scholarly journals Mesenteric vein thrombosis secondary to combined protein C deficiency and double heterozygosity for factor V leiden and prothrombin G20210A

1999 ◽  
Vol 62 (3) ◽  
pp. 199-200 ◽  
Author(s):  
M.S. Hertzberg ◽  
T. Underwood ◽  
E.J. Favaloro
Keyword(s):  
Protein C ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Protein C Deficiency ◽  
Mesenteric Vein Thrombosis ◽  
Mesenteric Vein ◽  
Vein Thrombosis ◽  
Double Heterozygosity

scholarly journals Factor V Leiden, Prothrombin G20210A, and Protein C Mutation Frequency in Turkish Venous Thrombosis Patients

2007 ◽  
Vol 14 (4) ◽  
pp. 415-420 ◽  
Author(s):  
Julide Altinisik ◽  
Omer Ates ◽  
Turgut Ulutin ◽  
Mujgan Cengiz ◽  
Nur Buyru
Keyword(s):  
Venous Thrombosis ◽  
Protein C ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Cerebral Vein ◽  
Factor V ◽  
Pulmonary Emboli ◽  
Protein C Deficiency ◽  
Vein Thrombosis ◽  
G20210a Mutation

Several inherited polymorphisms are associated with risk of venous thrombosis, including mutation at codon 506 of the factor V gene, mutation at position 20210 of the prothrombin gene, and mutations in the protein C gene. In this study, genotyping for factor V, prothrombin, and protein C mutations was performed in 50 patients and 25 control subjects by polymerase chain reaction—based analysis. The prevalence of factor V and prothrombin mutations was not significantly different from that in the general population. Nine of the patients had heterozygous protein C mutation. There was a high prevalence of the mutated protein C allele in the pulmonary emboli group (42.8%). Protein C mutation incidence was higher in the pulmonary emboli group than in the deep vein thrombosis (8.33%) and cerebral vein thrombosis (16.1%) groups. These results indicate that patients with protein C deficiency have a greater risk of thrombosis than patients with factor V or prothrombin G20210A mutation.

Portal, splenic and mesenteric vein thrombosis in a patient double heterozygous for factor V Leiden and prothrombin G20210A mutation

2009 ◽  
Vol 20 (8) ◽  
pp. 722-725 ◽  
Author(s):  
Elisavet Grouzi ◽  
Marianna Politou ◽  
Panagiota Douramani ◽  
Efrosyni Merkouri ◽  
Argyri Gialeraki ◽  
...  
Keyword(s):  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Mesenteric Vein Thrombosis ◽  
Mesenteric Vein ◽  
Vein Thrombosis ◽  
G20210a Mutation

scholarly journals A Case of Superior Mesenteric Vein Thrombosis Caused by Protein C Deficiency

2007 ◽  
Vol 40 (2) ◽  
pp. 204-208 ◽  
Author(s):  
Toshiki Yamakawa ◽  
Yuji Onoda ◽  
Ryuichirou Ohashi ◽  
Sadanobu Izumi ◽  
Ichio Suzuka ◽  
...  
Keyword(s):  
Protein C ◽  
Superior Mesenteric Vein ◽  
Protein C Deficiency ◽  
Mesenteric Vein Thrombosis ◽  
Mesenteric Vein ◽  
Vein Thrombosis ◽  
Superior Mesenteric Vein Thrombosis

scholarly journals Frequency of Thrombophilic Gene Mutations in Patients with Deep Vein Thrombosis and in Women with Recurrent Pregnancy Loss

2017 ◽  
Vol 12 (1) ◽  
pp. 162-166 ◽  
Author(s):  
Mahmoud Mohamed Elgari ◽  
Nadir Ahmed Ibrahim ◽  
Abdel Rahim Mahmoud Muddathir ◽  
Faris Mergheni Eltoom ◽  
Ibrahim M Ibrahim
Keyword(s):  
Deep Vein Thrombosis ◽  
Protein C ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Factor V Leiden ◽  
Protein S ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Vein Thrombosis ◽  
Deep Vein

