Autoimmune and Inflammatory Diseases in Children with Sickle Cell Disease: A French Multicenter Observational Study on Diagnostic and Therapeutic Issues

• Published in: Blood 2024-11, Vol.144 (Supplement 1), p.1117-1117
• Main Authors: Vinit, Caroline, Guitton, Corinne, de Montalembert, Mariane, Benhaim, Patricia, Amor-Chelihi, Lahoueri, Bader-Meunier, Brigitte, Missud, Florence, Melki, Isabelle, Gajdos, Vincent, Arnaud, Cecile, Kamden, Annie, Charara, Oussama, Hentgen, Véronique, Nathanson, Sylvie, Bloch, Coralie, Meinzer, Ulrich, Quartier, Pierre, Kone-Paut, Isabelle, De Pontual, Loïc, Pham, Luu-Ly
• Format: Article
• Language: English
• ISSN: 0006-4971; 1528-0020
• DOI: 10.1182/blood-2024-208048

Autoimmune and inflammatory diseases (AIIDs) encompass a spectrum of systemic or organ-specific conditions, wherein the immune system is compromised due to a loss of self-tolerance. AIIDs have been reported in both adults and children with sickle cell disease (SCD), but clinical data are still scarce, particularly in children. To identify clinical and paraclinical patterns at diagnosis of AIIDs in children with SCD and to describe their evolution, we performed an observational study among a cohort of 3,800 children with SCD, in a French multicenter study from 1991 to 2018. The inclusion criteria were i) children with SCD, ii) one or more concomitant AIIDs confirmed according to the diagnostic criteria published by the American College of Rheumatology and the European League Against Rheumatism, iii) AIID diagnosis before the age of 18 years-old. Children with isolated positive autoantibodies or autoimmune-like manifestations without a definitive diagnosis were excluded. Data from SCD children with AIIDs were retrospectively collected and included clinical characteristics, inflammatory markers (at diagnosis and after treatment), auto-antibodies patterns, evolution during follow-up (treatment, remission and occurrence of complications). Thirty-five children with SCD reported 44 AIIDs (0.9%, 95%CI [0.6-1.3]). Sex ratio was 0.84 and the median age was 10 [IQR 7-13] years-old at AIID diagnosis. The median length of follow-up was 13.5 [IQR 10-19] years. Thirty patients (86%, 95%CI [70-95]) had the S/S genotype, four (11%) the S/C genotype, and one (3%) the S/beta0 thalassemic genotype. AIIDs diagnosed were: auto-immune liver disease (AILD, n=13) including autoimmune hepatitis (AIH, n=8) and autoimmune sclerosing cholangitis (AISC, n=8), inflammatory bowel disease (IBD, n=7), juvenile idiopathic arthritis (JIA, n=6), systemic lupus erythematosus (SLE, n=5), autoimmune hemolytic anemia (AIHA, n=3), Sjögren syndrome (n=2), histiocytic necrotizing lymphadenitis (n=2), vasculitis (n=2), myasthenia gravis (MG, n=2), sarcoidosis (n=2), inflammatory uveitis (n=1), sclerodermia/juvenile dermatomyositis (JDM, n=1). Eight patients (23%, 95%CI[10-40]) had two or more concomitant AIIDs, including mixed connective tissue diseases (n=2, with SLE + Sjögren's syndrome, and scleroderma + JDM), SLE-associated MG (n=1), AISC with IBD (n=3), AISC with sarcoidosis (n=1), and concomitant AISC with AIH, IBD, and AIHA (n=1). The mean time between the first symptoms and AIID diagnosis was