Clinical manifestations reported in patients with TRAPS at disease presentation by age and mutation group
| Whole TRAPS population | Pediatric patients (A) | Adults with pediatric onset (B) | Adults with adult onset (C) | Cysteine or T50M (D) | Other mutations (E) | Low-penetrance mutations (F) | |||
|---|---|---|---|---|---|---|---|---|---|
| (n=158) | (n=53) | (n=70) | (n=35) | (n=58) | (n=39) | (n=59) | |||
| Number of patients | Number (%) | Number (%) | Number (%) | Number (%) | p Value* | Number (%) | Number (%) | Number (%) | p Value* |
| Mucocutaneous | |||||||||
| Exudative pharyngitis | 5 (3) | 3 (6) | 1 (1.5) | 1 (3) | NS | 2 (3) | 0 | 3 (5) | NS |
| Erythematous pharyngitis | 28 (18) | 12 (23) | 11 (16) | 5 (14) | NS | 7 (12) | 7 (18) | 14 (24) | NS |
| Aphthous stomatitis | 15 (9.5) | 7 (13) | 4 (6) | 4 (11) | NS | 3 (5) | 4 (10) | 8 (14) | NS |
| Palpable purpura | 1 (0.5) | 1 (2) | 0 | 0 | NS | 0 | 0 | 1 (2) | NS |
| Maculopapular rash | 41 (26) | 17 (32) | 17 (24) | 7 (20) | NS | 14 (24) | 15 (38) | 12 (20) | NS |
| Urticarial rash | 39 (25) | 12 (23) | 20 (29) | 7 (20) | NS | 15 (26) | 11 (28) | 13 (22) | NS |
| Migratory rash | 28 (18) | 9 (17) | 16 (23) | 3 (9) | NS | 16 (28)* | 7 (18) | 5 (8) | 0.01 |
| Erysipelas-like erythema | 7 (4) | 1 (2) | 6 (9) | 0 | 0.04 | 6 (10)† | 0 | 1 (2) | 0.03 |
| Localised erythema | 4 (2.5) | 1 (2) | 2 (3) | 1 (3) | NS | 0 | 2 (5) | 2 (3) | NS |
| Generalised erythema | 3 (2) | 1 (2) | 1 (1.5) | 1 (3) | NS | 0 | 1 (3) | 2 (3) | NS |
| Pseudo-folliculitis | 3 (2) | 1 (2) | 1 (1.5) | 1 (3) | NS | 0 | 1 (3) | 2 (3) | NS |
| Musculoskeletal | |||||||||
| Arthralgia | 101 (64) | 34 (64) | 48 (69) | 19 (54) | NS | 34 (58) | 28 (72) | 39 (66) | NS |
| Myalgia | 111 (70) | 36 (68) | 53 (76) | 22 (63) | NS | 43 (74) | 29 (74) | 39 (66) | NS |
| Myositis | 3 (1.5) | 1 (2) | 2 (3) | 0 | NS | 3 (5) | 0 | 0 | 0.04 |
| Fasciitis | 6 (4) | 0* | 5 (7) | 1 (3) | 0.04 | 4 (7) | 1 (3) | 1 (2) | NS |
| Bone pain | 6 (4) | 2 (4) | 2 (3) | 2 (6) | NS | 2 (3) | 0 | 4 (7) | NS |
| Monoarthritis | 9 (6) | 4 (8) | 2 (3) | 2 (4) | NS | 4 (7) | 1 (3) | 4 (7) | NS |
| Oligoarthritis | 15 (9.5) | 2 (4) | 9 (13) | 4 (11) | NS | 8 (14) | 2 (5) | 5 (8) | NS |
| Polyarthritis | 2 (4) | 1 (1.2) | 2 (3) | 5 (14) | 0.04 | 2 (3) | 1 (3) | 1 (2) | NS |
| Ocular | |||||||||
| Periorbital oedema | 32 (20) | 8 (15) | 21 (30) | 2 (4) | NS | 14 (24) | 8 (20) | 10 (17) | NS |
| Periorbital pain | 20 (13) | 6 (11) | 10 (14) | 4 (11) | NS | 12 (21)* | 2 (5) | 6 (10) | 0.03 |
