115 research outputs found
Duration of anticoagulation and risk of recurrent thromboembolism in carriers of factor V Leiden or prothrombin mutation
No full textJ Thromb Haemost. 2008 Dec;6(12):2223-4. Epub 2008 Oct 1.
Duration of anticoagulation and risk of recurrent thromboembolism in carriers of
factor V Leiden or prothrombin mutation.
Prandoni P, Tormene D, Spiezia L, Pesavento R, Simioni P.
Comment in
J Thromb Haemost. 2008 Dec;6(12):2225-6.
PMID: 18983490 [PubMed - indexed for MEDLINE
FV Leiden pseudo-homozygotes have a more pronounced hypercoagulable state than FV Leiden homozygotes.
No full textJ Thromb Haemost. 2011 Apr;9(4):864-7. doi: 10.1111/j.1538-7836.2011.04205.x.
Factor V Leiden pseudo-homozygotes have a more pronounced hypercoagulable state
than factor V Leiden homozygotes.
Duckers C, Simioni P, Tormene D, Carraro S, Rosing J, Castoldi E.
PMID: 21251207 [PubMed - indexed for MEDLINE
Effect of prothrombin 19911 A>G polymorphism on the risk of cerebralsinus-venous thrombosis.
No full textEur J Neurol. 2010 Dec;17(12):1482-5.
Effect of prothrombin 19911 A>G polymorphism on the risk of cerebral
sinus-venous thrombosis.
Martinelli I, Bucciarelli P, De Stefano V, Passamonti SM, Menegatti M, Tormene D,
Tosetto A, Mannucci PM.
A. Bianchi Bonomi Haemophilia and Thrombosis Center, Department of Internal
Medicine and Medical Specialties, Fondazione IRCCS Ca' Granda - Ospedale Maggiore
Policlinico, University of Milan, Milan, Italy. [email protected]
BACKGROUND AND PURPOSE: The A>G polymorphism at position 19911 of the prothrombin
gene is associated with a mildly increased risk of venous thromboembolism, alone
or in association with such common thrombophilia mutations as factor V Leiden and
prothrombin 20210 GA. Its role in cerebral sinus-venous thrombosis (CSVT) is not
known.
METHODS: The presence of prothrombin 19911 A>G was investigated in a case–control
study of 107 patients with cerebral thrombosis and factor V Leiden (n = 25),
prothrombin 20210 GA (n = 47), without known thrombophilia (n = 35) and 842
healthy individuals with the corresponding coagulation profile.
RESULTS: Prothrombin 19911 A>G did not increase the risk of CSVT in carriers of
factor V Leiden (adjusted odds ratio 1.6, 95%CI 0.6–4.7), prothrombin 20210 GA
(odds ratio 1.1, 95%CI 0.6–2.2), nor in patients without known thrombophilia
(odds ratio 1.3, 95%CI 0.5–3.1).
CONCLUSIONS: Prothrombin 19911 A>G polymorphism does not appear to be a risk
factor for CSVT, alone or in association with factor V Leiden or prothrombin
20210GA.
© 2010 The Author(s). European Journal of Neurology © 2010 EFNS.
PMID: 20482605 [PubMed - indexed for MEDLINE
Thrombophilia as a predictor of persistent residual vein thrombosis
No full textHaematologica. 2008 Mar;93(3):479-80.
Thrombophilia as a predictor of persistent residual vein thrombosis.
Spiezia L, Tormene D, Pesavento R, Salmaso L, Simioni P, Prandoni P.
To compare the probability of leg vein recanalization between carriers and
non-carriers of thrombophilia after an episode of deep vein thrombosis (DVT) of
the lower extremities, we reviewed the clinical records of 472 patients with
proximal DVT who were diagnosed with thrombophilia, and had long-term ultrasound
scanning. One hundred and thirty-seven patients (29.0%) were carriers of
thrombophilia. After adjusting for age, sex, DVT localization and modality of
presentation, the hazard ratio of vein recanalization in thrombophilic compared
with non-thrombophilic patients was 0.49 (95% CI, 0.38 to 0.63). These findings
suggest that thrombophilia is an independent predictor of persistent residual
vein thrombosis.
