Three Cases of Unprovoked Venous Thromboembolism with Prothrombin p.Arg596Gln Variant and a Literature Review of Antithrombin Resistance

Akihiro Tsuji; Toshiyuki Miyata; Akihiro Sekine; Reiko Neki; Koichi Kokame; Tsutomu Tomita; Yumi Kashima; Ryotaro Asano; Jin Ueda; Tatsuo Aoki; Takeshi Ogo

doi:10.2169/internalmedicine.9718-22

この記事には本公開記事があります。本公開記事を参照してください。
引用する場合も本公開記事を引用してください。

Three Cases of Unprovoked Venous Thromboembolism with Prothrombin p.Arg596Gln Variant and a Literature Review of Antithrombin Resistance

Akihiro Tsuji, Toshiyuki Miyata, Akihiro Sekine, Reiko Neki, Koichi Kokame, Tsutomu Tomita, Yumi Kashima, Ryotaro Asano, Jin Ueda, Tatsuo Aoki, Takeshi Ogo

著者情報

キーワード: antithrombin resistance, genetic variant, inherited thrombophilia, unprovoked thromboembolism

ジャーナルオープンアクセス早期公開

論文ID: 9718-22

DOI https://doi.org/10.2169/internalmedicine.9718-22

この記事には本公開記事があります。

The final version of this article is now available: Vol. 62 (2023), No. 6 pp. 885-888

詳細

抄録

Antithrombin resistance (ATR) is a newly identified strong genetic predisposition to venous thromboembolism (VTE) caused by genetic variations in prothrombin with substitutions of Arg at position 596 with either Leu, Gln, or Trp. In the present report, we identified a missense variant p.Arg596Gln in 3 patients from 2 families with unprovoked VTE who each experienced their first VTE event at 19, 67, and 19 years old. The three patients did not show any positive markers for thrombophilia on routine testing, suggesting that patients with unprovoked VTE who have negative findings on thrombophilia tests may carry a prothrombin variant with ATR.

責任著者(Corresponding author)

J-STAGEへの登録はこちら（無料）