| Conjunctivitis | 35 (22) | 6 (11) | 23 (33) | 6 (17) | NS | 18 (31)† | 17 (44)‡ | 10 (17) | 0.02 |
| Gastrointestinal | |||||||||
| Vomiting | 28 (18) | 13 (25) | 9 (13) | 6 (17) | NS | 6 (10) | 7 (18) | 15 (26) | NS |
| Abdominal pain | 110 (70) | 38 (72) | 53 (76)‡ | 19 (54) | 0.05 | 47 (81) | 27 (69) | 36 (61) | NS |
| Constipation | 21 (13) | 2 (3.8)*† | 12 (17) | 7 (20) | 0.01 | 13 (22)* | 2 (5) | 6 (10) | 0.02 |
| Diarrhoea | 28 (18) | 12 (23) | 10 (14) | 6 (17) | NS | 11 (19) | 7 (18) | 10 (17) | NS |
| GI bleeding | 3 (1.5) | 0 | 1 (1.5) | 2 (6) | NS | 3 (5.1) | 0 | 1 (2) | NS |
| Aseptic peritonitis | 10 (6) | 0 | 9 (13) | 1 (3) | 0.01 | 5 (9) | 2 (5) | 3 (5) | NS |
| Lymphoid organs | |||||||||
| Generalised enlargement | 12 (8) | 6 (11) | 5 (7) | 1 (3) | NS | 5 (9) | 3 (8) | 4 (7) | NS |
| Enlarged cervical lymph nodes | 41 (26) | 23 (43) | 15 (21) | 2 (4) | 0.01 | 16 (28) | 10 (26) | 15 (25) | NS |
| Inguinal lymphadenopathy | 2 (1) | 1 (2) | 0 | 1 (3) | NS | 0 | 0 | 2 (3) | NS |
| Lymph node pain | 21 (13) | 10 (19) | 10 (14) | 1 (3) | NS | 9 (16) | 5 (13) | 7 (12) | NS |
| Hepatomegaly | 9 (6) | 5 (9) | 4 (6) | 0 | NS | 4 (7) | 3 (8) | 2 (3) | NS |
| Splenomegaly | 12 (8) | 6 (11) | 4 (6) | 2 (6) | NS | 3 (5) | 5 (13) | 4 (7) | NS |
| Cardiorespiratory | |||||||||
| Chest pain | 40 (25) | 7 (13)*† | 17 (24)‡ | 16 (46) | 0.002 | 13 (22) | 14 (36) | 13 (22) | NS |
| Pericarditis | 11 (7) | 1 (2)† | 2 (3)‡ | 8 (23) | 0.001 | 0*† | 5 (13) | 6 (10) | 0.005 |
| Pleurisy | 19 (12) | 1 (2)*† | 8 (11) | 10 (29) | 0.001 | 3 (5)* | 10 (26) | 6 (10) | 0.02 |
| Pneumonia | 2 (1) | 1 (2) | 0 | 1 (3) | NS | 0 | 2 (5) | 0 | NS |
| Persistent cough | 7 (4) | 0*† | 4 (6) | 3 (9) | 0.03 | 3 (5) | 1 (3) | 3 (5) | NS |
| Neurological | |||||||||
| Headache | 36 (23) | 17 (32) | 10 (14) | 9 (26) | NS | 5 (9)*† | 8 (21) | 23 (39) | 0.001 |
| Seizures | 2 (1) | 1 (2) | 1 (1.5) | 0 | NS | 1 (2) | 0 | 1 (2) | NS |
| Vertigo | 2 (1) | 2 (4) | 0 | 0 | NS | 0 | 0 | 0 | NS |
| Genitourinary | |||||||||
| Gonadal pain | 4 (3) | 0 | 4 (6) | 0 | NS | 1 (2) | 2 (5) | 1 (2) | NS |
| Amyloidosis | 16 (10) | 1 (2)* | 13 (18) | 2 (6) | 0.003 | 8 (16)* | 7 (18)‡ | 1 (2) | 0.008 |
p, Pearson χ2 for heterogeneity.
Post hoc analysis for pairwise comparison for age of onset: *group A versus group B, p<0.05; †group A versus C p<0.05; ‡group B versus group C, p<0.05.
Post hoc analysis for pairwise comparison for genotype: *group D versus group E, p<0.05; †group D versus group F, p<0.05; ‡group E versus group F, p<0.05.