AI Article Synopsis
- Antithrombin resistance (ATR) is a newly discovered genetic trait that increases the risk for venous thromboembolism (VTE) due to specific genetic changes in prothrombin.
- A study identified a specific variant (p.Arg596Gln) in three patients from two families who experienced VTE without any obvious triggers, at ages 19 and 67.
- These patients tested negative for common thrombophilia markers, implying that unprovoked VTE cases with negative tests might still involve a genetic variant linked to ATR.
Article 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.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10076131 | PMC |
| http://dx.doi.org/10.2169/internalmedicine.9718-22 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!