scholarly journals Gly197Arg mutation in protein C causes recurrent thrombosis in a heterozygous carrier

2020 ◽  
Vol 18 (5) ◽  
pp. 1141-1153 ◽  
Author(s):  
Yeling Lu ◽  
Hemant Giri ◽  
Bruno O. Villoutreix ◽  
Qiulan Ding ◽  
Xuefeng Wang ◽  
...  
Keyword(s):  
Protein C ◽  
Heterozygous Carrier ◽  
Recurrent Thrombosis

Laboratory Evaluation and Clinical Characteristics of 2,132 Consecutive Unselected Patients with Venous Thromboembolism – Results of the Spanish Multicentric Study on Thrombophilia (EMET*-Study)

1997 ◽  
Vol 77 (03) ◽  
pp. 444-451 ◽  
Author(s):  
José Mateo ◽  
Artur Oliver ◽  
Montserrat Borrell ◽  
Núria Sala ◽  
Jordi Fontcuberta ◽  
...  
Keyword(s):  
Venous Thrombosis ◽  
Odds Ratio ◽  
Protein C ◽  
Protein S ◽  
Laboratory Evaluation ◽  
Clinical Factors ◽  
Recurrent Thrombosis ◽  
Heparin Cofactor Ii ◽  
Crude Odds Ratio ◽  
History Of

SummaryPrevious studies on the prevalence of biological abnormalities causing venous thrombosis and the clinical characteristics of thrombotic patients are conflicting. We conducted a prospective study on 2,132 consecutive evaluable patients with venous thromboembolism to determine the prevalence of biological causes. Antithrombin, protein C, protein S, plasminogen and heparin cofactor-II deficiencies, dysfibrinoge-nemia, lupus anticoagulant and antiphospholipid antibodies were investigated. The risk of any of these alterations in patients with familial, recurrent, spontaneous or juvenile venous thrombosis was assessed. The overall prevalence of protein deficiencies was 12.85% (274/2,132) and antiphospholipid antibodies were found in 4.08% (87/2,132). Ten patients (0.47%) had antithrombin deficiency, 68 (3.19%) protein C deficiency, 155 (7.27%) protein S deficiency, 16 (0.75%) plasminogen deficiency, 8 (0.38%) heparin cofactor-II deficiency and 1 had dysfib-rinogenemia. Combined deficiencies were found in 16 cases (0.75%). A protein deficiency was found in 69 of 303 (22.8%) patients with a family history of thrombosis and in 205/1,829 (11.2%) without a history (crude odds ratio 2.34, 95% Cl 1.72-3.17); in 119/665 (17.9%) patients with thrombosis before the age of 45 and in 153/1,425 (10.7%) after the age of 45 (crude odds ratio 1.81, 95% Cl 1.40-2.35); in 103/616 (16.7%) with spontaneous thrombosis and in 171/1,516 (11.3%) with secondary thrombosis (crude odds ratio 1.58, 95% Cl 1.21-2.06); in 68/358 (19.0%) with recurrent thrombosis and in 206/1,774 (11.6%) with a single episode (crude odds ratio 1.78,95% Cl 1.32-2.41). Patients with combined clinical factors had a higher risk of carrying some deficiency. Biological causes of venous thrombosis can be identified in 16.93% of unselected patients. Family history of thrombosis, juvenile, spontaneous and recurrent thrombosis are the main clinical factors which enhance the risk of a deficiency. Laboratory evaluation of thrombotic patients is advisable, especially if some of these clinical factors are present.

Prothrombin Fragment F1+2 Is not Predictive for Recurrent Venous Thromboembolism

1997 ◽  
Vol 77 (05) ◽  
pp. 0829-0833 ◽  
Author(s):  
P A Kyrle ◽  
S Eichinger ◽  
I Pabinger ◽  
A Stümpflen ◽  
M Hirschl ◽  
...  
Keyword(s):  
Venous Thromboembolism ◽  
Venous Thrombosis ◽  
Protein C ◽  
Oral Anticoagulants ◽  
Factor V Leiden ◽  
Factor V ◽  
Recurrent Thrombosis ◽  
Prothrombin Fragment ◽  
Recurrent Venous Thromboembolism ◽  
History Of

SummaryIt would be important to estimate in advance the risk of recurrent thrombosis. Deficiencies of antithrombin, protein C or protein S, or resistance to activated protein C are associated with a biochemically detectable prethrombotic state. It is thus far unknown whether in patients with a history of thromboembolism but without a defined clotting abnormality a heightened coagulation activation is detectable.We investigated the value of prothrombin fragment Fl+2 (FI+2) as a predictor of recurrent venous thromboembolism. Furthermore, we compared the Fl+2 levels of thrombosis patients without a defined clotting defect to those of Factor V Leiden patients with a history of venous thrombosis and to those of healthy controls. 180 patients without a defined clotting abnormality and 73 patients with Factor V Leiden were prospectively followed after discontinuation of oral anticoagulants for venous thrombosis and Fl+2 was measured at regular intervals.Recurrent venous thromboembolism occurred in 23 (9%) of the 253 patients. Before or at several time points after oral anticoagulants, no significant difference in Fl+2 levels was found in patients with and without recurrent thrombosis. Fl+2 levels at 3 weeks and prior to recurrence were not significantly different in both patient groups. Over a one-year observation period, Fl+2 levels of both patients with and without Factor V Leiden were higher than those of the controls. No difference in Fl+2 was seen between patients with and without Factor V Leiden.We conclude that monitoring of Fl+2 is not suitable for identification of individuals at risk of recurrent venous thrombosis. Permanent hemostatic system activation is detectable both in patients with a defined abnormality of the clotting system and in patients in whom a particular defect has not (yet) been identified.

