Paediatric thrombo-embolism: the influence of non-genetic factors and the role of activated protein C resistance and protein C deficiency

Uttenreuther-Fischer, Martina; Vetter, Barbara; Hellmann, C; Otting, U; Ziemer, Sabine; Hausdorf, G.; Gaedicke, Gerhard; Kulozik, Andreas E.

doi:10.1007/s004310050600

Cited by 52 publications

(36 citation statements)

References 22 publications

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“…Portal vein thrombosis is not frequent in the pediatric age group, however, it is an important cause of portal hypertension and shows as main morbidity the upper gastrointestinal bleeding (21,34,41,48) . As observed in the present study, PVT does not show gender predominance and its more common initial manifestations in children are upper gastrointestinal bleeding and splenomegaly, which corroborates results reported in the literature (1,6,41,47,50,53) .…”

Section: Discussionmentioning

confidence: 99%

“…Approximately 79% of the children diagnosed with PVT will show at least one episode of upper gastrointestinal bleeding during their lives (2,41) . In the literature there are few reports on PVT in children and adolescents, being some of them also studies about casuistic descriptions and others about specific characteristics of the disease as thrombophilia (1,17,20,32,43,45,48,53,54,55) . Due to the scarcity of studies in the pediatric age group and the importance of the theme, this study`s objective is to describe the clinical characteristics, diagnosis, evolution and treatment of the portal hypertension in children and adolescents with diagnosis of portal vein thrombosis assisted at the Pediatric Hepatology Clinic of the Hospital das Clínicas of Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, Brazil.…”

Section: Introductionmentioning

confidence: 99%

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Portal vein thrombosis in children and adolescents: 20 years experience of a pediatric hepatology reference center

Ferri

Ferreira

Fagundes

et al. 2012

Arq. Gastroenterol.

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-Context -Portal vein thrombosis refers to a total or partial obstruction of the blood flow in this vein due to a thrombus formation. It is an important cause of portal hypertension in the pediatric age group with high morbidity rates due to its main complication -the upper gastrointestinal bleeding. Objective -To describe a group of patients with portal vein thrombosis without associated hepatic disease of the Pediatric Hepatology Clinic of the Hospital das Clínicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil with emphasis on diagnosis, presentation form and clinical complications, and the treatment of portal hypertension. Methods -This is a descriptive study of a series of children and adolescents cases assisted from January 1990 to December 2010. The portal vein thrombosis diagnosis was established by ultrasound. Results -Of the 55 studied patients, 30 (54.5%) were male. In 29 patients (52.7%), none of the risk factors for portal vein thrombosis was observed. The predominant form of presentation was the upper gastrointestinal bleeding (52.7%). In 20 patients (36.4%), the initial manifestation was splenomegaly. During the whole following period of the study, 39 patients (70.9%) showed at least one episode of upper gastrointestinal bleeding. The mean age of patients in the first episode was 4.6 ± 3.4 years old. The endoscopic procedure carried out in the urgency or electively for search of esophageal varices showed its presence in 84.9% of the evaluated patients. The prophylactic endoscopic treatment was performed with endoscopic band ligation of varices in 31.3% of patients. Only one died due to refractory bleeding. Conclusions -The portal vein thrombosis is one of the most important causes of upper gastrointestinal bleeding in children. In all non febrile children with splenomegaly and/or hematemesis and without hepatomegaly and with normal hepatic function tests, it should be suspect of portal vein thrombosis. Thus, an appropriate diagnostic and treatment approach is desirable in an attempt to reduce morbidity and mortality.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Portal vein thrombosis in children and adolescents: 20 years experience of a pediatric hepatology reference center

Ferri

Ferreira

Fagundes

et al. 2012

Arq. Gastroenterol.

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“…The majority of these infants had clinical risk factors that "unmasked" the congenital defect. [107][108][109][110][111][112] The diagnosis of heterozygote protein C deficiency in newborns is particularly difficult as physiologic values for protein C at birth may be as low as 17% of adult levels. Occasionally newborns were labelled as protein C defi-cient when the values were actually normal for age.…”

