Upper Extremity Deep Vein Thrombosis in a Young Patient Double Heterozygous for Factor V Leiden and Prothrombin G20210A Mutation

We report on a 19-year-old girl with upper extremity deep vein thrombosis after catheter indwelling whose thrombophilic study disclosed the coexistence of factor V Leiden and the prothrombin G20210A mutation. The family study identified five other members who were also heterozygous for both mutation...

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Bibliographic Details
Published in:Clinical and applied thrombosis/hemostasis 2001-01, Vol.7 (1), p.72-74
Main Authors: Vayá, Amparo, Todolí, Jose, Ricart, Jose, Estellés, Amparo, Mira, Yolanda, Villa, Piedad, Calabuig, Jose Ramon, Aznar, Justo
Format: Article
Language:English
Subjects:
Adult
Arm
Catheters, Indwelling - adverse effects
Factor V - genetics
Female
Genotype
Heterozygote
Humans
Mutation
Pedigree
Point Mutation
Prothrombin - genetics
Thrombophilia - blood
Thrombophilia - genetics
Thrombosis
Veins & arteries
Venous Thrombosis - etiology
Venous Thrombosis - genetics
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Summary:We report on a 19-year-old girl with upper extremity deep vein thrombosis after catheter indwelling whose thrombophilic study disclosed the coexistence of factor V Leiden and the prothrombin G20210A mutation. The family study identified five other members who were also heterozygous for both mutations. This is the first case of upper extremity deep vein thrombosis with the co-inheritance of both genetic defects. It provides further evidence that thrombophilic defects mostly require additional triggering factors to induce a thrombotic event and suggests that in young patients with this venous thrombotic location, a thrombophilic search should be performed even when there are other acquired thrombotic risk factors.
ISSN:1076-0296
1938-2723
DOI:10.1177/107602960100700114