Background The autoinflammatory diseases (AD) are uncommon, most of them are presented as episodes of recurrent fever and may be accompanied by other inflammatory symptoms. This group of diseases includes polygenic entities (without a single known genetic mutation) such as Behçet's disease (BD), systemic-onset juvenile idiopathic arthritis (soJIA), Chronic recurrent multifocal osteomyelitis (CRMO) and PFAPA syndrome. On the other hand, we found the entities that present with specific monogenic mutations, such as Familial Mediterranean Fever (FMF), TNF receptor-associated periodic syndrome (TRAPS), hyper-IgD syndrome and periodic fever (HIDS), cryopyrinopathies (FCAS, MWS, CINCA), Blau's syndrome and PAPA. A group of patients who can not be classified into a specific diagnosis are clustered as recurrent fever without known genetic anomaly (RFW).
Objectives To describe and compare the clinical features of monogenic and polygenic AD and RFW seen in a paediatric and transitional rheumatology unit of a Spanish tertiary care hospital.
Methods We performed a retrospective study including 39 patients with AD followed-up in our center.
Results The distribution of diagnoses was: soJIA 19 patients (48.72%), BD 5 (12.82%), PFAPA 6 (15.38%), CRMO 3 (7.69%), RFW 4 (10.26%), HIDS 1 (2.56%) and CINCA 1 (2.56%). Patients came from different regions of Spain, being 22 of them boys (56.41%) and 17 girls (43.59%). The genetic study was performed in 12 patients, being positive in 7 (17.95%). Mean age at onset of symptoms was 5±5.65 years in monogenic diseases, 7.96±4.84 years in polygenic disorders and 9.5±5.91 years RFW. Delay in diagnosis in monogenic diseases was higher than in polygenic diseases (67±69.29 months vs. 24.03±30.33 months, respectively). The clinical manifestations more frequently found were fever, followed by joint involvement, being more common in monogenic diseases than in polygenic disorders (table). Haemoglobin levels were lower in monogenic than in polygenic diseases 9.95 g/dL ± 0.63 vs. 11.69 g/dL ± 2, ESR and CRP was higher in monogenic diseases 106 mm/h ± 68.5 and 80.5 mg/L ± 84.14 vs. 56.1 mm/h ± 33.78 and 57.95 mg/L ± 57.95, unlike ferritin that was more elevated in polygenic disease 896 μg/dL ± 1788.34 than in monogenic diseases 183 μg/dL ± 195.7. During his follow up 84.62% of patients received corticosteroids, 51.8% methotrexate and 46.15% biological therapy.
Conclusions soJIAs was the most frequent AD in our center. All the patients had a similar gender distribution. Delay in diagnosis was greater in monogenic diseases compared with polygenic disorders. Fever and joint involvement were the more common clinical manifestations, especially in monogenic diseases. Ferritin levels were higher in polygenic diseases, whereas CRP and ESR which were higher in monogenic diseases. During the follow-up most patients required treatment with corticosteroids and approximately half of them required biological therapy.
Disclosure of Interest None declared