Prevalence of autoantibodies in the course of Gaucher disease type 1: A multicenter study comparing Gaucher disease patients to healthy subjects

• Published in: Joint, bone, spine : revue du rhumatisme bone, spine : revue du rhumatisme, 2018-01, Vol.85 (1), p.71-77
• Main Authors: Serratrice, Christine, Bensalah, Nesma, Penaranda, Guillaume, Bardin, Nathalie, Belmatoug, Nadia, Masseau, Agathe, Rose, Christian, Lidove, Olivier, Camou, Fabrice, Maillot, François, Leguy, Vanessa, Magy-Bertrand, Nadine, Marie, Isabelle, Cherin, Patrick, Bengherbia, Monia, Carballo, Sebastian, Boucraut, José, Serratrice, Jacques, Berger, Marc, Verrot, Denis
• Format: Article
• Language: English
• Subjects: Adult; Aged; Antibodies; Antinuclear; Antiphospholipid; Auto immunity; Autoantibodies - immunology; Autoimmune Diseases - epidemiology; Autoimmune Diseases - immunology; Autoimmune Diseases - therapy; Autoimmunity; Enzyme Replacement Therapy; Europe - epidemiology; Female; Gaucher disease; Gaucher Disease - epidemiology; Gaucher Disease - immunology; Gaucher Disease - therapy; Hematology; Human health and pathology; Humans; Internal Medicine; Life Sciences; Male; Middle Aged; Prevalence; Rheumatology; Splenectomy
• ISSN: 1297-319X; 1778-7254
• DOI: 10.1016/j.jbspin.2016.12.002

Abstract Objectives Type 1 Gaucher disease may be related to the presence of autoantibodies. Their clinical significance is questioned. Primary endpoint was to compare the prevalence of autoantibodies in type 1 Gaucher disease patients with healthy subjects, seeking correlations with autoimmune characteristics. Secondary endpoints were to determine whether patients with autoantibodies reported autoimmunity-related symptoms and if genotype, splenectomy or treatment influenced autoantibodies presence. Methods Type 1 Gaucher disease patients and healthy volunteers were included in this national multicenter exploratory study. Autoantibodies presence was compared in both groups and assessed regarding to genotype, splenectomy, Gaucher disease treatment and autoimmunity-related symptoms. Results Twenty healthy subjects and 40 type 1 Gaucher disease patients were included. Of the studied group: 15 patients undergone splenectomy, 37 were treated either with enzyme replacement therapy (34) or with substrate reduction therapy (3), 25 were homozygous/heterozygous for the N370S mutation. In type 1 Gaucher disease group (studied group), 52% had positive autoantibodies versus 26% in control group. Antiphospholipid antibodies were more frequent in the studied group (30% vs. 5%), but without correlation to thrombosis, osteonecrosis or bone infarcts. In the studied group, antinuclear antibodies were more frequent (25% vs. 16%). None of the patients with autoantibodies had clinical manifestations of autoimmune diseases. Autoantibodies were not correlated with treatment, genotype, or splenectomy, except for anticardiolipid, more frequent in splenectomized patients. Conclusions In type 1 Gaucher disease, autoantibodies were more frequent compared to a healthy population. However, they were not associated with an increased prevalence of clinical active autoimmune diseases.