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

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

Thrombosis and Haemostasis ◽

10.1160/th08-03-0196 ◽

2008 ◽

Vol 100 (09) ◽

pp. 440-446 ◽

Cited By ~ 22

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.

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