| Overall (N=147) | Children (N=68) | Adults (N=79) | PFS subtypes | |||
---|---|---|---|---|---|---|---|
CAPS (n=59) | TRAPS (n=40) | HIDS/MKD (n=12) | FMF (n=42) | ||||
PFS subtype, n (%) | |||||||
CAPS | 54 (36.7) | 23 (33.8) | 31 (39.2) | 54 (91.5) | 0 (0.0) | 0 (0.0) | 0 (0.0) |
 FCAS | 22 (15.0) | 8 (11.8) | 14 (17.7) | 22 (37.3) | 0 (0.0) | 0 (0.0) | 0 (0.0) |
 MWS | 24 (16.3) | 11 (16.2) | 13 (16.5) | 24 (40.7) | 0 (0.0) | 0 (0.0) | 0 (0.0) |
 Mixed CAPS phenotype | 8 (5.4) | 4 (5.9) | 4 (5.1) | 8 (13.6) | 0 (0.0) | 0 (0.0) | 0 (0.0) |
TRAPS | 39 (26.5) | 17 (25.0) | 22 (27.8) | 0 (0.0) | 39 (97.5) | 0 (0.0) | 0 (0.0) |
HIDS/MKD | 10 (6.8) | 6 (8.8) | 4 (5.1) | 0 (0.0) | 0 (0.0) | 10 (90.9) | 0 (0.0) |
FMF | 39 (26.5) | 19 (27.9) | 20 (25.3) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 39 (92.9) |
Mixed PFSa | 5 (3.4) | 3 (4.4) | 2 (2.5) | 5 (8.5) | 1 (2.5) | 1 (9.1) | 3 (7.1) |
Age at PFS diagnosis, mean (SD) | 16.5 (15.0) | 6.9 (4.0) | 24.8 (16.1) | 17.7 (16.7) | 17.6 (14.7) | 13.9 (15.2) | 13.5 (11.9) |
Time elapsed between initial symptoms and diagnosis, n (%) | |||||||
 <6 months | 10 (6.8) | 6 (8.8) | 4 (5.1) | 5 (8.5) | 1 (2.5) | 0 (0.0) | 4 (9.5) |
 6–12 months | 50 (34.0) | 27 (39.7) | 23 (29.1) | 24 (40.7) | 14 (35.0) | 1 (9.1) | 11 (26.2) |
 1–2 years | 52 (35.4) | 29 (42.6) | 23 (29.1) | 22 (37.3) | 15 (37.5) | 6 (54.5) | 13 (31.0) |
 2–5 years | 19 (12.9) | 5 (7.4) | 14 (17.7) | 3 (5.1) | 6 (15.0) | 3 (27.3) | 8 (19.0) |
 >5 years | 13 (8.8) | 0 (0.0) | 13 (16.5) | 5 (8.5) | 2 (5.0) | 1 (9.1) | 5 (11.9) |
 Unknown | 3 (2.0) | 1 (1.5) | 2 (2.5) | 0 (0.0) | 2 (5.0) | 0 (0.0) | 1 (2.4) |
Primary specialty of physician who has first diagnosed PFS, n (%) | |||||||
 Rheumatology | 75 (51.0) | 28 (41.2) | 47 (59.5) | 24 (40.7) | 24 (60.0) | 5 (45.5) | 24 (57.1) |
 Immunology | 29 (19.7) | 20 (29.4) | 9 (11.4) | 18 (30.5) | 3 (7.5) | 0 (0.0) | 10 (23.8) |
 Internal medicine | 15 (10.2) | 8 (11.8) | 7 (8.9) | 3 (5.1) | 8 (20.0) | 2 (18.2) | 2 (4.8) |
 Allergy | 15 (10.2) | 5 (7.4) | 10 (12.7) | 9 (15.3) | 3 (7.5) | 2 (18.2) | 2 (4.8) |
 Dermatology | 9 (6.1) | 5 (7.4) | 4 (5.1) | 4 (6.8) | 2 (5.0) | 1 (9.1) | 2 (4.8) |
 Otherb | 1 (0.7) | 1 (1.5) | 0 (0.0) | 1 (1.7) | 0 (0.0) | 0 (0.0) | 0 (0.0) |
 Unknown | 3 (2.0) | 1 (1.5) | 2 (2.5) | 0 (0.0) | 0 (0.0) | 1 (9.1) | 2 (4.8) |
Methods of diagnosis, n (%) | |||||||
 Assessment of clinical manifestations and complications (e.g., recurrent fever) | 128 (87.1) | 59 (86.8) | 69 (87.3) | 51 (86.4) | 35 (87.5) | 7 (63.6) | 39 (92.9) |
 Age of onset | 92 (62.6) | 43 (63.2) | 49 (62.0) | 37 (62.7) | 25 (62.5) | 8 (72.7) | 26 (61.9) |
