FRI0570 CLINICAL CHARACTERISTICS IN PATIENTS WITH PEDIATRIC SYSTEMIC LUPUS ERYTHEMATOSUSDIAGNOSED BEFORE 6 -YEARS OLD IN A THIRD-LEVEL HOSPITAL IN MEXICO. (June 2019)

• Record Type: Journal Article
• Authors: Ramirez, Alejandra; Sifuentes, Erika; Rivas-Larrauri, F.; Yamazaki-Nakashimada, M. A.
• Is Part Of: Annals of the rheumatic diseases. Volume 78(2019)Supplement 2
• Page Start: 980
• Page End: 981
• Publication Date: 2019-06
• Subjects: Rheumatism -- Periodicals; 616.723005
• DOI: 10.1136/annrheumdis-2019-eular.8237
• Languages: English
• ISSNs: 0003-4967

Abstract

Abstract : Background: Pediatric-onset Systemic Erythematosus Lupus (pSLE) is known to be more aggressive than adult-onset SLE. The disease is extremely rare under the age of 5 years and with severe course. Another big difference is the association of pSLE with monogenic primary immune deficiencies (PID). Some PIDs have been associated with SLE or lupus-like manifestations: deficiencies of the classical complement pathway, female carriers of X-linked chronic granulomatous disease, IgA deficiency (present in 5% of pSLE). It is important to consider PIDs in patients with severe manifestations in pSLE, in our country there are no studies of this association. Objectives: To describe the clinical manifestations, laboratory features, characteristics and therapeutics of patients with diagnosis of SLE before 6 years of age at National Institute of Pediatrics in Mexico City Methods: This is a retrospective study with the review of the patient's records with diagnosis of SLE before 6 years old, from the Immunology department between January 2005 and December 2016 at National Institute of Pediatrics in Mexico City. Results: Between 2005-2016 there were 295 newly patients diagnosed with pediatric Systemic Lupus Erythematosus (pSLE) at our hospital, from these patients 2.7% (8) were diagnosed with pSLE before 6 years of age. According to this, 7 (87.5%) were female. The youngest patient was 26 months at moment of diagnosis. Every patient had at least 4 criteria of the ACR classification for SLE. Only 2 (25%) had malar rash at diagnosis, and 1 (12.5%) presented discoid rash. Seventy-five percent of patients presented glomerulonephritis at diagnosis and also 75% had an Hematological disorder. In terms of serology, 37.5% had positive native DNA antibody, 37.5% antibody to Sm protein and 37.5% antiphospholipid antibodies. One hundred percent of patients had presence of antinuclear antibody (ANA) at moment of diagnosis. Conclusion: During 2005-2016 we found 295 newly patients with diagnosis of pediatric Systemic Erythematosus Lupus (pSLE), from these, eight patients (2.7%) were diagnosed before 6 years of age. Seventy-five percent presented recurrent infections and 50% with severe infections, and one patient died due to septic shock. Systemic erythematosus lupus with an early onset has a more severe phenotype and has been associated with monogenic primary immune deficiency, presenting with severe infections and higher mortality. In our country, we do not have genetic testing to help us determine the endless monogenic defects associated with early-onset SLE, being necessary to determine etiology and specific treatment as needed. We recommended that in every patient with severe pSLE who develops life-threatening, infections or due to unusual germs, associated with hypocomplementemia and/or consanguinity, to perform an approach to rule out any primary immune deficiency. References: [1] Levy, D. Kamphuis Systemic Lupus Erythematosus in Children and Adolescents. Pediatr Clin North Am. 2012April; 59(2): 345–364 [2] F.Rivas-Larrauri, M.A.Yamazaki-Nakashimada. Lupus eritematoso sistémico: ¿es una sola enfermedad?Reumatol Clin. 2016;12(5):274–281 [3] Carneiro M, Understanding Systemic Lupus Erythematosus Physiopathology in the Light of Primary Immunodeficiencies J Clin Immunol (2008) 28 (Suppl 1):S34–S41 [4] G. Tsokos, K. Sullivan, New insights into de immunopathogenesis of systemic lupus erythematosus. Nature Reviews (2016) 10.1038 Disclosure of Interests: None declared