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confidence: 99%

Thromboembolic Disease and Antithrombotic Therapy in Newborns

Andrew¹,

Monagle²,

deVeber³

et al. 2001

Hematology

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This update uses an evidence based approach to analyze and present the epidemiology of neonatal thrombosis, etiologies, currently used techniques for diagnosis with their limitations, and current therapeutic approaches. In addition, the approaches to both prevention and optimal therapies are discussed.In Section I Dr. Paul Monagle addresses the epidemiology of neonatal thrombosis outside of the central nervous system in both arterial and venous locations, and those that occur in utero. The specific contributions of catheters and congenital prothrombotic disorders are delineated. Dr. Monagle also describes currently used techniques for the diagnosis of thrombotic events as well as their limitations and the current therapeutic approaches.In Section II, Dr. Gabrielle deVeber reviews the epidemiology of neonatal thrombosis within the central nervous system, in both arterial and venous locations and those that occur in utero. The neurological presentation, risk factors including congenital prothrombotic disorders, anatomical distribution, diagnostic tests, use of antithrombotic therapy and neurologic outcome of neonates with either sinovenous thrombosis or arterial ischemic stroke are discussed.In Section III, Dr. Anthony Chan reviews the current approaches to the prevention and treatment of neonatal thrombosis. Information on the differences in the response of neonates compared to adults to antithrombotic therapy and new approaches to the prevention and treatment of thrombosis in neonates are emphasized.Thromboembolic events (TEs) during childhood are increasing in their frequency and severity, and occur in children surviving previously life-threatening primary diseases. Newborns comprise the largest group of children developing TEs. This paper discusses the epidemiology, diagnostic tests, acquired and congenital prothrombotic risk factors, long-term outcomes, and antithrombotic therapy for the management of TEs in newborns. Due to the unique features and the significance of TEs in the central nervous system (CNS), sinovenous thrombosis (SVT) and arterial ischemic stroke (AIS) will be considered separately; cerebrovascular lesions in premature infants will not be discussed.In preparation for this manuscript, comprehensive Medline reviews were performed to identify all relevant publications, which were analyzed based upon the study design; results of studies with stronger designs were given more influence in the analysis. The striking features of this review were the deficiencies in our knowledge with respect to appropriate diagnostic strategies, optimal therapy for newborns with TEs, and the contribution of congenital prothrombotic disorders. Well-designed trials are required to improve our ability to care for neonates with TEs.

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“…Neonatal thrombosis and vascular accidents within the first year of life are being increasingly diagnosed and, in the majority of cases, central venous lines are involved (Schmidt & Andrew, 1995;Nowak-Go Èttl et al, 1997a). During infancy, apart from catheter-related thrombosis, renal venous thrombosis (RVT), caval vein thrombosis, portal vascular occlusions (PVT) or hepatic vein thrombosis (HVT) have been reported, often associated with acquired predisposing factors such as peripartal asphyxia, septicaemia or maternal diabetes (Uttenreuther-Fischer et al, 1996;Farnoux et al, 1998;Bo Èkenkamp et al, 2000).…”

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confidence: 99%

Abdominal venous thrombosis in neonates and infants: role of prothrombotic risk factors – a multicentre case–control study

Heller

Schobeß²,

Kurnik³

et al. 2000

Br J Haematol

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The factor V (FV) G1691A mutation, the prothrombin (PT) G20210A variant, the methylenetetrahydrofolate reductase (MTHFR) T677T genotype, together with fasting homocysteine (HCY) concentration, lipoprotein (Lp)(a), anti‐thrombin (AT), protein C (PC), protein S (PS) and anti‐cardiolipin antibodies were investigated in 65 consecutively recruited infants (neonate to < 12 months) with renal venous thrombosis (RVT; n = 31), portal vein thrombosis (PVT; n = 24) or hepatic vein thrombosis (HVT n = 10), and 100 age‐ and sex‐matched healthy controls. FV G1691A was found in 14 babies (heterozygous: RVT n = 9, PVT n = 4; homozygous HVT n = 1) and five controls, the MTHFR TT677 genotype together with increased HCY in four infants with thrombosis (RVT n = 2; PVT n = 1; HVT n = 1) compared with one control, and the PT G20210A variant was present in one control only. PC type I deficiency was diagnosed in three patients (RVT n = 2; PVT n = 1) and AT deficiency in two patients (RVT n = 1; PVT n = 1). Three neonates with spontaneous thrombosis showed FV G1691A combined with Lp(a) and the FV G1691A was combined with the PT G20210A genotype in two infants. Additional triggering factors were reported in 27 patients (41·5%). The overall odds ratios (ORs) and 95% confidence intervals (CIs) with respect to the different thrombosis locations were: RVT (OR/CI: 10·9/3·85–31·1; P < 0·0001), PVT (5·47/1·7–17·6; P < 0·0007) and HVT (3·3/0·58–18·7; P = 0·18). The data presented here suggest that genetic prothrombotic risk factors also play an important role in abdominal venous thrombosis during infancy.

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Paediatric thrombo-embolism: the influence of non-genetic factors and the role of activated protein C resistance and protein C deficiency

Abstract: Our data show that non-genetic and particular iatrogenic risk factors can often be identified in children with thrombosis, but activated protein C resistance and protein C deficiency are significant genetic risk factors in this age group.

Cited by 52 publications

References 22 publications

Portal vein thrombosis in children and adolescents: 20 years experience of a pediatric hepatology reference center

Portal vein thrombosis in children and adolescents: 20 years experience of a pediatric hepatology reference center

Thromboembolic Disease and Antithrombotic Therapy in Newborns

Abdominal venous thrombosis in neonates and infants: role of prothrombotic risk factors – a multicentre case–control study

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