Principal demographic features and clinical manifestations in gold standard patients
| Characteristic | FMF (291 patients) | MKD (74 patients) | TRAPS (86 patients) | CAPS (67 patients) | PFAPA (199 patients) |
|---|---|---|---|---|---|
| Age (years), median (25°–75°) | 11.9 (8.3–14.9) | 11.31 (6.6–22.3) | 34.2 (14.9–44.9) | 15.1 (9.0–42.7) | 5 (3.7–7.5) |
| Gender, male/female | 161/130 | 36/38 | 43/43 | 34/33 | 112/87 |
| Positive family history, % | 42.3 | 33.8 | 66.3 | 60.9 | 7.6 |
| Age at onset (years), median (25°–75°) | 2.7 (1.1–5.3) | 0.4 (0.1–1.4) | 2.8 (0.6–8.8) | 0.7 (0.1–2.9) | 1.6 (1–3.5) |
| Duration of disease (years), median (25°–75°) | 7.2 (4.2–11.1) | 9.8 (5.8–20.8) | 21.1 (10.7–37.1) | 13.1 (7.0–40.1) | 2.8 (1.7–4.3) |
| Abdominal pain, % | 93 | 86 | 74 | 11 | 36 |
| Aphthous stomatitis, % | 5 | 62 | 6 | 18 | 68 |
| Arthralgia, % | 79 | 69 | 64 | 92 | 26 |
| Aseptic peritonitis, % | 20 | 6 | 8 | 0 | 0 |
| Bone alteration, % | 1 | 1 | 1 | 27 | 0 |
| Chest pain, % | 63 | 11 | 25 | 4 | 1 |
| Conjunctivitis, % | 5 | 11 | 36 | 71 | 4 |
| Diarrhoea, % | 27 | 86 | 16 | 3 | 10 |
| Enlarged cervical lymph nodes, % | 18 | 89 | 40 | 15 | 70 |
| Erythematous pharyngitis, % | 23 | 41 | 14 | 6 | 63 |
| Exudative pharyngitis, % | 8 | 31 | 2 | 2 | 74 |
| Fatigue, % | 40 | 68 | 83 | 65 | 22 |
| Generalised enlargement of lymph nodes, % | 3 | 36 | 10 | 13 | 5 |
| Headache (any time), % | 25 | 52 | 14 | 69 | 16 |
| Maculopapular rash, % | 6 | 37 | 31 | 19 | 6 |
| Migratory rash, % | 0 | 1 | 28 | 8 | 0 |
| Myalgia, % | 63 | 53 | 75 | 51 | 14 |
| Neurosensorial hearing loss, % | 0 | 2 | 0 | 44 | 0 |
| Oligoarthritis, % | 30 | 14 | 10 | 25 | 1 |
| Painful lymph nodes, % | 12 | 60 | 22 | 3 | 18 |
| Papilloedema, % | 0 | 0 | 0 | 31 | 0 |
| Pericarditis, % | 24 | 3 | 12 | 3 | 0 |
| Periorbital oedema, % | 1 | 0 | 25 | 3 | 1 |
| Pleurisy, % | 40 | 3 | 12 | 0 | 0 |
| Urticarial rash, % | 5 | 17 | 29 | 100 | 3 |
| Vomiting, % | 50 | 68 | 13 | 7,5 | 14 |
CAPS, cryopyrin-associated periodic syndromes; FMF, familial Mediterranean fever; MKD, mevalonate kinase deficiency; PFAPA, periodic fever, aphthosis, pharyngitis and adenitis; TRAPS, receptor-associated periodic fever syndrome.