Study population characteristics stratified by genotype
| . | Total cohort (n = 83) . | Leu variant (n = 15) . | Val variant (n = 18) . | Thr variant (n = 50) . | P value . |
|---|---|---|---|---|---|
| Demographics | |||||
| Age of disease onset median (range) | 66 (41-80) | 66 (55-74) | 65 (50-72) | 66 (42-80) | .97 |
| Sex, n (%) | 83 (100) | 15 (100) | 18 (100) | 50 (100) | 1.00 |
| White, n (%) | 83 (100) | 15 (100) | 18 (100) | 50 (100) | 1.00 |
| Clinical diagnosis | |||||
| Relapsing polychondritis, n (%) | 43 (52) | 8 (53) | 4 (22) | 31 (62) | .01 |
| Undifferentiated fever syndrome, n (%) | 19 (23) | 1 (6) | 10 (55) | 8 (16) | <.01 |
| Sweet syndrome, n (%) | 18 (22) | 9 (60) | 2 (11) | 7 (14) | <.01 |
| MDS, n (%) | 26 (31) | 5 (33) | 8 (44) | 13 (26) | .35 |
| Clinical manifestations, n (%) | |||||
| Fever | 69 (83) | 13 (87) | 17 (94) | 39 (78) | .25 |
| Skin involvement | 68 (82) | 13 (87) | 15 (83) | 40 (80) | .82 |
| Arthritis | 48 (58) | 8 (53) | 10 (55) | 30 (60) | .87 |
| Pulmonary infiltrates | 47 (57) | 10 (67) | 10 (55) | 27 (54) | .67 |
| Ear chondritis | 45 (54) | 8 (53) | 4 (22) | 33 (66) | <.01 |
| Unprovoked DVT | 34 (41) | 9 (60) | 6 (33) | 19 (38) | .24 |
| Nose chondritis | 30 (36) | 5 (33) | 3 (16) | 21 (42) | .13 |
| Periorbital edema | 25 (30) | 3 (20) | 10 (55) | 12 (24) | .03 |
| Hearing loss | 24 (29) | 7 (47) | 4 (22) | 13 (26) | .25 |
| Ocular inflammation | 20 (24) | 1 (6) | 1 (5) | 18 (36) | <.01 |
| Pulmonary embolism | 11 (13) | 2 (13) | 4 (22) | 5 (10) | .45 |
| Pleural effusion | 11 (13) | 2 (13) | 4 (22) | 5 (10) | .45 |
| Orchitis | 10 (12) | 0 (0) | 4 (22) | 6 (12) | .07 |
| Airway chondritis | 1 (2) | 0 (0) | 0 (0) | 1 (2) | .60 |
| Number of DMARDs, median (IQR) | 2 (1-4) | 3 (1-5) | 2 (1-4) | 2 (1-4) | .62 |
| Hematologic manifestations | |||||
| IPSS-R score*, n (%) | |||||
| Very low risk | 9 (39) | 1 (11) | 2 (22) | 6 (66) | .72 |
| Low risk | 12 (52) | 2 (16) | 4 (33) | 6 (50) | .77 |
| Intermediate risk | 0 (0) | 0 (0) | 0 (0) | 0 (0) | N/A |
| High risk | 2 (4) | 0 (0) | 1 (50) | 1 (50) | .67 |
| Very high risk | 0 (0) | 0 (0) | 0 (0) | 0 (0) | N/A |
| Macrocytic anemia, n (%) | 81 (97) | 15 (100) | 18 (100) | 48 (96) | .35 |
| Thrombocytopenia, n (%) | 40 (83) | 7 (47) | 8 (44) | 25 (50) | .71 |
| UBA1 VAF median (IQR)† | 75 (57-85) | 64 (47-83) | 72 (52-86) | 76 (69-86) | .43 |
| . | Total cohort (n = 83) . | Leu variant (n = 15) . | Val variant (n = 18) . | Thr variant (n = 50) . | P value . |
|---|---|---|---|---|---|
| Demographics | |||||
| Age of disease onset median (range) | 66 (41-80) | 66 (55-74) | 65 (50-72) | 66 (42-80) | .97 |
| Sex, n (%) | 83 (100) | 15 (100) | 18 (100) | 50 (100) | 1.00 |
| White, n (%) | 83 (100) | 15 (100) | 18 (100) | 50 (100) | 1.00 |
| Clinical diagnosis | |||||
| Relapsing polychondritis, n (%) | 43 (52) | 8 (53) | 4 (22) | 31 (62) | .01 |
| Undifferentiated fever syndrome, n (%) | 19 (23) | 1 (6) | 10 (55) | 8 (16) | <.01 |
| Sweet syndrome, n (%) | 18 (22) | 9 (60) | 2 (11) | 7 (14) | <.01 |
| MDS, n (%) | 26 (31) | 5 (33) | 8 (44) | 13 (26) | .35 |
| Clinical manifestations, n (%) | |||||
| Fever | 69 (83) | 13 (87) | 17 (94) | 39 (78) | .25 |
| Skin involvement | 68 (82) | 13 (87) | 15 (83) | 40 (80) | .82 |
| Arthritis | 48 (58) | 8 (53) | 10 (55) | 30 (60) | .87 |
| Pulmonary infiltrates | 47 (57) | 10 (67) | 10 (55) | 27 (54) | .67 |
| Ear chondritis | 45 (54) | 8 (53) | 4 (22) | 33 (66) | <.01 |
| Unprovoked DVT | 34 (41) | 9 (60) | 6 (33) | 19 (38) | .24 |
| Nose chondritis | 30 (36) | 5 (33) | 3 (16) | 21 (42) | .13 |
| Periorbital edema | 25 (30) | 3 (20) | 10 (55) | 12 (24) | .03 |
| Hearing loss | 24 (29) | 7 (47) | 4 (22) | 13 (26) | .25 |
| Ocular inflammation | 20 (24) | 1 (6) | 1 (5) | 18 (36) | <.01 |
| Pulmonary embolism | 11 (13) | 2 (13) | 4 (22) | 5 (10) | .45 |
| Pleural effusion | 11 (13) | 2 (13) | 4 (22) | 5 (10) | .45 |
| Orchitis | 10 (12) | 0 (0) | 4 (22) | 6 (12) | .07 |
| Airway chondritis | 1 (2) | 0 (0) | 0 (0) | 1 (2) | .60 |
| Number of DMARDs, median (IQR) | 2 (1-4) | 3 (1-5) | 2 (1-4) | 2 (1-4) | .62 |
| Hematologic manifestations | |||||
| IPSS-R score*, n (%) | |||||
| Very low risk | 9 (39) | 1 (11) | 2 (22) | 6 (66) | .72 |
| Low risk | 12 (52) | 2 (16) | 4 (33) | 6 (50) | .77 |
| Intermediate risk | 0 (0) | 0 (0) | 0 (0) | 0 (0) | N/A |
| High risk | 2 (4) | 0 (0) | 1 (50) | 1 (50) | .67 |
| Very high risk | 0 (0) | 0 (0) | 0 (0) | 0 (0) | N/A |
| Macrocytic anemia, n (%) | 81 (97) | 15 (100) | 18 (100) | 48 (96) | .35 |
| Thrombocytopenia, n (%) | 40 (83) | 7 (47) | 8 (44) | 25 (50) | .71 |
| UBA1 VAF median (IQR)† | 75 (57-85) | 64 (47-83) | 72 (52-86) | 76 (69-86) | .43 |