Background: Familial Mediterranean fever (FMF) is the most frequent monogenic periodic fever syndrome and is characterized by recurrent episodes of fever, serositis, arthritis, dermal manifestations and long-term renal complications (amyloidosis is the most important complication). The genetic mutation of the disease is found in the MEFV gene located on the short arm of chromosome 16 and is inherited in an autosomal recessive manner. It affects the populations of the Mediterranean basin and is diagnosed according to the clinical evaluation. Objectives: To describe the clinical characteristics of a cohort of patients with FMF and to study the different genetic mutations located in the MEFV gene. Methods: Retrospective descriptive study of patients treated in our Hospital (2008)(2009)(2010)(2011)(2012)(2013)(2014)(2015)(2016)(2017)(2018), with FMF diagnosis and MEFV gene mutation. The data was obtained through the review of medical records. Results: We included 52 patients (29 men), mean age 41 years. The following mutations have been identified in alleles of the MEFV gene: Non-pathogenic in 34 patients (65%) (p 202Q 73%, p148Q 17%, p. 319K 6% and p339F 3%). Pathogenic in 18 patients (34%) (pr 202Q 22%, eg 148Q 27%, pr 653H 5%, pm 694V 16%, pi 159T 5%). In 17% of the patients family history was documented. Elevation of acute phase reactants in 41 patients (79%) (C Reactive Protein 75%, Globular sedimentation rate 65%). Echocardiography was performed in 14 patients, with diagnosis of pericardial effusion in 6 of them. Two patients develop renal amyloidosis, one of them (homozygous for the mutation 148Q) died due to this complication. 54% of patients use colchicine as initial treatment, achieving 50% good response with control of symptoms. 19% undergo treatment with glucocorticoids (0.5-1 mg/ kg/day), needing to add methotrexate in 1 patient and hydroxychloroquine in another. Four also use biological therapy (1 tocilizumab, 2 anakinra, 1 canakinumab) and 2 thalidomide to control skin manifestations. Conclusion:The genetic study confirms the diagnosis of FMF, allowing it to be differentiated from other SAIs. It also has prognostic value, depending on the mutation detected and if it affects one or both alleles. In our series, the most prevalent symptoms in patients with pathogenic mutations were fever, abdominal pain and arthromyalgia.

BackgroundSarcoidosis (S) is a systemic granulomatous disease of unknown etiology. The most frequent affectation is pulmonary, ocular and cutaneous, although sarcoidosis can damage other organs, such as the musculoskeletal system.ObjectivesTo describe the clinical characteristics and the radiological pattern, in a cohort with predominant pulmonary S, as well as to establish the relationship between the angiotensin converting enzyme (ACE) levels and the S course (chronification or remission).MethodsThis is a retrospective descriptive study of patients treated in our hospital, since 2008 to 2018, with diagnosis of S. The data was obtained through the review of medical records. The delay in the diagnosis of S was defined as the difference in months between the initial diagnostic suspicion and the final diagnosis of S.We use Chi-square tests to study the association between ACE levels and the course of the disease.ResultsFifty-five patients (31 women) were included, with a mean age of 52 ± 12 years. The first diagnosis was: 85% S, 10% lymphoma and 4% tuberculosis. The median of months for the definitive diagnosis of S was 5.5 months.Extrapulmonary clinical manifestations in table 1.The ACE is increased in 38 patients (70%). Simple x-ray and high resolution tomography of chest were done in all patients. Pulmonary stage 2 was the most frequent (51%), followed by stage 3 (16%), stage 0 (14%) and stage 4 (9%).In 90% of the patients, histological confirmation was obtained by transbronchial (47%), cutaneous (11%) or lymph node biopsy (29%).94% of the patients have been treated with oral glucocorticoids, 52% associate immunosuppressive therapy (Methotrexate 27% and Azathioprine 14%) or biological treatment (1 patient with Adalimumab and another with Infliximab). In 54% of the patients the S had a chronic course and in 43% S remitted.Increased levels of ACE were associated with clinical remission of the disease and normal levels with chronicity (p: 0.013). EXTRATHORACIC CLINICAL MANIFESTATIONS N(%) Skin15(27)Neurological4(7)Cardiac8(14)Renal2(4)Ocular7(13)Monoarthrittis3(5)Poliarthritis6(11)Bilateral swelling in ankles6(11)Hepatosplenomegaly8(14)ConclusionThe results of our study resembles, in general, what has been published in the literature. In our study, elevated ACE is associated with remission of the disease, contrary to the published, in which increased levels of ACE in symptomatic patients may reflect disease activity.Disclosure of Interests None declared

