Three Cases of Unprovoked Venous Thromboembolism with Prothrombin p.Arg596Gln Variant and a Literature Review of Antithrombin Resistance.
Intern Med
; 62(6): 885-888, 2023 Mar 15.
Article
en En
| MEDLINE
| ID: mdl-35945029
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Trombofilia
/
Tromboembolia Venosa
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Intern Med
Asunto de la revista:
MEDICINA INTERNA
Año:
2023
Tipo del documento:
Article
País de afiliación:
Japón