Hereditary and acquired thrombophilia in patients with upper extremity deep-vein thrombosis

2008 ◽  
Vol 100 (09) ◽  
pp. 440-446 ◽  
Author(s):  
Florian Meister ◽  
Jan Schwonberg ◽  
Marc Schindewolf ◽  
Dimitrios Zgouras ◽  
Edelgard Lindhoff-Last ◽  
...  
Keyword(s):  
Deep Vein Thrombosis ◽  
Upper Extremity ◽  
Factor V Leiden ◽  
Common Finding ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Vein Thrombosis ◽  
G20210a Mutation ◽  
Deep Vein

SummaryThe prevalence of coagulation disorders in patients with upper extremity deep-vein thrombosis (UE-DVT) is unknown due to only a few observational studies of limited size reporting varying results. Therefore, we aimed to evaluate the prevalence of thrombophilia in patients with UE-DVT compared to patients with lower extremity deep vein thrombosis (LE-DVT). One hundred fifty consecutive patients (15 to 91 years of age) with UE-DVT were recruited from the MAISTHRO (MAin-ISar-THROmbosis) registry. Three hundred LE-DVT patients matched for gender and age served as controls. Thrombophilia screening included tests for the factor V Leiden mutation, the prothrombin G20210A mutation, antiphospholipid antibodies and factor VIII (FVIII), protein C, protein S and antithrombin activities. At least one thrombophilia was present in 34.2% of UE-DVT and 39.2% in UE-DVT that was unrelated to venous catheters relative to 55.3% in LE-DVT patients (p<0.001). In particular, a persistently elevated FVIII is less likely to be found in UE-DVT patients than in those with LE-DVT and is the only thrombophilia that is differentially expressed after controlling for established VTE risk factors [OR 0.46, (95% CI 0.25–0.83)]. Although less prevalent than in LE-DVT patients, thrombophilia is a common finding in patients with UE-DVT, especially in those with thrombosis that is unrelated to venous catheters.

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.

Comparison of the Risk of Pulmonary Embolism and Deep Vein Thrombosis in the Presence of Factor V Leiden or Prothrombin G20210A

2000 ◽  
Vol 83 (02) ◽  
pp. 352-354 ◽  
Author(s):  
J. M. Carreira ◽  
C. R. Alvarez ◽  
J.M. Rodríguez ◽  
M. V. Alvarez ◽  
E. Coto ◽  
...  
Keyword(s):  
Pulmonary Embolism ◽  
Deep Vein Thrombosis ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Vein Thrombosis ◽  
Deep Vein

Deep Vein Thrombosis during Pregnancy in Double Homozygous Carrier of Factor V Leiden and Prothrombin G20210A.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 1633-1633
Author(s):  
Ida Martinelli ◽  
Tullia Battaglioli ◽  
Angelo L. Beretta ◽  
Marina Bianchi ◽  
Pier Mannuccio Mannucci
Keyword(s):  
Deep Vein Thrombosis ◽  
Venous Thrombosis ◽  
Ultrasound Examination ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Her Family ◽  
Vein Thrombosis ◽  
Gestational Week ◽  
Deep Vein

Abstract Background. Factor V Leiden and prothrombin G20210A are gain-of-function mutations leading to an increased risk of venous thrombosis. They are the most common causes of thrombophilia, being present in their heterozygous form in 15–20% for factor V Leiden and 6–15% for prothrombin G20210A of unselected patients with venous thrombosis. The prevalence of each mutation in the Italian general population is 3%. Homozygous carriers for each mutation are rare, and double homozygous carriers, expected in 1 in 1.200.000 individuals, has never been described in the literature so far. Patient. On March 3, 2005 a 30-year-old woman was admitted to the Unit of Internal Medicine, Valduce Hospital, Como, for swell and pain in the left leg. She was pregnant at the 25th gestational week. Ultrasound examination diagnosed a deep vein thrombosis of the left external and common iliac veins. She had no symptoms of pulmonary embolism. She was given nadroparin 6000 UI b.i.d. (her weight was 63 kg), elastic stockings, and was discharged on March 9, 2005. Because of worsening of the swell in the left leg, she was re-admitted on March 12, 2005 and the ultrasound examination showed an extension of the deep vein thrombosis to the left femoral-popliteal venous system. The dose of nadroparin was increased to 7000 UI b.i.d. Thrombophilia screening revealed a double homozygosity for factor V Leiden and prothrombin G20210A. Her past personal history was negative for thrombosis, but she was never exposed to high risk situations (surgery, bone fractures, prolonged immobilization, oral contraceptive use, long-haul flights) apart from a previous pregnancy which ended in miscarriage at the 6th gestational week. On June 14, 2004 she had an uneventful vaginal delivery after two hours of labour, with the last nadroparin injection in the evening before, The newborn was a female who weighted 3500 g. Her family history was also negative for thrombosis in first- and second-degree relatives despite both parents were double heterozygotes for factor V Leiden and prothrombin G20210A and brother and sister were homozygotes for factor V Leiden and heterozygotes for prothrombin G20210A. Conclusions. The relative risk of venous thrombosis in double homozygous for factor V Leiden and prothrombin G20210A is unknown but is predicted to be extremely high. However, the patient described here had her first episode during a trigger situation, i.e., pregnancy, and severe thrombophilia seems to run an uneventful cause in her family in spite of repeated exposures to high risk situations. Hence, we shall advise the patient to stop oral anticoagulant therapy, started soon after delivery, one year after the thrombotic event.

Results of Factor V Leiden Mutation Screening in Patients with Deep Vein Thrombosis

2013 ◽  
Vol 22 (1) ◽  
pp. 110-116 ◽  
Author(s):  
Olcay Murat DİŞLİ ◽  
Barış AKÇA ◽  
Köksal DÖNMEZ ◽  
Cengiz ÇOLAK ◽  
Hasan Berat CİHAN ◽  
...  
Keyword(s):  
Deep Vein Thrombosis ◽  
Mutation Screening ◽  
Factor V Leiden ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Vein Thrombosis ◽  
Deep Vein
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