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Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry

1
Service de Médecine Interne, Centre de Référence des Maladies Lysosomales, AP-HP.Nord, Site Beaujon, Université de Paris, F-92110 Clichy, France
2
Centre de Recherche en Epidémiologie et Santé des Populations, INSERM U1018, Université Paris-Sud, F-94805 Villejuif, France
3
Service de Médecine Interne, Hôpitaux Universitaires de Genève, CH-1211 Geneva, Switzerland
4
Service de Médecine Interne, CHU Pontchaillou, F-35000 Rennes, France
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Direction de la Recherche et de l’Innovation, CHRU de Montpellier, F-34295 Montpellier, France
6
Service de Médecine Interne, CHU Toulouse, F-31300 Toulouse, France
7
Service de Neuropédiatrie, Hôpital Trousseau, Assistance Publique-Hôpitaux de Paris, F-75012 Paris, France
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Centre de Référence des Maladies Héréditaires du Métabolismes, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, IHU Institut Imagine, F-75015 Paris, France
9
Service de Réanimation Médicale, CHU Haut Levêque, F-33600 Pessac, France
10
Institut de Cancéro-Hématologie, CHRU Morvan, F-29200 Brest, France
11
Centre de Référence des Maladies Héréditaires du Métabolisme de L’enfant et de L’adulte, CHRU de Lille, F-5900 Lille, France
12
Service de Médecine Interne, Hôpital Joseph Ducuing, F-31300 Toulouse, France
13
Service de Médecine Interne et Immunologie Clinique, CHU Bocage Central, F-21000 Dijon, France
14
Service de Médecine Interne, CHU Hôtel Dieu, F-44000 Nantes, France
15
IRMB, Université de Montpellier, Inserm U1183, CHU Montpellier, F-34295 Montpellier, France
16
Service des Maladies Métaboliques, Hôpital Robert Debré, F-75019 Paris, France
17
Département de Médecine Interne de l’âgé, Hôpitaux Universitaires de Genève, CH-1226 Thonex, Switzerland
18
Service d’Hématologie Biologique et Service d’Hématologie Clinique Adulte, CHU Estaing, F-63000 Clermont-Ferrand, France
19
EA 7453 CHELTER, Université Clermont Auvergne, F-63000 Clermont-Ferrand, France
*
Author to whom correspondence should be addressed.
Membership of the French Evaluation of Gaucher Disease Treatment Committee is provided in the Acknowledgments.
Int. J. Mol. Sci. 2020, 21(4), 1247; https://doi.org/10.3390/ijms21041247
Received: 12 January 2020 / Revised: 3 February 2020 / Accepted: 11 February 2020 / Published: 13 February 2020
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. ≤30 years, HR 4.71, 95%CI [2.40–9.27]; 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. View Full-Text
Keywords: Gaucher disease; polyclonal gammopathy; monoclonal gammopathy; multiple myeloma; monoclonal gammopathy of unknown significance Gaucher disease; polyclonal gammopathy; monoclonal gammopathy; multiple myeloma; monoclonal gammopathy of unknown significance
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Nguyen, Y.; Stirnemann, J.; Lautredoux, F.; Cador, B.; Bengherbia, M.; Yousfi, K.; Hamroun, D.; Astudillo, L.; Billette de Villemeur, T.; Brassier, A.; Camou, F.; Dalbies, F.; Dobbelaere, D.; Gaches, F.; Leguy-Seguin, V.; Masseau, A.; Pers, Y.-M.; Pichard, S.; Serratrice, C.; Berger, M.G.; Fantin, B.; Belmatoug, N.; on behalf of the French Evaluation of Gaucher Disease Treatment Committee. Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry. Int. J. Mol. Sci. 2020, 21, 1247.

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