Table 3.
Clinical and laboratory characteristics of the type IIHBS antithrombin-deficient cohort.
| All (n = 230) | AT Basel(n = 9) | AT Padua (n = 26) | AT Budapest3 HoZ(n = 44) | AT Budapest3 HeZ (n = 151) | p-value | |
|---|---|---|---|---|---|---|
| Current age yearsa (median; min–max); IQR | 34 (2–76);26 | 51 (28–65);23 | 42 (18–70);23 | 24 (2–69);21 | 34 (2–74);26 | <0.001 |
| Male/female (n) | 93/137 | 3/6 | 6/20 | 22/22 | 62/89 | 0.162 |
| Index pts/relativesb (n) | 162/68 | 7/2 | 22/4 | 36/8 | 97/54 | 0.041 |
| Any thrombotic event Y/Nc (n) | 131/99 | 5/4 | 12/14 | 41/3 | 73/78 | <0.001 |
| Age at first thrombotic event yearsd (median; min–max); IQR | 26 (0–68);24 | 42 (15–51);34 | 50 (22–66);17 | 15 (0–48);16 | 33 (0–68);19 | <0.001 |
| VT %e | 52 | 11 | 38 | 93 | 44 | <0.001 |
| Recurrent VT % within VT patients | 35 | 0 | 29 | 38 | 34 | 0.831 |
| ATE %f | 8 | 44 | 8 | 5 | 6.6 | <0.001 |
| Ratio of FVL carriers HeZ/HoZ % | 21/2 | 0 | 24/0 | 9/0 | 25/3 | 0.261 |
| Ratio of FII 20210A carriers HeZ % | 3.9 | 0 | 7.6 | 5.9 | 2.9 | 0.738 |
| Antithrombin activity %f (median; min–max); IQR | 56 (9–78);11 | 57 (44–74);11 | 57.5 (40–74);12 | 17 (9–59);10 | 57 (37–78);8 | <0.001 |
| Antithrombin progressive activity %g(median; min–max); IQR | 85 (56–126);15 | 100 (73–117);17 | 105 (73–126);23 | 73 (56–100);11 | 85 (60–114);10 | <0.001 |
| Antithrombin antigen g/Lg(median; min-max); IQR | 0.25 (0.13–0.35);0.05 | 0.3 (0.25–0.32);0.03 | 0.3 (0.24–0.35);0.04 | 0.2 (0.13–0.28);0.03 | 0.25 (0.17–0.31);0.04 | <0.001 |
Isolated PE was diagnosed in 14 cases (n = 3 AT Padua, n = 3 ATBp3 HoZ, n = 8 ATBp3 HeZ).
IQR, interquartile range; HeZ, heterozygote; HoZ, homozygote.
Current age of ATBp3 homozygotes is significantly lower than current age of other groups (p < 0.001 as compared with AT Basel and Padua and p = 0.006 as compared with ATBp3 HeZ); current age of ATBp3 heterozygotes is significantly lower than current age of AT Padua (p = 0.014).
Ratio of index patients vs. relatives was lower in ATBp3 HeZ than in other groups (ATBp3 HoZ vs. ATBp3 HeZ p = 0.028, AT Padua vs. ATBp3 HeZ p = 0.044, AT Basel vs. ATBp3 HeZ p = 0.496).
Prevalence of any thrombotic events was the highest in ATBp3 homozygous group (AT Basel vs. ATBp3 HoZ p = 0.012, AT Padua vs. ATBp3 HoZ p < 0.001, ATBp3 HeZ vs ATBp3 HoZ p < 0.001).
Age at first thrombotic event of ATBp3 homozygotes is significantly lower than that of other groups (p < 0.001 as compared with ATBp3 HeZ and AT Padua and p = 0.005 as compared with AT Basel). Age at first thrombotic event of ATBp3 heterozygotes is significantly lower than that of AT Padua (p = 0.002).
Prevalence of VT events was the highest in ATBp3 homozygous group (AT Basel vs. ATBp3 HoZ p < 0.001, AT Padua vs. ATBp3 HoZ p < 0.001, ATBp3 HeZ vs ATBp3 HoZ p < 0.001).
Antithrombin heparin cofactor and progressive activity and AT antigen of ATBp3 homozygotes are significantly lower than AT activity and antigen of other groups (p < 0.001 in all comparisons).
Progressive antithrombin activity and AT antigen of ATBp3 heterozygotes are significantly lower than AT activity and antigen of AT Basel and Padua (p = 0.004 and p < 0.001 for AT progressive activity, respectively, and p < 0.001 for AT antigen for both).