondary to LT. Not all cases are favorable for MPS, so the surgeon must consider the possibility of alternative techniques for EHPVO. The results in terms of shunt patency are much better in idiopathic cavernoma that posttransplant patients.

Transdiaphragmatic cavoatrial anastomosis during orthotopic liver transplantation in a patient with chronic Budd-Chiari syndrome and thrombosis of inferior vena cava proximal to the right atrium - case report and review of literature

Introduction: Budd-Chiari syndrome associated with inferior vena cava (IVC) thrombosis extended to the right atrium is a rare condition, which requires liver transplantation with different techniques of caval reconstruction. The procedure is technically demanding, especially if it is performed solely transdiaphragmatically. Case presentation: An orthotopic liver transplantation (OLT) was performed in April 2014 in a 24-year old male patient with Budd-Chiari syndrome due to idiopathic thrombophilia and complete thrombosis of the retrohepatic IVC, up to its intrapericardic portion. Due to the impossibility of performing a cavo-caval anastomosis, a transdiaphragmatic anastomosis between the recipient right atrium and the donor superior cuff of the IVC was performed, without sternotomy. Results: Postoperative course was uneventful except for persitent ascites, which was successfully managed with diuretics. The patient was discharged after 34 days; 9 months postoperatively he has optimal liver function and has returned to normal life Conclusion: A transdiaphragmatic cavo-atrial anastomosis represents a feasible option in the setting of OLT, when the recipient IVC cannot be used due to extensive thrombosis, especially if it is performed by a multidisciplinary operative team.

Suspected Idiopathic Pulmonary Vein Thrombosis

Suspected Idiopathic Pulmonary Vein Thrombosis

Two novel mutations in the fibrinogen γ nodule

IntroductionCongenital dysfibrinogenemia and hypofibrinogenemia are rare diseases characterized by inherited abnormality in the fibrinogen molecule, resulting in functional defects (dysfibrinogenemia) or low fibrinogen plasma levels (hypofibrinogenemia). Materials and MethodsWe have described two abnormal fibrinogens – fibrinogen Hranice (γ Phe204Val) and Praha IV (γ Ser313Gly). The carrier of the Hranice mutation was a 40-year-old female with low fibrinogen levels. The carrier of the Praha IV mutation was a 42-year-old man with a history of idiopathic thrombosis, low functional fibrinogen levels, and a prolonged thrombin time. ResultsFibrin polymerization kinetics measurement was normal in both cases (after the addition of either thrombin or reptilase), as well as was fibrinolysis. Scanning electron microscopy and confocal microscopy revealed significantly wider fibers in both cases, when compared with fibers prepared from healthy control samples. Although both cases are situated in the γ-nodule, they manifested differently. While the γ Ser313Gly mutation manifested as dysfibrinogenemia with a thrombotic background, the γ Phe204Val mutation manifested as hypofibrinogenemia without clinical symptoms. The mutation sites of both fibrinogens are in highly conserved regions of the fibrinogen γ chains. γ Ser313 is situated in a class 16:18 β hairpin and is involved in hydrogen bonding with γ Asp320. γ Phe204 is situated in an inverse γ turn and may be involved in π-π interactions. ConclusionsBoth mutations cause conformational changes in fibrinogen, which lead either to impaired fibrinogen assembly (fibrinogen Hranice) or abnormal fibrinogen function (fibrinogen Praha IV).

The importance of the costoclavicular space in upper limb primary deep vein thrombosis, a study with magnetic resonance imaging (MRI) technique enhanced by a blood pool agent

BackgroundPrimary upper extremity deep vein thrombosis (UEDVT) can be divided into idiopathic and effort thrombosis. Anatomical factors probably play an important role in effort thrombosis, whereas the cause remains mostly unknown in idiopathic thrombosis. ObjectivesThe primary objective of this study was to examine the anatomy of the subclavian region and evaluate how these factors contribute to primary UEDVT. The secondary objective was to investigate if venous compression correlates with post thrombotic syndrome (PTS). Patients and methodsFifteen patients and 15 controls were enrolled in the study. The subclavian region (the costoclavicular distance and vessel area) was examined by MRI enhanced by a blood-pool contrast agent (Vasovist). The MRI was performed in two arm positions: alongside and elevated. PTS and disability were quantified with the modified Villalta score and the Disability of the Arm, Shoulder and Hand (DASH) test. ResultsThe costoclavicular distance was significantly narrower in the UEDVT patients with the arms alongside the body but there was a significant difference only in the left arm with the arms elevated. Area of the subclavian vein: When comparing the patients non-thrombotic arm with the controls, there was a significant difference only when the arms in the supine position. Disability: There was a high correlation between DASH, Villalta and VAS but no correlation between the MRI measurement and patient's symptoms or the Villalta Score. ConclusionOur results suggest that primary UEDVT is dependent on the subclavian anatomy and area of vena subclavia.