Background:Common variable immunodeficiency (CVID) is a primary immunodeficiency characterized by hypogammaglobulinemia and a deficient production of specific antibodies. Almost 30% of patients with CVID develop an autoinmmune and granulomatous disease, similar to clinical and histological sarcoidosis (S), it affects the lung fundamentally. This can lead to a misdiagnosis of S in a patient with CVID, this leads to inadequate treatment and increases the morbidity and mortality of the disease.Objectives:Describe the clinical and radiological characteristics of a cohort of patients diagnosed with S with predominant pulmonary involvent. Make a study of immunoglobulin (IG) levels to see the frequency of CVID in these patients.Methods:Retrospective descriptive study of patients treated in our Hospital (2008-2018), with diagnosis of S. The data was obtained by reviewing medical records. The delay in the diagnosis of S was defined as the difference in months between the initial diagnostic suspicion and the final diagnosis of S.In patients with low levels IG, we have done and expanded ID study.Results:55 patients (31 women) were included, with a mean age of 52 ±12 years. The initial diagnosis was: 85% S, 10% lymphoma and 4% tuberculosis. The median of months from the start of the clinic to the diagnosis of S was 5.5 months.Regarding the clinic, 21% patients present fever at the beginning of the disease, and 65% extrathoracic localization (cutaneous was the most frequent in 27%, and renal was the least frequent 5%). Simple x-ray and high resolution tomography of chest were done in all patients. Pulmonary stage 2 was the most frequent (51%), followed by stage 3 (16%), stage 0 (14%) and stage 4 (9%).In 90% of the patients, histological confirmation was obtained by transbronchial (47%), cutaneous (11%) or lymph node biopsy (29%).Igs were normal in 87% of patients, only 4 patients had low IG levels (Ig G in 3 patients and Ig M in 1). An extended ID study was performed in these 4 patients, being diagnosed with CVID 3 patients.Results of the 4 patients and the differential characteristics between CVID and S in table 1. Differential diagnosis CVID Sarcoidosis Patient 1 Patient 2 Patient 3 Patient 4 Recurrent infections ++++/-YesYesYesYes Autoimmunity ++++YesYesNoNo Splenomegaly ++++/-YesYesYesYes Hepatomegaly ++++/-YesYesYesYes Low levels IG ++++/-YesYesYesLow levels IgM Clinic PulmonaryPulmonaryPulmonaryPulmonary Radiological stage Stage 2Stage 2Stage 2Stage 2 Histological granuloma ++++++YesYesYesYes Increase of CD4/CD8 in BAL ++++Low levelsLow levelsLow levelsNot done Treatment CorticoidsCorticoidsCorticoidsCorticoidsConclusion:Although their clinical presentation and histological appearance may be identical, the management of these two conditions is very different. The difficulties in the differential diagnosis between S and CVID, shows the importance of a history of screening for recurrent infections and the measurement of IG levels before the diagnosis of possible S.Disclosure of Interests:None declared

Background:Psoriatic arthritis (PsA) is a chronic inflammatory disease mediated by the immune system, which affects the musculoskeletal system and the skin. It is a disease with increased expression of TNF-alpha and IL23/IL17 cytokines, which are therapeutic targets whose neutralization has a great impact on the control of the disease.Ixekizumab is a monoclonal antibody inhibitor of IL-17 indicated for the treatment of moderate-severe psoriasis and PsA. Ixekizumab is administered subcutaneously every 4 weeks, and according to the latest studies, it is a well-tolerated drug and an effective treatment option with significant improvement in the quality of life of patients with cutaneous psoriasis and PsA.Objectives:-Describe the clinical characteristics, tolerance, safety and survival of a cohort of patients diagnosed with psoriasis or PsA, who have started treatment with Ixekizumab.