The Effects of Hormone Replacement Therapy (HRT) on Hemostatic Variables in Women with Previous Venous Thromboembolism – Results from a Randomized, Double-Blind, Clinical Trial

2001 ◽  
Vol 85 (05) ◽  
pp. 775-781 ◽  
Author(s):  
Erik Qvigstad ◽  
Trine Opstad Andersen ◽  
Marie-Christine Mowinckel ◽  
Per Morten Sandset ◽  
Else Høibraaten
Keyword(s):  
Hormone Replacement Therapy ◽  
Venous Thromboembolism ◽  
Replacement Therapy ◽  
Protein C ◽  
Hormone Replacement ◽  
Factor Vii ◽  
Prolonged Treatment ◽  
Recurrent Thrombosis ◽  
Double Blind ◽  
Factor V Leiden Mutation

SummaryIn a recent randomized, double-blind, placebo-controlled trial of women with a history of venous thromboembolism (VTE), we found that hormone replacement therapy (HRT) was associated with an early excess risk of recurrent thrombosis. The aims of the present study were to characterize the effects of HRT on coagulation in these women to elucidate the mechanism(s) by which HRT increases the risk of thrombosis. The study comprised 140 women who were randomized to receive continuous treatment for 24 months with once daily 2 mg 17- -estradiol plus 1 mg norethisterone acetate (n = 71) or placebo (n = 69). HRT caused significant increases in prothrombin fragments 1+2, thrombin-antithrombin complex, and D-Dimer after 3 months, but these changes were less pronounced on prolonged treatment. The increases in markers of activated coagulation was higher in those women who subsequently developed recurrent thrombosis, but was similar in carriers and non-carriers of the factor V Leiden mutation. HRT had no effects on fibrinogen and factor VIII. Activated factor VII, but not factor VII antigen, decreased significantly on HRT as compared with placebo. The coagulation inhibitors antithrombin, protein C, and TFPI, but not protein S, all showed significant sustained decreases in the HRT group as compared with placebo. Antithrombin and protein C decreased by 8-12% on HRT, whereas TFPI activity decreased by 12-17% and TFPI free antigen by 29-30%. In multivariate analysis, only TFPI activity was a significant predictor for the increased activation of coagulation. We conclude that HRT was associated with early activation of coagulation, which corroborates the finding of an early risk of recurrent VTE. This activation may in part be explained by reduction in circulating anticoagulants.

scholarly journals Hereditary protein C deficiency with recurrent thrombosis: identification of a missense mutation (C6218T)

1998 ◽  
Vol 13 (2) ◽  
pp. 186 ◽  
Author(s):  
K S Song ◽  
Y S Park ◽  
C R Choi ◽  
H K Kim ◽  
Q Park ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Protein C ◽  
Recurrent Thrombosis ◽  
Protein C Deficiency

The Factor V Leiden Mutation (R506Q) is not a Major Risk Factor for Migrainous Cerebral Infarction

Cephalalgia ◽  
1997 ◽  
Vol 17 (5) ◽  
pp. 605-607 ◽  
Author(s):  
J Haan ◽  
LJ Kappelle ◽  
H de Ronde ◽  
MD Ferrari ◽  
RM Bertina
Keyword(s):  
Risk Factor ◽  
Cerebral Infarction ◽  
Protein C ◽  
Activated Protein C ◽  
Factor V Leiden ◽  
Major Risk Factor ◽  
Factor V ◽  
Heterozygous Carrier ◽  
Factor V Leiden Mutation ◽  
Coagulation Abnormalities

The etiology of migrainous cerebral infarction is unknown, but may involve prothrombotic coagulation abnormalities. Therefore, we studied resistance to activated protein C and the presence of the Arg506Gln factor V Leiden mutation in 20 patients, with migrainous cerebral infarction. Only one heterozygous carrier of the mutation was found, whereas other patients did not carry the mutation. This indicates that the factor V Leiden mutation is not a major risk factor for migrainous cerebral infarction.

Activated protein C: the cure for sepsis - again?

Anaesthesia ◽  
2001 ◽  
Vol 56 (12) ◽  
pp. 1133-1135 ◽  
Author(s):  
Tariq Hoth ◽  
Timothy W. Evans
Keyword(s):  
Protein C ◽  
Activated Protein C
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