 Assessment of family history/ancestry | 84 (57.1) | 43 (63.2) | 41 (51.9) | 38 (64.4) | 21 (52.5) | 6 (54.5) | 22 (52.4) |
 Exclusion/rule-out diagnostics (e.g., infection, neoplasms) | 77 (52.4) | 36 (52.9) | 41 (51.9) | 31 (52.5) | 17 (42.5) | 4 (36.4) | 28 (66.7) |
 Assessment of triggers (e.g., menstruation, vaccination, stress, cold, infection) | 76 (51.7) | 39 (57.4) | 37 (46.8) | 32 (54.2) | 18 (45.0) | 6 (54.5) | 22 (52.4) |
 Genetic tests | 65 (44.2) | 36 (52.9) | 29 (36.7) | 27 (45.8) | 10 (25.0) | 6 (54.5) | 25 (59.5) |
 Laboratory assessments (e.g., CRP, ESR, SAA) | 63 (42.9) | 31 (45.6) | 32 (40.5) | 24 (40.7) | 13 (32.5) | 5 (45.5) | 23 (54.8) |
 Response to trial therapy | 42 (28.6) | 23 (33.8) | 19 (24.1) | 17 (28.8) | 4 (10.0) | 2 (18.2) | 22 (52.4) |
 Otherc | 1 (0.7) | 1 (1.5) | 0 (0.0) | 1 (1.7) | 0 (0.0) | 0 (0.0) | 0 (0.0) |
Combination of methods used for diagnosis, n (%) | |||||||
 >1 diagnosis method | 128 (87.1) | 63 (92.6) | 65 (82.3) | 52 (88.1) | 33 (82.5) | 9 (81.8) | 38 (90.5) |
 >2 diagnosis method | 108 (73.5) | 54 (79.4) | 54 (68.4) | 44 (74.6) | 25 (62.5) | 7 (63.6) | 36 (85.7) |
Diagnoses ruled out prior to the confirmed diagnosis, n (%) | |||||||
 Fever of unknown origin | 103 (70.1) | 50 (73.5) | 53 (67.1) | 41 (69.5) | 26 (65.0) | 8 (72.7) | 32 (76.2) |
 Urticaria or rash/allergy | 80 (54.4) | 34 (50.0) | 46 (58.2) | 32 (54.2) | 20 (50.0) | 6 (54.5) | 25 (59.5) |
 Recurrent infection | 75 (51.0) | 41 (60.3) | 34 (43.0) | 26 (44.1) | 19 (47.5) | 4 (36.4) | 28 (66.7) |
 Systemic lupus erythematosus | 36 (24.5) | 18 (26.5) | 18 (22.8) | 13 (22.0) | 9 (22.5) | 2 (18.2) | 12 (28.6) |
 Vasculitis (e.g., polyarthritis nodosa, Behcet’s disease) | 47 (32.0) | 22 (32.4) | 25 (31.6) | 20 (33.9) | 10 (25.0) | 4 (36.4) | 14 (33.3) |
 Pharyngitis | 43 (29.3) | 19 (27.9) | 24 (30.4) | 22 (37.3) | 9 (22.5) | 2 (18.2) | 12 (28.6) |
 Rheumatoid arthritis | 32 (21.8) | 11 (16.2) | 21 (26.6) | 12 (20.3) | 11 (27.5) | 2 (18.2) | 8 (19.0) |
 Neoplasms | 35 (23.8) | 17 (25.0) | 18 (22.8) | 15 (25.4) | 9 (22.5) | 1 (9.1) | 10 (23.8) |
 Other juvenile idiopathic arthritis | 25 (17.0) | 18 (26.5) | 7 (8.9) | 10 (16.9) | 7 (17.5) | 1 (9.1) | 7 (16.7) |
 Inflammatory bowel disease | 21 (14.3) | 9 (13.2) | 12 (15.2) | 7 (11.9) | 3 (7.5) | 4 (36.4) | 7 (16.7) |
 PFS subtype other than the final diagnosis | 12 (8.2) | 10 (14.7) | 2 (2.5) | 7 (11.9) | 1 (2.5) | 0 (0.0) | 4 (9.5) |
 No rule-out diagnosis | 9 (6.1) | 3 (4.4) | 6 (7.6) | 1 (1.7) | 8 (20.0) | 1 (9.1) | 0 (0.0) |
 Otherd | 5 (3.4) | 1 (1.5) | 4 (5.1) | 1 (1.7) | 1 (2.5) | 0 (0.0) | 3 (7.1) |