AB0012 GENETIC EXPRESSION AND CLINICAL MANIFESTATIONS IN A COHORT OF PATIENTS WITH AUTOINFLAMMATORY SYNDROME
Authors: Lara Mendez, Clara Aguilera Cros, Ricardo Juan Gil Velez, Noemi Patricia Garrido Puñal, Isabel Madroñal García, Maria Dolores Arcila Duran, Alberto Ruiz Román, Marco Montes Cano
Journal: Annals of the Rheumatic Diseases (2019)

<h3>Background:</h3> The autoinflammatory syndromes (SAI) encompass a set of diseases in which there is an alteration of the innate immune response, contrary to what occurs in autoimmune diseases, in which the origin is due to pathological changes in the adaptive immune response. These diseases have common symptoms such as fever, skin, joint and lung involvement, among others, so they can be difficult to diagnose and classify. <h3>Objectives:</h3> -Describe the clinical and genetic characteristics of a cohort of patients with autoinflammatory syndromes (SAI). -To study the clinical manifestations of patients with SAI depending on the genetic alteration <h3>Methods:</h3> Retrospective descriptive study of patients seen in our Hospital (2008-2018), with a diagnosis of SAI. The data was obtained through the review of medical records. We have included data from patients who present a positive genetic study, both for described and pathogenic mutations, as well as nonpathogenic mutations, but which present a clinical picture according to this pathology. <h3>Results:</h3> We included 80 patients (52 men), mean age 41 ± 13 years. Fourteen patients (17.5%) presented family history. Summary of diagnoses (TABLE 1) and associated mutations by order of frequency (TABLE 2). The most frequent clinical manifestations: Arthralgias 77.5%, followed by high fever (&gt; 39) 73.8%, myalgias 72.5%, abdominal pain 56.3%, exanthema 47.5%, arthritis 35%, pericarditis 28.8%, headache 21.3%, pharyngitis 21.3% and canker sores 20%. The onset of the picture was a fever in 59 patients (73.8%) accompanied by cutaneous manifestations in 51.2% of the cases, with the rest of the symptoms being variable depending on the mutation studied. The most affected joints were: Metacarpophalangeal in 18 patients (22.8%), ankles in 15 patients (18.8%), proximal interphalangeal in 8patients (10%), hips in 2 patients (2.5%) and knees in 2 patients (2.5%). Elevated acute phase reactants were found in 53 patients (66.8%), with high sedimentation velocity in 56.3% and C reactive protein in 63.3%. The initial treatment was based on colchicine in 45% of the cases, needing to add corticosteroids in 25% of the patients. 10.1% required drugs modifying the disease, being the most frequent methotrexate (74.25%). Sixteen patients (20%) required biological therapy, being the most used anakinra (12.5%), followed by etanercept (2.5%) and canakinumab (2.5%). In the period of time analyzed, 3 patients died due to causes unrelated to the SIA. <h3>Conclusion:</h3> -The results obtained are consistent with what exists in the medical literature.The most frequent SAI in our center is the family Mediterranean fever, followed by the TRAPS.The most frequent mutation was the MEFV (P.R202Q), followed by the MEVF (p.E148Q). With our study we want to reflect the variety of symptoms presented by patients with SAI diagnosed in adulthood. Despite the great variability, the most frequent symptoms are arthralgia, fever greater than 39 °C and myalgias. The most used treatment in this type of patients is colchicine and respond to this positively in most cases. <h3>Disclosure of Interests:</h3> None declared