Christine Serratrice1, Nesma Bensalah2, Guillaume Penaranda3, Nathalie Bardin2, Nadia Belmatoug4, Agathe Masseau5, Christian Rose6, Olivier Lidove7, Fabrice Camou8, François Maillot9, Vanessa Leguy10, Nadine Magy-Bertrand11, Isabelle Marie12, Patrick Cherin13, Monia Bengherbia4, Sebastian Carballo14, José Boucraut2, Jacques Serratrice14, Marc Berger15, Denis Verrot16. 1. Internal Medicine Department, Hôpital Saint Joseph, 26, bd de Louvain, 13008 Marseille, France; Internal Medicine Department, University Hospital of Geneva, Rue Gabrielle-Perret-Gentil 4, 1205 Geneva, Switzerland. Electronic address: cserratrice@hotmail.fr. 2. Immunology Laboratory, University Hôpital La Conception, 147, boulevard Baille, 13005 Marseille, France. 3. Alphabio Laboratory, Hôpital Européen, 6, Rue Désirée Clary, 13003 Marseille, France. 4. Internal Medicine Department, Hôpital Beaujon, 100, Boulevard du Général Leclerc, 92110 Clichy, France. 5. Internal Medicine Department, CHU, 44093 Nantes cedex 1, France. 6. Internal Medicine Department, Catholic University, 60, Boulevard Vauban, 59800 Lille, France. 7. Internal Medicine and Rheumatology Department, Hôpital La Croix Saint Simon, 75020 Paris, France. 8. Intensive Care Department, Hôpital Pellegrin, Place Amélie Raba Léon, 33076 Bordeaux, France. 9. CHRU, Université François Rabelais, INSERM 1069, 10, boulevard Tonnellé, 37032 Tours Cedex, France. 10. Internal Medicine and Clinical Immunology Department, CHU, 4, rue Paul Gaffarel, BP 77908, 21079 Dijon, France. 11. Internal Medicine Department, Hôpital Minjoz, 3, Boulevard A. Fleming, 25000 Besançon, France. 12. Internal Medicine Department, CHU, 1, rue de Germont, 76031 Rouen, France. 13. Internal Medicine Department, CHU la Pitié Salpêtrière, 47-83, Boulevard de l'Hôpital, 75013 Paris, France. 14. Internal Medicine Department, University Hospital of Geneva, Rue Gabrielle-Perret-Gentil 4, 1205 Geneva, Switzerland. 15. Hematology Biology, CHU Estaing, 1, Rue Lucie Aubrac, 63100 Clermont Ferrand, France. 16. Internal Medicine Department, Hôpital Saint Joseph, 26, bd de Louvain, 13008 Marseille, France.
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.
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 diseasepatients 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 diseasepatients 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 diseasepatients 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.