1. Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry
- Author
-
Yann Nguyen, Dries Dobbelaere, Jérôme Stirnemann, Monia Bengherbia, Fabrice Camou, Samia Pichard, Karima Yousfi, Christine Serratrice, Agathe Masseau, Vanessa Leguy-Seguin, Marc G. Berger, Nadia Belmatoug, Dalil Hamroun, Bruno Fantin, Florent Lautredoux, Francis Gaches, Leonardo Astudillo, Anaïs Brassier, Bérengère Cador, Florence Dalbies, Yves-Marie Pers, Thierry Billette de Villemeur, Université de Lille, Hôpital Jeanne de Flandres, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Hôpital Universitaire de Genève = University Hospitals of Geneva (HUG), CHU Pontchaillou [Rennes], Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), CHU Trousseau [APHP], Centre Référence des Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte [CHU Necker] (MaMEA Necker), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de réanimation médicale, CHU Bordeaux [Bordeaux]-Hôpital Saint-André, Hôpital Morvan - CHRU de Brest (CHU - BREST ), Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Jeanne de Flandres-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Hôpital Joseph Ducuing - Varsovie [Toulouse] (HJD), Service de médecine interne et immunologie clinique (SOC 1) [CHU de Dijon], Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de médecine interne [Nantes], Université de Nantes (UN)-Hôtel-Dieu-Centre hospitalier universitaire de Nantes (CHU Nantes), Département de Rhumatologie[Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Lapeyronie, Hôpital Robert Debré, Médecine Interne [Hôpital Saint-Joseph - Marseille], Aix Marseille Université (AMU)-Hôpital Saint-Joseph [Marseille], Role of intra-Clonal Heterogeneity and Leukemic environment in ThErapy Resistance of chronic leukemias (CHELTER), Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Dpt médecine interne [CHU Beaujon], Hôpital Beaujon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Universitaire de Genève, CHU Toulouse [Toulouse], Service de Neuropédiatrie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), and Hôpital Joseph Ducuing
- Subjects
Male ,Gaucher disease ,monoclonal gammopathy of unknown significance ,multiple myeloma ,monoclonal gammopathy ,polyclonal gammopathy ,genetic structures ,Paraproteinemias ,Gastroenterology ,Cohort Studies ,lcsh:Chemistry ,0302 clinical medicine ,Risk Factors ,Multiple myeloma ,Medicine ,lcsh:QH301-705.5 ,Spectroscopy ,ddc:616 ,Lymphoma, Non-Hodgkin ,Monoclonal gammopathy ,Gamma globulin ,[SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology ,General Medicine ,Middle Aged ,3. Good health ,Computer Science Applications ,030220 oncology & carcinogenesis ,Female ,Adult ,medicine.medical_specialty ,congenital, hereditary, and neonatal diseases and abnormalities ,Monoclonal gammopathy of unknown significance ,Immunoglobulins ,Article ,Catalysis ,Inorganic Chemistry ,03 medical and health sciences ,Disease registry ,Internal medicine ,Humans ,Clinical significance ,Physical and Theoretical Chemistry ,Risk factor ,Molecular Biology ,Proportional Hazards Models ,Retrospective Studies ,business.industry ,Proportional hazards model ,Organic Chemistry ,nutritional and metabolic diseases ,medicine.disease ,eye diseases ,Lymphoma ,nervous system diseases ,lcsh:Biology (General) ,lcsh:QD1-999 ,ddc:618.97 ,Polyclonal gammopathy ,gamma-Globulins ,business ,Glucocerebrosidase ,030215 immunology - Abstract
Gaucher disease (GD) is a rare lysosomal autosomal-recessive disorder due to deficiency of glucocerebrosidase, polyclonal gammopathy (PG) and/or monoclonal gammopathy (MG) can occur in this disease. We aimed to describe these immunoglobulin abnormalities in a large cohort of GD patients and to study the risk factors, clinical significance, and evolution. Data for patients enrolled in the French GD Registry were studied retrospectively. The risk factors of PG and/or MG developing and their association with clinical bone events and severe thrombocytopenia, two markers of GD severity, were assessed with multivariable Cox models and the effect of GD treatment on gammaglobulin levels with linear/logarithmic mixed models. Regression of MG and the occurrence of hematological malignancies were described. The 278 patients included (132 males, 47.5%) were followed up during a mean (SD) of 19 (14) years after GD diagnosis. PG occurred in 112/235 (47.7%) patients at GD diagnosis or during follow-up and MG in 59/187 (31.6%). Multivariable analysis retained age at GD diagnosis as the only independent risk factor for MG (>, 30 vs. &le, 30 years, HR 4.71, 95%CI [2.40&ndash, 9.27], p <, 0.001). Risk of bone events or severe thrombocytopenia was not significantly associated with PG or MG. During follow-up, non-Hodgkin lymphoma developed in five patients and multiple myeloma in one. MG was observed in almost one third of patients with GD. Immunoglobulin abnormalities were not associated with the disease severity. However, prolonged surveillance of patients with GD is needed because hematologic malignancies may occur.
- Published
- 2020
- Full Text
- View/download PDF