Table 3.
Clinical characteristics of non-variant and variant carriers.
| Parameter | Non-Variant Carriers * Mean ± SD or % |
BMPR2 Patient | JAK2 PV Patient | JAK2 ET Patient | JAK2 MF Patient | JAK2 VUS Patient | |
|---|---|---|---|---|---|---|---|
| Age at diagnosis (years) | 57 | ± 12 | 49 | 81 | 65 | 66 | 51 |
| Male:Female | 0.8:1 | male | male | male | female | female | |
| 6-minute walking distance (m) | 432 | ± 91 | 360 | NA ** | 411 | 429 | 414 |
| Previous history of pulmonary embolisms (%) | 85 | yes | yes | Yes | yes | yes | |
| Family history of thrombosis / pulmonary embolisms (%) | 8 | absent | absent | absent | absent | PE | |
| Presence of myeloproliferative disease (%) | 0 | absent | yes | yes | yes | absent | |
| N-terminal pro-brain natriuretic peptide (ng/l) | 1566 | ± 4045 | 1386 | 12.630 *** | 2975 | 2533 | 104 |
| WHO functional class [26] II:III | 0.9:1 | III | III | II | II | III | |
| PEA (%) PEA + medication (%) BPA+ medication (%) PEA + BPA + medication (%) Medication only (%) |
38 18 12 3 29 |
riociguat | riociguat, macitentan, LTOT | PEA; riociguat, macitentan | PEA; riociguat | PEA; riociguat | |
| Mean pulmonary artery pressure (mmHg) | 45 | ± 14 | 51 | 45 | 35 | 32 | 41 |
| Pulmonary artery wedge pressure (mmHg) | 9 | ± 5 | 2 | 8 | 6 | 12 | 10 |
| Pulmonary vascular resistance (Wood Units) | 7.7 | ± 3.6 | 10.2 | 8.6 | 4.6 | 4.4 | 6.2 |
| Cardiac output (L/min) | 4.7 | ± 1.2 | 4.8 | NA | 5.0 | 4.5 | 5.0 |
| Cardiac index (L/min/m2) | 2.5 | ± 0.6 | 2.2 | 2.3 | 2.9 | 2.5 | 2.6 |
* n varies for each parameter; ** Patient suffered from arthrosis and had difficulty walking; In addition, the same patient had a chronic renal insufficiency; Abbreviations: BMPR2: bone morphogenetic protein receptor, BPA: balloon pulmonary angioplasty, ET: essential thrombocythemia, JAK2: Janus kinase 2, LTOT: long-term oxygen therapy, MF: myelofibrosis, NA: not available, PE: pulmonary embolism, PEA: pulmonary endarterectomy, PV: polycythaemia vera, SD: standard deviation, VUS: variant of uncertain significance, WHO: World Health Organization.