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Background: Autoinflammatory diseases (AIDS) are a group of rare monogenic and multifactorial diseases manifested by systemic inflammation, organ disorders, the development of complications, primarily amyloidosis, and possible death without timely targeted therapy. Rapid diagnosis contributes to the early appointment of treatment, prevention of the development of organ damage and improvement of prognosis in such patients.
Objectives: To establish the age of the onset and the duration of the delay of diagnosis in patients (pts) with monogenic AIDS (m AIDS) and systemic juvenile idiopathic arthritis (sJIA) according to the Federal Rheumatology Center.
Methods: 273 pts were included in the study for the period from 2007 to 2021, 158 of them with mAIDS: FMF - 75, CAPS - 50, TRAPS - 28, HIDS/MKD - 5; 115 pts with sJIA.
Results: The age of pts with mAIDS ranged from 6 months to 65 y.o. (120 children and 38 adults), among pts with sJIA there were only children aged 12 months to 17 y.o. Most of the pts with CAPS, TRAPS, HIDS/MKD were female (62.4%), as with sJIA (57.4%). FMF was more often affected by male persons (56.6%). The age of the onset of mAIDS ranged from 0 to 53 y.o., sJIA - from 4 months to 15 y.o., was the smallest in pts with CAPS and HIDS/MKD. 33.5% pts with mAIDS had the onset of the disease from birth or within the first year of life, more often with CAPS and HIDS /MKD, in the first decade of life in half of the pts (52.5%), more often in FMF and TRAPS, from 10 to 18 years - 8.2%, in adulthood - 5.7%. In pts with sJIA, the onset of the disease was mainly in the first 5 years of life – 69 (60%), from 5-10 years – 38 (33%), rarely in the first year of life and after 10 years of age (6.95%). The duration of the disease at the time of diagnosis ranged from 1 month to 48 years in FMF pts, from 1 month to 46 years with CAPS, from 3 months to 59 years with TRAPS, from 3.5 to 16.5 years with HIDS/MKD, from 3 weeks to 7.8 years with sJIA. Within 1 year the diagnosis was established in 15.2% of children with mAIDS, in 12.2% with sJIA, in the first 5 years of the disease in 35.4% and 15.6% respectively. The delay in diagnosis for more than 5 and 10 years was observed in 24.1% and 25.9% of pts with mAIDS, practically did not occur in sJIA. The least delay in diagnosis was noted in pts with FMF.
| FMF | CAPS | TRAPS | HIDS/MKD | sJIA | |
|---|---|---|---|---|---|
| Age (me, IQR) y | 10,5[6,0;15,4] | 13[7,0;31,5] | 9,0[7,9;14,5] | 9,0[5,0;17] | 4,5[2,8;7,6] |
| Age of onset | 3[1,5;5] | 1,0[0,15;7,0] | 4,0[1,0;7,1] | 0,5[0,4;1,5] | 4,2[2,1;6,75] |
| (me, IQR), y | 18 (24%) | 24(48%) | 8 (28,6%) | 3 (60%) | 8 (6,95%) |
| ≤1y | 46 (61,3%) | 18 (36%) | 17 (60,7%) | 2 (40%) | 99 (86,1%) |
| >1-10y | 7 (9,3%) | 5 (10%) | 1 (3,6%) | - | 8 (6,95%) |
| >10-18y | 4 (5,3%) | 3 (6%) | 2 (7,1%) | - | - |
| >18y | |||||
| Delayed diagnosis (me, IQR), y | 10,5[6,0;15,4] | 13[7,0;31,5] | 9,0[7,9;14,5] | 9,0[5,0;17] | 0,25[0,1;0,5] |
| ≤1y | 11 (14,7%) | 9 (18%) | 4 (14,3%) | - | 14 (12,2%) |
| >1-5y | 30 (40%) | 12 (24%) | 12 (42,9%) | 2 (40%) | 18 (15,6%) |
| >5-10y | 20 (26,7%) | 11 (22%) | 6 (21,4%) | 1 (20%) | 1 (0,9%) |
| >10y | 13 (17,3%) | 18 (36%) | 8 (28,6%) | 2 (40%) | - |
Conclusion: Most of the pts with mAIDS had the onset of the disease in the first 5-10 years of life, an earlier age of onset was noted in pts with CAPS and HIDS/MKD. To date, the delay in diagnosis in pts with mAIDS remains very long and reaches decades, especially with CAPS, TRAPS and HIDS/MKD. In pts with sJIA, the diagnosis was established faster, according our opinion a later diagnosis is associated with a polycyclic course of the disease. Earlier diagnosis and the appointment of targeted therapy are needed, which will help to avoid complications, improve the prognosis and quality of life of pts.
Disclosure of Interests: None declared