Table 2 Clinical features of AID patient cohort
From: Clinical and psychological phenomenology of pain in autoinflammatory diseases
All | NLRP3 low penetrance variants | MEFV low penetrance variants | TNFRSF1A low penetrance variants | |
|---|---|---|---|---|
Disease course | ||||
-Recurrent | 14 (64%) | 7 (32%) | 5 (23%) | 2 (9%) |
-Chronic | 0 | 0 | 0 | 0 |
-Chronic with flares | 8 (36%) | 4 (18%) | 2 (9%) | 2 (9%) |
Age at disease onset (y) | 28 ± 4 | 36 ± 4 | 18 ± 3 | 31 ± 5 |
Diagnostic latency (y) | 11 ± 4 | 8 ± 2 | 14 ± 3 | 12 ± 7 |
Positive family history | 14 (64%) | 4 (18%) | 6 (27%) | 4 (18%) |
Organ involvement | ||||
-Musculoskeletal | 18 (82%) | 7 (32%) | 5 (23%) | 6 (27%) |
-Eyes | 9 (41%) | 5 (23%) | 2 (9%) | 2 (9%) |
-Skin | 12 (55%) | 5 (23%) | 2 (9%) | 5 (23%) |
-Gastrointestinal tract | 14 (64%) | 4 (18%) | 5 (23%) | 5 (23%) |
-CNS | 17 (77%) | 8 (36%) | 4 (18%) | 5 (23%) |
Constitutional symptoms | ||||
-Fatigue | 13 (59%) | 7 (32%) | 2 (9%) | 4 (18%) |
-Fever | 12 (55%) | 4 (18%) | 4 (18%) | 4 (18%) |
Elevation of inflammatory markers | ||||
-SAA | 14 (64%) | 6 (27%) | 4 (18%) | 4 (18%) |
-CRP | 8 (36%) | 2 (9%) | 5 (23%) | 1 (5%) |
-Leukocytosis | 10 (46%) | 6 (27%) | 2 (9%) | 2 (9%) |
CSF (n = 11) | ||||
-Abnormal | 8 (36%) | 5 (23%) | 1 (5%) | 2 (9%) |
MRI (n = 16) | ||||
-Abnormal | 10 (46%) | 7 (32%) | 1 (5%) | 2 (9%) |
AID specific treatment | ||||
-Colchicine | 4 (18%) | 0 (0%) | 3 (14%) | 1 (5%) |
-Anti IL-1 therapy | 10 (46%) | 6 (27%) | 1 (5%) | 3 (14%) |