PMID: 18310547 [PubMed - indexed for MEDLINE
Similar hypercoagulable state and thrombosis risk in type I and type III proteinS-deficient individuals from mixed type I/III families.
No full textHaematologica. 2010 Sep;95(9):1563-71. Epub 2010 Apr 26.
Similar hypercoagulable state and thrombosis risk in type I and type III protein
S-deficient individuals from families with mixed type I/III protein S deficiency.
Castoldi E, Maurissen LF, Tormene D, Spiezia L, Gavasso S, Radu C, Hackeng TM,
Rosing J, Simioni P.
Department of Biochemistry, Maastricht University P.O. Box 616, 6200 Maastricht,
The Netherlands. [email protected]
BACKGROUND: Protein S, which circulates in plasma in both free and bound forms,
is an anticoagulant protein that stimulates activated protein C and tissue factor
pathway inhibitor. Hereditary type I protein S deficiency (low total and low free
protein S) is a well-established risk factor for venous thrombosis, whereas the
thrombosis risk associated with type III deficiency (normal total and low free
protein S) has been questioned.
DESIGN AND METHODS: Kaplan-Meier analysis was performed on 242 individuals from
30 families with protein S deficiency. Subjects were classified as normal, or
having type I or type III deficiency according to their total and free protein S
levels. Genetic and functional studies were performed in 23 families (132
individuals).
RESULTS: Thrombosis-free survival was not different between type I and type III
protein S-deficient individuals. Type III deficient individuals were older and
had higher protein S, tissue factor pathway inhibitor and prothrombin levels than
type I deficient individuals. Thrombin generation assays sensitive to the
activated protein C- and tissue factor pathway inhibitor-cofactor activities of
protein S revealed similar hypercoagulable states in type I and type III protein
S-deficient plasma. Twelve PROS1 mutations and two large deletions were
identified in the genetically characterized families.
CONCLUSIONS: Not only type I, but also type III protein S deficiency is
associated with a hypercoagulable state and increased risk of thrombosis. These
findings may, however, be restricted to type III deficient individuals from
families with mixed type I/III protein S deficiency, as these represented 80% of
type III deficient individuals in our cohort.
PMCID: PMC2930959
PMID: 20421270 [PubMed - in process
Idraparinux: review of its clinical efficacy and safety for prevention andtreatment of thromboembolic disorders.
No full text1. Expert Opin Investig Drugs. 2008 May;17(5):773-7.
Idraparinux: review of its clinical efficacy and safety for prevention and
treatment of thromboembolic disorders.
Prandoni P, Tormene D, Perlati M, Brandolin B, Spiezia L.
Department of Medical and Surgical Sciences, Thromboembolism Unit, University of
Padua, 35128 - Padua, Italy. [email protected]
BACKGROUND: Idraparinux is a synthetic pentasaccharide that binds to antithrombin
with high affinity. In view of its long half-life, it is suitable for once-a-week
administration.
OBJECTIVE: To review the evidence favoring the use of idraparinux for the acute
and long-term treatment of patients with venous thromboembolism (VTE) and for the
prevention of thromboembolic events in patients with atrial fibrillation (AF).
METHODS: All preclinical and clinical studies carried out with the use of
idraparinux were sought through electronic searches of MEDLINE from January 1,
1999 up to December 31, 2007.
RESULTS: The administration of idraparinux in subcutaneous fixed doses of 2.5 mg
once weekly was found to be as effective and safe as conventional antithrombotic
therapy in the initial treatment of patients with deep vein thrombosis, but less
effective than standard therapy in the initial treatment of patients with primary
pulmonary embolism. During a 6-month extension of thromboprophylaxis, idraparinux
was effective in preventing recurrent VTE but was associated with an increased
risk of bleeding versus placebo. Finally, in patients with AF the long-term
treatment with idraparinux was as effective as vitamin K antagonists, but caused
more bleeding.