AbstractThrombophilia may be anticipated by single or combined hereditary defects in encoding genes factor V, Prothrombin, and MTHFR. The aim of this study was to determine the prevalence and associated risks of V Leiden (G1691A), Prothrombin (G20210A), and MTHFR (C677T) mutations in Saudi women with Deep Vein Thrombosis (DVT) and women with recurrent pregnancy loss (RPL). Protein C and protein S activity were measured to determine combined effects, if any. We examined 60 women with a history of DVT and 60 with RPL, extracted DNA from EDTA blood and determined three mutations by using multiplex PCR reactions followed by Strip Assay KIT. Pro C Global assay was used to determine the cutoff value [PCATNR = 0.80]. Protein C/S chromogenic assay was used to estimate protein C and S percentages. Frequency of Factor V Leiden G/A genotype in patients with DVT 7 (11.6%) had a significant association for DVT χ2 (OR = 5.1, P = 0.03). In women with RPL the three mutations did not show any significant association, levels of Protein C, protein S and PCAT-NR in patient groups not different from controls (P > 0.05). In conclusion, we recommend expanding on these data to provide larger-scale studies.

Mesenteric Vein Thrombosis due to Protein C Deficiency

1992 ◽  
Vol 9 (5) ◽  
pp. 257-261
Author(s):  
R.J. Weinel ◽  
J. Kussmann ◽  
M. Rothmund
Keyword(s):  
Protein C ◽  
Protein C Deficiency ◽  
Mesenteric Vein Thrombosis ◽  
Mesenteric Vein ◽  
Vein Thrombosis

scholarly journals Portal Thrombosis in Cirrhosis: Role of Thrombophilic Disorders

2020 ◽  
Vol 9 (9) ◽  
pp. 2822
Author(s):  
José Ignacio Fortea ◽  
Inés García Carrera ◽  
Ángela Puente ◽  
Antonio Cuadrado ◽  
Patricia Huelin ◽  
...  
Keyword(s):  
Portal Vein ◽  
Protein C ◽  
Mutational Analysis ◽  
Activated Protein C ◽  
Factor V Leiden ◽  
Jak2 V617f ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Vein Thrombosis

In patients with liver cirrhosis the contribution of inherited and acquired prothrombotic disorders in the development of non-malignant portal vein thrombosis (PVT) is inconclusive. The purpose of this retrospective study was to examine the prevalence of thrombophilia in this setting at our center from January 2012 to November 2019. Tests included gene mutational analysis for Factor V Leiden, prothrombin G20210A, JAK2 (V617F), Calreticulin (CARL), in addition to activated protein C resistance, antithrombin III, protein C and S levels, and antiphospholipid antibodies. We included 77 patients, six of whom (7.8%) had a thrombophilic disorder: antiphospholipid syndrome in four patients, prothrombin gene mutation in one and factor V Leiden mutation in one. This latter patient had also been diagnosed with polycythemia vera years before PVT development. Complete thrombosis of the main portal vein and re-thrombosis after stopping anticoagulation were more frequent in patients with thrombophilia, but the rates of recanalization under anticoagulant therapy were similar among groups. No other difference was accounted between groups. The low prevalence of acquired and inherited thrombophilia found in patients with cirrhosis and PVT support testing for these disorders on an individual basis and avoiding universal screening to reduce costs and unwarranted testing.

Uncertain thrombophilia markers

2016 ◽  
Vol 115 (01) ◽  
pp. 25-30 ◽  
Author(s):  
Massimo Franchini ◽  
Ida Martinelli ◽  
Pier Mannuccio Mannucci
Keyword(s):  
Protein C ◽  
Factor V Leiden ◽  
Coagulation Factor ◽  
High Plasma ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Dna Testing ◽  
Vein Thrombosis ◽  
Thrombophilia Screening ◽  
Deep Vein

SummaryThe development of venous thromboembolism (VTE), which includes deep-vein thrombosis and pulmonary embolism, may be associated with inherited or acquired risk factors that can be measured in plasma or DNA testing. The main inherited thrombophilias include the plasma deficiencies of the natural anticoagulants antithrombin, protein C and S; the gain-of-function mutations factor V Leiden and prothrombin G20210A; some dysfibrinogenaemias and high plasma levels of coagulation factor VIII. Besides these established biomarkers, which usually represent the first-level laboratory tests for thrombophilia screening, a number of additional abnormalities have been less consistently associated with an increased VTE risk. These uncertain causes of thrombophilias will be discussed in this narrative review, focusing on their clinical impact and the underlying pathogenetic mechanisms. Currently, there is insufficient ground to recommend their inclusion within the framework of conventional thrombophilia testing.

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