Spontaneous common iliac artery thrombosis: An unusual cause of abdominal pain

Introduction: Acute arterial thrombosis is a rare and life-threatening condition which requires urgent recognition and prompt treatment to prevent limb loss or death. It usually arises from an embolic event, but it has also been reported as an incidental finding in patients with active malignancies, or connective tissue disorders. We report an unusual presentation of idiopathic common iliac thrombosis and review the literature on this subject. Case Report: Herein, we describe a case of a young healthy man who presented to our emergency department on two separate occasions with abdominal pain and was found to have left common iliac artery thrombosis. Conclusion: Iliac artery occlusion is a very rare condition that carries very serious complications. Clinicians should have a high level of suspicion and should initiate therapy as soon as the diagnosis is confirmed to avoid any catastrophic sequelae.

Pediatric Idiopathic Venous Thrombosis

Venous Thrombosis is a rare disorder of childhood. The scientific advances in neonatal and paediatric critical care has decreased neonatal mortality rate, however, it is associated with an increase in the incidence of complications which were rare, one such being venous thrombosis.

PReS-FINAL-2269: Incidence of antiphospholipid antibody syndrome in a cohort of children suffering from either arterial or venous thrombosis

Arterial or venous thrombosis rarely occurs in children, in almost 70% of these patients an acquired or congenital cause can be identified. Hereditary thrombophilia can be identified in 10-30% of children with other evident causes of thrombosis, and in 60% of children with apparent idiopathic thrombosis. Therefore it is suggested that thrombophilia screening should be done in both cases.

Evaluation Of Factor V Leiden, Prothrombin Mutations and The Homozygous mutation 677T In The MTHFR Gene In Patients With Venous Thrombosis

Over the last few years there has been increased interest in laboratory tests for thrombophilia. Testing is predominantly performed to identify asymptomatic individuals at risk for a first thrombosis or patients (pts) at risk of relapse. The results are not always concordant, and the impact on clinical practice is not yet defined, especially for heterozygous forms. We evaluated heterozygous and homozygous Factor V Leiden (FVL) and prothrombin (FII) mutations and the homozygous C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in 98 pts with venous thrombosis distinguishing idiopathic forms from forms that are secondary to malignancy, surgery, forced immobilization or hormone treatments. FII mutation was present in 17% of idiopathic and 5.8% of secondary forms. FVL mutation was present in respectively 17% and 15.8% and MTHFR homozygous state in 31.9% and 21.5%. At least one of FII or FVL mutations was present respectively in 31.9% and 19%, at least one of the three mutations examined was present in 57.4% and 36.2%. In pts with limb venous thrombosis (n-64), the percentages for each mutation are respectively: FII-23.5% and 6.6%, FVL-20.5% and 6.6%, MTHFR 35.2% and 16.6% .At least one mutation between FII and FVL is present respectively in 42.1% and 13.3% (P = 0,028) while at least one of the three mutations is present in 61.7% and 30.5% (P = 0,022) In our pts with pulmonary thromboembolism (n-36) FII mutation was absent while FVL mutation was present in 7.6% of idiopathic and 21.7% of the secondary thrombosis, MTHFR in 30.7% and in 30.4%. At least one of the three examined mutations was present in 38.4% and 47.8%. The mutations we have studied are generally more frequent in idiopathic forms. The difference reaches statistical significance in limb venous thrombosis where they seem to have a significant relevance, although in a heterozygous state, and to promote thrombosis even in absence of other causes. In pulmonary thromboembolism (PTE) pts FII mutation was absent, FVL mutation is less frequent in pts with idiopathic thrombosis and MTHFR homozygous state is equivalent between the two subgroups. Thus, they seem to not influence PTE pathogenesis that would be likely sought in different causes. Disclosures: No relevant conflicts of interest to declare.

Idiopathische Thrombosen der palmaren Fingervenen - differenzialdiagnostisch selten aber relevant

Idiopathic thrombosis of palmar finger veins is rare and women suffer from it almost exclusively. Synovial cysts, epidermoid inclusion cysts, giant cell tumours and haemangiomatous lesions should be considered in the process of diagnosis. We present a 56-year-old woman with idiopathic and symptomatic thrombosis of palmar finger veins. Using the palmar approach the painful veins were identified and excised completely. An uncomplicated wound healing has followed with completely unrestricted and painless range of motion. Surgical excision of the finger vein thrombosis should be considered if there is continuing pain.