CONCLUSIONS: In its current formulation, idraparinux can be recommended only for
the initial treatment of patients with deep vein thrombosis. The bioequipotency
of a biotinylated version of idraparinux (idrabiotaparinux), whose effects can be
reversed by a neutralizing agent (avidin), is under investigation in the
treatment of VTE at present, as is the use of lower doses in patients with AF.
PMID: 18447601 [PubMed - indexed for MEDLINE
The risk of first venous thromboembolism during pregnancy and puerperium in double heterozygotes for factor V Leiden and prothrombin G20210A.
No full textJ Thromb Haemost. 2008 Mar;6(3):494-8. Epub 2007 Dec 19.
The risk of first venous thromboembolism during pregnancy and puerperium in
double heterozygotes for factor V Leiden and prothrombin G20210A.
Martinelli I, Battaglioli T, De Stefano V, Tormene D, Valdrè L, Grandone E,
Tosetto A, Mannucci PM; GIT (Gruppo Italiano Trombofilia).
A. Bianchi Bonomi Haemophilia and Thrombosis Center, Department of Internal
Medicine and Medical Specialties, University of Milan and IRCCS Ospedale Maggiore
Policlinico, Mangiagalli and Regina Elena Foundation, Milan, Italy.
[email protected]
BACKGROUND: The risk of venous thromboembolism (VTE) during pregnancy in double
heterozygous carriers of factor (F) V Leiden and prothrombin G20210A is not
established. Hence, whether or not these women deserve antithrombotic prophylaxis
when pregnant is unknown.
PATIENTS AND METHODS: In the frame of a multicenter family study, 52 double
heterozygous carriers of FV Leiden and prothrombin G20210A who had remained
pregnant at least once before knowledge of thrombophilia, were retrospectively
investigated with respect to the occurrence of first VTE during pregnancy and
puerperium. They were compared with 104 heterozygous carriers of FV Leiden, 104
of prothrombin G20210A and 104 women without thrombophilia.
RESULTS: Double heterozygotes were similar to single heterozygous carriers and
non-carriers for the age at first pregnancy, age at testing and rate of full-term
pregnancies. No VTE during pregnancy was observed in the four groups of women,
whereas in the puerperium it occurred in two double carriers (1.8% of
pregnancies, 95% CI: 0.5-6.3), three single FV Leiden carriers (1.5%, 0.5-4.3),
two single prothrombin G20210A carriers (1%, 0.2-3.6) and one non-carrier (0.4%,
0-2.5).
CONCLUSIONS: The risk of first VTE during pregnancy and puerperium in double
heterozygous carriers of FV Leiden and prothrombin G20210A is low and similar to
that of single carriers. As for single heterozygotes, antithrombotic prophylaxis
in asymptomatic double heterozygous carriers appears to be justified only in
puerperium.
PMID: 18182035 [PubMed - indexed for MEDLINE
The Risk of Cancer Progression in Women With Gynecological Malignancies andThrombophilic Polymorphisms: A Pilot Case-Control Study.
No full textClin Appl Thromb Hemost. 2009 Oct;15(5):535-9. Epub 2008 Jun 29.
The risk of cancer progression in women with gynecological malignancies and
thrombophilic polymorphisms: a pilot case-control study.
Tormene D, Beltramello P, Perlati M, Brandolin B, Barbar S, De Toffoli G, Simioni
P.
