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

Overview
Journal Intern Med
Specialty General Medicine
Date 2022 Aug 9
PMID 35945029
Authors
Akihiro Tsuji
Toshiyuki Miyata
Akihiro Sekine
Reiko Neki
Koichi Kokame
Tsutomu Tomita
Yumi Kashima
Ryotaro Asano
Jin Ueda
Tatsuo Aoki
Takeshi Ogo
Affiliations
Soon will be listed here.
Abstract

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.

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