AB1316 PREVALENCE, DIAGNOSTIC DELAY AND TREATMENT PROFILE OF PATIENTS WITH MONOGENIC AUTOINFLAMMATORY DISEASES IN AN ADULT RHEUMATOLOGY SERVICE OF A TERTIARY HOSPITAL

• Published in: Annals of the rheumatic diseases Vol. 81; no. Suppl 1; p. 1765
• Main Authors: Pávez Perales, C., Molina Rus, E., Grau García, E., De la Rubia Navarro, M., Leal Rodriguez, S., Riesco Barcena, C., Huaylla Quispe, A. V., Muñoz Martinez, P., Mas Sanchez, L., Ivorra Cortés, J., Oller Rodríguez, J. E., Fragío Gil, J. J., González Mazarío, R., Cánovas Olmos, I., Martínez Cordellat, I., Vicens Bernabeu, E., Ortiz-Sanjuán, F., Negueroles Albuixech, R., Gonzalez Puig, L., Nájera Herranz, C., Román Ivorra, J. A.
• Format: Journal Article
• Language: English
• Published: 01.06.2022
• ISSN: 0003-4967; 1468-2060
• DOI: 10.1136/annrheumdis-2022-eular.4143

Background Monogenic autoinflammatory diseases (MAISs) have a low prevalence and a delay in their diagnosis, with the risk of complications being AA amyloidosis the most serious. Biological therapy has been a fundamental pillar in improving the prognosis of these diseases, reducing said risk. Objectives We aim to study the prevalence, diagnostic delay and treatment profile of MAISs patients in an adult rheumatology service of a tertiary hospital. Methods Observational and retrospective study of patients with MAISs, excluding those without genetic test or negative genetic test, with a follow-up period of 17 years (2005-2021). Demographic, clinical and therapeutic variables were collected. Results 24 patients (50% men) were included with a mean age of 27,88 ± 11.57y. The prevalence of MAISs was 0.34%, from a total of 7,032 patients followed up in the Rheumatology service during 2020. Familial Mediterranean Fever (FMF) was the most frequent (70.83%). FMF, Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS), and Hyperimmunoglobulin D Syndrome (HIDS) had a median age at symptom onset of 6, 8.5 and 2 years, a median diagnostic delay of 6, 8.75 and 11 years and a mean duration of the bouts of 4.47 (2.87), 12.25 (7.59) and 6 (2.65) days, respectively. The most frequent symptoms were: fever (79.17%), arthralgia/arthritis (79.17%) and abdominal pain (75%). During follow up 20.83% received glucocorticoids (GC) chronically (more than 3 months), 79.16% colchicine, 16.66% methotrexate and 41.66% biological therapies (Table 1). At the end of follow up 4.17% were receiving GC, 79.16% colchicine, 4.16% methotrexate and 33.33% biological therapies (Table 1). No AA amyloidosis or deaths were reported. Table 1. MAISs Gender (men % ) Biological therapies prescribed during follow up (n ) Patients under biological therapies at the end of follow up (n ) FMF (n=17 ) 41.17% Anakinra: 2 Anakinra: 3 Canakinumab: 2 Canakinumab: 2 Etanercept: 1 Tocilizumab: 1 TRAPS (n=4 ) 100% Anakinra: 1 Canakinumab: 1 Canakinumab: 1 Etanercept: Tocilizumab: HIDS (=3 ) 66.66% Anakinra: 3 Canakinumab: 2 Canakinumab: 3 Etanercept. 1 Conclusion MAISs prevalence was 0.34%. The diagnostic delay was of years, more than a decade for HIDS. Colchicine was widely used and well tolerated. Synthetic DMARDs had little role in treatment. Biological therapies were prescribed in a third of patients, anti IL-1 being the most used. Disclosure of Interests None declared