Kombineret antitrombinmangel og faktor VLeiden-mutation i en dansk familie

Christiane Nielsen, Jørgen Gram

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

Factor VLeiden (FVL) and antithrombin (AT) deficiency are both known genetic risk factors for venous thromboembolism (VTE). The combination is rare and leads to significantly increased risk for VTE. In this case we present a 22-year-old woman with VTE while treated with oral contraceptives. Laboratory investigation of the patient and her relatives showed co-segregation of FVL and AT deficiency. This is the first Danish family reported with co-segregated FVL and AT deficiency, and this clarifies the importance for thorough laboratory screening of patients presenting VTE while treated with oral contraceptives.

OriginalsprogDansk
TidsskriftUgeskrift for Laeger
Vol/bind176
Udgave nummer25A
Sider (fra-til)96-97
ISSN0041-5782
StatusUdgivet - 15. dec. 2014

Fingeraftryk

Oral Contraceptives

Citer dette

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abstract = "Factor VLeiden (FVL) and antithrombin (AT) deficiency are both known genetic risk factors for venous thromboembolism (VTE). The combination is rare and leads to significantly increased risk for VTE. In this case we present a 22-year-old woman with VTE while treated with oral contraceptives. Laboratory investigation of the patient and her relatives showed co-segregation of FVL and AT deficiency. This is the first Danish family reported with co-segregated FVL and AT deficiency, and this clarifies the importance for thorough laboratory screening of patients presenting VTE while treated with oral contraceptives.",
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Kombineret antitrombinmangel og faktor VLeiden-mutation i en dansk familie. / Nielsen, Christiane; Gram, Jørgen.

I: Ugeskrift for Laeger, Bind 176, Nr. 25A, 15.12.2014, s. 96-97.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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AU - Gram, Jørgen

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N2 - Factor VLeiden (FVL) and antithrombin (AT) deficiency are both known genetic risk factors for venous thromboembolism (VTE). The combination is rare and leads to significantly increased risk for VTE. In this case we present a 22-year-old woman with VTE while treated with oral contraceptives. Laboratory investigation of the patient and her relatives showed co-segregation of FVL and AT deficiency. This is the first Danish family reported with co-segregated FVL and AT deficiency, and this clarifies the importance for thorough laboratory screening of patients presenting VTE while treated with oral contraceptives.

AB - Factor VLeiden (FVL) and antithrombin (AT) deficiency are both known genetic risk factors for venous thromboembolism (VTE). The combination is rare and leads to significantly increased risk for VTE. In this case we present a 22-year-old woman with VTE while treated with oral contraceptives. Laboratory investigation of the patient and her relatives showed co-segregation of FVL and AT deficiency. This is the first Danish family reported with co-segregated FVL and AT deficiency, and this clarifies the importance for thorough laboratory screening of patients presenting VTE while treated with oral contraceptives.

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