SAT0240 The levels of plasminogen and plasminogen activator inhibitor type 1 in antiphospholipid syndrome

BackgroundA disturbance in the fibrinolytic system may cause thrombosis in patients with antiphospholipid syndrome (APS).ObjectivesTo determine the levels of plasminogen (Pg) and plasminogen activator inhibitor type 1 (PAI-1) in patients...

Purpura fulminans et thrombose veineuse compatible avec une thrombophilie constitutionnelle chez un nourrisson

The association of idiopathic purpura fulminans (PF) and venous thrombosis (VT) seldom reveals constitutional thrombophilia in an infant. We report a case of PF in an 18-month-old infant. Laboratory tests showed disseminated intravascular coagulation (DIVC) with normal rates of C and S proteins and antithrombin. The echo-Doppler examination conveyed venous thrombosis of the lower limbs, while the genetic study showed heterozygous mutation of Factor II (G 20210A). Precocious and multidisciplinary management included frozen fresh plasma supplementation and necrosectomy with skin grafts. The diagnosis and therapeutic problems posed by PF combined with deep venous thrombosis are discussed.

The influence of factor V Leiden and G20210A prothrombin mutation on the presence of residual vein obstruction after idiopathic deep-vein thrombosis of the lower limbs

It was our aim to assess whether factor V Leiden (FVL) and G20210A prothrombin (FII) mutation are associated with the presence of residual vein obstruction (RVO) after a standard course of anticoagulation for a first episode of idiopathic proximal deep-vein thrombosis (DVT) of the lower limbs, with or without symptomatic pulmonary embolism (PE). Patients were enrolled in two prospective multicentre studies: PROLONG and PROLONG II. RVO was detected by compression ultrasonography according to the method of Prandoni on the day of anticoagulation withdrawal. Patients were also screened for FVL and FII mutation. The presence of FVL and/or FII mutation was determined in 872/963 (90.5%) patients, in 753 of whom RVO was assessed. FVL was significantly less frequent among subjects with isolated PE (7/176:4%) than among patients with either DVT and PE (15/133:11.3%; p=0.0018) or isolated DVT (89/563:15.8%; p<0.0001), confirming the FVL paradox. The rate of FII mutation was similar among patients with isolated PE (11/176:6.2%) and patients with either DVT and PE (12/133:9%) or isolated DVT (52/563:9.2%). FVL and FII mutation were not significantly associated with RVO at the multivariate analysis in all patients, although data suggest that FVL and FII mutation may have a differential effect on RVO in the subgroups of patients with DVT and DVT plus PE patients. Male sex and isolated DVT were significantly associated with RVO in all patients. In conclusion, male sex and isolated DVT are associated with RVO, while FVL and FII mutations are not significantly associated with RVO in this study.

Idiopathic Thrombosis of the Inferior Vena Cava and Bilateral Femoral Veins in an Otherwise Healthy Male Soldier

Thrombosis of the inferior vena cava is less common than deep venous thrombosis of the lower extremities, particularly in the absence of an obvious congenital caval abnormality or hypercoagulable state. We present a case of IVC thrombosis in an otherwise healthy and active 28-year-old male soldier secondary to dehydration and venous webbing. IVC thrombosis is an uncommon and underrecognized condition; in this case, the patient's caval thrombosis was initially mistaken for acute back strain. Prompt recognition is necessary to minimize long-term sequelae.

Platelet Hyperreactivity: Report of a Case with Catastrophic Arterial Thrombosis in a Child

Platelet hyperreactivity is an important but under-recognized cause of idiopathic arterial thrombosis. We describe a case of arterial thrombosis in a previously healthy 12-year-old girl after minor trauma to the knee, resulting in lower extremity amputation. Family history was positive for arterial and venous thrombosis, but an extensive work-up for the usual inherited thrombophilia risk factors was negative. The patient was eventually diagnosed with platelet hyperreactivity and remains on life-long antiplatelet therapy.Consideration of platelet hyperreactivity in the evaluation of unusual arterial thrombotic events allows for targeted therapy, potential avoidance of future events, and timely screening of family members.

759 Arterial Thrombosis in Children

IntroductionThrombophilia was initially attributed to inherited hypercoagulability state, in the same way as hemophilia, however by the time this term extended to include acquired cases as well. True idiopathic thrombosis...