Department of Medical and Surgical Sciences, Second Chair of Internal Medicine,
University of Padua Medical School, Padua, Italy. [email protected]
Cancer produces a hypercoagulable state, which might lead to thrombosis, and on
contrary, unprovoked venous thromboembolism might be the manifestation of an
occult cancer. In this pilot case-control study, we assessed the risk of
gynecological malignant diseases related to the presence of the factor V Leiden
and prothrombin G20210A polymorphisms. Fifty-two women underwent an operation for
gynecological malignancy and were enrolled in the study. Women who underwent an
operation for gynecological nonmalignant disease in the same days of cases were
considered as controls. The presence of factor V Leiden and prothrombin G20210A
was assessed in case and control groups. In all, 7 out of 52 cases were carriers
of the 2 polymorphisms compared with 20 out of 198 controls (odds ratio = 1.3;
95% confidence interval, 0.6-3.0). The results were also similar when the risk
was considered separately for the site of cancer. As for advanced and metastatic
malignancies, the odds ratios were 2.3 (95% confidence interval, 0.9-6.0) and 3.3
(95% confidence interval, 1.0-11), respectively, compared to noncancer patients.
When these 2 groups were compared to nonadvanced cancer group, the odds ratios
for carriers of polymorphisms were 2.7 (95%confidence interval, 0.7-11.0) and 3.9
(95%confidence interval, 0.8-18.6) for advanced cancer and metastatic
malignancies, respectively. Women with factor V Leiden or prothrombin G20210A
polymorphisms who developed gynecological malignancy might present with a higher
stage of cancer at the time of surgery. Larger case-control studies in similar
cohort of patients are needed to confirm these findings.
PMID: 18591179 [PubMed - indexed for MEDLINE
Thrombophilic screening in young patients (
No full textThromb Res. 2011 Feb;127(2):85-90. Epub 2010 Dec 18.
Thrombophilic screening in young patients (< 40 years) with idiopathic ischemic
stroke: a controlled study.
Dragoni F, Chiarotti F, Rosano G, Simioni P, Tormene D, Mazzucconi MG, Cafolla A,
Avvisati G.
Thrombosis Center, Department of Biotecnologie Cellulari ed Ematologia,
University Sapienza, Rome, Italy. [email protected]
INTRODUCTION: Despite extensive clinical and laboratory investigations, the
etiology of ischemic stroke remains unknown in approximately one third of
patients.
MATERIALS AND METHODS: Thirty-four consecutive patients less than 40 years old
(Males 13, Females 21, mean age 26.6 years, range 2-39) with documented ischemic
stroke underwent, one year after the acute event, laboratory evaluation of
antithrombin, protein C, free and total protein S, activated protein C
resistance, fibrinogen, factor VII:C, homocysteine levels and antiphospholipid
antibodies (APA). Moreover, prevalence of F5 R506Q, F2 G2021A and homozygosis for
thermolabile variant C677T of the methylenetetrahydrofolate reductase (MTHFR)
were also evaluated and compared to the results obtained in 120 normal controls.
RESULTS: Antithrombin and protein C levels resulted normal in all cases. One
patient (2.9%) showed free protein S deficiency and 3 patients (8.8%) had
activated protein C resistance. Homocysteine levels above 15 μmol/L were found in
one patient (2.9%). APA were found in 21 patients (61.7%) and in only 2 out of
120 (1.66%) controls (OR=95.31; 95% C.I.: 18.22-667.81). The multivariate
analysis selected that the presence of APA was significantly associated with an
increased risk of stroke (OR=156.60; 95% C.I.: 25.99-943.47) in this cohort of
patients. The combination between APA and cardiovascular risk factors determined
a risk of 29-fold (OR=29.31; 95% CI: 3.28-261.69).
DISCUSSION: Our data suggest that the presence of APA is associated with an
increased risk of idiopathic ischemic stroke in young patients. Furthermore, also
the combination of APA and cardiovascular risk factors is significantly
associated with development of idiopathic ischemic stroke.
Copyright © 2010 Elsevier Ltd. All rights reserved.
PMID: 21172722 [PubMed - indexed for MEDLINE
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