POS1360 MONOGENIC AUTO-INFLAMMATORY DISEASES IN ADULTS IN THE PRACTICE OF A RHEUMATOLOGIST
Authors: S. Salugina, E. Fedorov, T. Dubinina, S. Palshina
Journal: Annals of the Rheumatic Diseases (2021)

Background: The group of the most common monogenic auto-inflammatory diseases (mAIDs) includes FMF, TRAPS, HIDS, CAPS. Descriptions of these diseases are widely presented in the literature, but they are not well covered among adults. MAIDs in the adult rheumatological practice are found: 1) in pts with the onset and diagnostics of the disease in their childhood; 2) in pts with juvenile onset, but diagnostics of the disease in their adulthood; 3) in pts with the onset of the disease in adulthood. Adult specialists, in contrast to pediatricians, are not very well aware of the clinical and laboratory picture, course, age characteristics, approaches to treatment, consequences of mAID, which leads to late diagnostics and untimely prescription of targeted therapy, development of complications (amyloidosis) and damage to organs, life quality impairment. Objectives: To characterize adult patients with mAIDs in the practice of a rheumatologist. Methods: Within the period from 2009 to 2020, 123 patients with mAIDs (FMF-53, CAPS-44, TRAPS-21, HIDS-5) were diagnosed, of which 50 were adults. All pts underwent a standard rheumatological examination, including ESR, CRP, ophthalmological and other instrumental examinations, audiogram, if required. Molecular genetic analysis of genes MEFV, TNFRSF1A, MVK, NLRP3 was performed in all pts. All but one patient with CAPS (CINCA / NOMID) showed feature genetic mutations. Results: The study included 50 pts aged 18 to 66 years, 35 women, 15 men. The age of onset was from 0 to 53 years, in 88% of cases the onset of the disease was noted in childhood, 6 pts debuted at the age over 18 years (4 with FMF - 23-35 years; 2 CAPS - 51 and 53 years). As of the time of inclusion into the study, the duration of the disease ranged from 6 months to 59 years. All patients had fever, skin rashes were present in the majority (72%) of pts with CAPS (urticaria), TRAPS (erythematous and anulyariform) and HIDS (spotted), in half of pts with FMF (erysipeloid erythema). Articular manifestations were present in the majority of pts (80%), oligoarthritis in 38%, mainly in pts with CAPS (35%) and FMF (47.8%). Polyarthritis occurred in 18% of pts. Ophthalmic changes (32%) in the form of conjunctivitis and/or uveitis were more common in patients with CAPS (65%), sensorineural deafness only in pts with CAPS (40%), stomatitis in 16% in pts, more often in case of CAPS (35%). Family history is aggravated in almost half of pts. All pts showed an increase in ESR and CRP performance. Colchicine treatment was used mainly in patients with FMF. Glucocorticoids (GC) and biological agents (IL-1 inhibitors) were more often received by pts with CAPS (55% and 60%). Table 1. Clinical and demographic characteristics of adult patients with mAIDs AIDs FMF (23) CAPS (20) TRAPS (5) HIDS (2) N (%) Fever 23(100) 20 (100) 5 (100) 2 (100) 50 (100) Rash 11(47,8) 18 (90) 5 (100) 2 (100) 36 (72) Joints 17 (73,9) 16 (80) 5 (100) 2 (100) 40(80) eye symptoms 1(4,3) 13 (65) 2 (40) - 16(32) Sensorineural hearing loss - 8 (40) - - Family history 11(47,8) 8 (40) 3 (60) - 22 (44) Colchicine 23 1 2 - 26 (52) Steroids 3 11 3 2 19 (38) Biological therapy 5 12 3 1 21 (42) Etanercept 2 - 1 - 3 (6) Adalimumab 1 1 - - 2 (4) Tocilizumab 1 2 - 1 4 (8) Canakinumab 1 7 2 - 10 (20) Anakinra 1 5 - - 6 (12) Conclusion: The study of the peculiarities of the course of mAIDs in adults, increase in the awareness of adult rheumatologists about these diseases will improve and speed up diagnostics, develop approaches to treatment and management algorithms in order to improve the prognosis and quality of patients’ life. Disclosure of Interests: None declared