| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Aldiban, Weam Altawil, Yara Hussein, Samir Aljamali, Majd Youssef, Lama A. |
| Abstract | Background Warfarin is the most widely used oral anticoagulant; nevertheless, dosing of warfarin is problematic for clinicians worldwide. Inter-individual variability in response to warfarin is attributed to genetic as well as non-genetic factors. Pharmacogenomics studies have identified variants in CYP2C9 and VKORC1 genes as significant predictors of warfarin dose, however, phenotypes of rare variants are not well characterized. Case presentation We report a case of hyper-responsiveness to warfarin in a 22-year-old outpatient with Crohn's disease who presented with a swollen, red, and painful left calf. Deep venous thrombosis (DVT) in the left lower extremity was confirmed via ultrasonography, and hence, anticoagulation therapy of heparin and concomitant warfarin was initiated. Warfarin dose of 7.5 mg/day was estimated by the physician based on clinical factors. Higher than the expected international normalized ratio (INR) value of 4.5 necessitated the reduction of the warfarin dose to 5 and eventually to 2.5 mg/day to reach a therapeutic INR value of 2.6. Pharmacogenetic profiling of the VKORC1 -1639G > A and CYP2C9 *2, *3, *4, *5, *8, *14, *20, *24, *26, *33, *40, *41, *42, *43, *45, *46, *55, *62, *63, *66, *68, *72, *73 and *78 revealed a VKORC1-1639GA/CYP2C9*1*46 genotype. The lower catalytic activity of the CYP2C9*46 (A149T) variant was previously reported in in vitro settings. Conclusions This is the first report on a case of warfarin hyper-responsive phenotype of a patient with the heterozygous CYP2C9*1*46 polymorphism. |
| Related Links | https://thrombosisjournal.biomedcentral.com/counter/pdf/10.1186/s12959-022-00425-8.pdf |
| Ending Page | 6 |
| Page Count | 6 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 14779560 |
| DOI | 10.1186/s12959-022-00425-8 |
| Journal | Thrombosis Journal |
| Issue Number | 1 |
| Volume Number | 20 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2022-10-27 |
| Access Restriction | Open |
| Subject Keyword | Angiology Cardiology Hematology Hyper-responsiveness Warfarin INR CYP2C9 VKORC1 Polymorphism |
| Content Type | Text |
| Resource Type | Case study |
| Subject | Hematology |
| Journal Impact Factor | 2.6/2023 |
| 5-Year Journal Impact Factor | 3.1/2023 |
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