-Correlate skin involvement and joint with the quality of life of the patient through the life questionnaire (DLQI) in patients treated with Ixekizumab.Methods:An observational, cross-sectional and retrospective study was conducted on a cohort of 29 patients who started treatment with Ixekizumab in our hospital in the last year (2018). The data were obtained through the review of patients’ medical records and through telephone contact to carry out quality of life questionnaires (DLQI).Results:Twenty-nine patients were included, of which 22 were males (79.5%). The mean age of the patients was 47 years. Of the cases included, 22 of the patients presented cutaneous Psoriasis (75.8%), 6 of the patients with PsA (20.7%) and 1 patient presented with Dermatomyositis antiMDA 5 (3.5%). Of the 29 patients included, 24 (82.2%) did not present adverse effects. Of the 5 patients who presented adverse effects, in 100% of the cases they were mild. All patients had received prior therapy with disease modifying drugs (DMARDs), and 31% were naive to biological therapy. A total of 4 patients required concomitant therapy with corticosteroid treatment, 3 of them with PAs and 1 with dermatomyositis anti MDA 5. The average of the DLQI of the patients analyzed was 4 and an average PASI of 1 after the start of the treatment, obtaining an Overall improvement of the skin.A statistically significant Pearson correlation of 0.895 was found between DLQI and PASI (dependent variable), with a strong degree of association. In which patients with a lower score in the DLQI had a lower PASI.Regarding the pain produced by the autoinjector, measured according to the EVA scale, it was 2 (mild pain), and none would abandon the treatment for this reason. Of all the patients, 9.1% abandoned the treatment due to inefficiency.Conclusion:The treatment with Ixekizumab presents some promising results in the treatment of cutaneous psoriasis and PsA.Treatment with Ixekizumab presents a significant improvement in the quality of life of patients.Ixekizumab is a well-tolerated drug with good efficacy in the short-medium term. It has also been shown to be a safe drug among the patients inclu...

Background: Familial Mediterranean fever (FMF) is the most frequent monogenic periodic fever syndrome and is characterized by recurrent episodes of fever, serositis, arthritis, dermal manifestations and long-term renal complications (amyloidosis is the most important complication). The genetic mutation of the disease is found in the MEFV gene located on the short arm of chromosome 16 and is inherited in an autosomal recessive manner. It affects the populations of the Mediterranean basin and is diagnosed according to the clinical evaluation. Objectives: To describe the clinical characteristics of a cohort of patients with FMF and to study the different genetic mutations located in the MEFV gene. Methods: Retrospective descriptive study of patients treated in our Hospital (2008)(2009)(2010)(2011)(2012)(2013)(2014)(2015)(2016)(2017)(2018), with FMF diagnosis and MEFV gene mutation. The data was obtained through the review of medical records. Results: We included 52 patients (29 men), mean age 41 years. The following mutations have been identified in alleles of the MEFV gene: Non-pathogenic in 34 patients (65%) (p 202Q 73%, p148Q 17%, p. 319K 6% and p339F 3%). Pathogenic in 18 patients (34%) (pr 202Q 22%, eg 148Q 27%, pr 653H 5%, pm 694V 16%, pi 159T 5%). In 17% of the patients family history was documented. Elevation of acute phase reactants in 41 patients (79%) (C Reactive Protein 75%, Globular sedimentation rate 65%). Echocardiography was performed in 14 patients, with diagnosis of pericardial effusion in 6 of them. Two patients develop renal amyloidosis, one of them (homozygous for the mutation 148Q) died due to this complication. 54% of patients use colchicine as initial treatment, achieving 50% good response with control of symptoms. 19% undergo treatment with glucocorticoids (0.5-1 mg/ kg/day), needing to add methotrexate in 1 patient and hydroxychloroquine in another. Four also use biological therapy (1 tocilizumab, 2 anakinra, 1 canakinumab) and 2 thalidomide to control skin manifestations. Conclusion:The genetic study confirms the diagnosis of FMF, allowing it to be differentiated from other SAIs. It also has prognostic value, depending on the mutation detected and if it affects one or both alleles. In our series, the most prevalent symptoms in patients with pathogenic mutations were fever, abdominal pain and arthromyalgia.