Table 3 Specific Medical therapy for PAH with BMPR2 mutations or biallelic EIF2AK4 variants
BMPR2 (N = 45) | EIF2AK4 (N = 11) | |
|---|---|---|
ERA monotherapy | 5(11.1) | 0 |
PDE5 inhibitor monotherapy | 21(46.7) | 5(45.5) |
Prostacyclin derivative monotherapy | 1(2.2) | 1(9.1) |
ERA plus PDE5 | 14(31.3) | 3(27.3) |
ERA plus prostacyclin derivative | 1(2.2) | 0 |
PDE5 inhibitor plus prostacyclin derivative | 1(2.2) | 0 |
ERA plus PDE5 inhibitor plus prostacyclin derivative | 1(2.2) | 0 |
No specific PAH therapy | 1(2.2) | 2(18.2) |