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A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease

Patients with type 1 Gaucher disease (GD1) present thrombocytopenia, anemia, organomegaly, and bone complications. Most experts consider that the less aggressive forms do not require specific treatment. However, little is known about the disease course of these forms. The objective of this cross-sec...

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Autores principales: Serratrice, Christine, Stirnemann, Jérôme, Berrahal, Amina, Belmatoug, Nadia, Camou, Fabrice, Caillaud, Catherine, Billette de Villemeur, Thierry, Dalbies, Florence, Cador, Bérengère, Froissart, Roseline, Masseau, Agathe, Brassier, Anaïs, Hivert, Bénédicte, Swiader, Laure, Bertchansky, Ivan, de Moreuil, Claire, Chabrol, Brigitte, Durieu, Isabelle, Leguy Seguin, Vanessa, Astudillo, Leonardo, Humbert, Sébastien, Pichard, Samia, Marcel, Catherine, Hau Rainsard, Isabelle, Bengherbia, Monia, Yousfi, Karima, Berger, Marc G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7464688/
https://www.ncbi.nlm.nih.gov/pubmed/32708003
http://dx.doi.org/10.3390/jcm9082343
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author Serratrice, Christine
Stirnemann, Jérôme
Berrahal, Amina
Belmatoug, Nadia
Camou, Fabrice
Caillaud, Catherine
Billette de Villemeur, Thierry
Dalbies, Florence
Cador, Bérengère
Froissart, Roseline
Masseau, Agathe
Brassier, Anaïs
Hivert, Bénédicte
Swiader, Laure
Bertchansky, Ivan
de Moreuil, Claire
Chabrol, Brigitte
Durieu, Isabelle
Leguy Seguin, Vanessa
Astudillo, Leonardo
Humbert, Sébastien
Pichard, Samia
Marcel, Catherine
Hau Rainsard, Isabelle
Bengherbia, Monia
Yousfi, Karima
Berger, Marc G.
author_facet Serratrice, Christine
Stirnemann, Jérôme
Berrahal, Amina
Belmatoug, Nadia
Camou, Fabrice
Caillaud, Catherine
Billette de Villemeur, Thierry
Dalbies, Florence
Cador, Bérengère
Froissart, Roseline
Masseau, Agathe
Brassier, Anaïs
Hivert, Bénédicte
Swiader, Laure
Bertchansky, Ivan
de Moreuil, Claire
Chabrol, Brigitte
Durieu, Isabelle
Leguy Seguin, Vanessa
Astudillo, Leonardo
Humbert, Sébastien
Pichard, Samia
Marcel, Catherine
Hau Rainsard, Isabelle
Bengherbia, Monia
Yousfi, Karima
Berger, Marc G.
author_sort Serratrice, Christine
collection PubMed
description Patients with type 1 Gaucher disease (GD1) present thrombocytopenia, anemia, organomegaly, and bone complications. Most experts consider that the less aggressive forms do not require specific treatment. However, little is known about the disease course of these forms. The objective of this cross-sectional retrospective study was to compare the clinical, radiological, and laboratory characteristics of patients with less severe GD1 at diagnosis and at the last evaluation to identify features that might lead to potential complications. Non-splenectomized and never-treated patients (19 women and 17 men) were identified in the French Gaucher Disease Registry (FGDR). Their median age was 36.6 years (2.4–75.1), and their median follow-up was 7.8 years (0.4–32.4). Moreover, 38.7% were heterozygous for the GBA1 N370S variant, and 22.6% for the GBA1 L444P variant. From diagnosis to the last evaluation, GD1 did not worsen in 75% of these patients. Some parameters improved (fatigue and hemoglobin concentration), whereas platelet count and chitotriosidase level remained stable. In one patient (2.7%), Lewy body dementia was diagnosed at 46 years of age. Bone lesion onset was late and usually a single event in most patients. This analysis highlights the genotypic heterogeneity of this subgroup, in which disease could remain stable and even improve spontaneously. It also draws attention to the possible risk of Lewy body disease and late onset of bone complications, even if isolated, to be confirmed in larger series and with longer follow-up.
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spelling pubmed-74646882020-09-04 A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease Serratrice, Christine Stirnemann, Jérôme Berrahal, Amina Belmatoug, Nadia Camou, Fabrice Caillaud, Catherine Billette de Villemeur, Thierry Dalbies, Florence Cador, Bérengère Froissart, Roseline Masseau, Agathe Brassier, Anaïs Hivert, Bénédicte Swiader, Laure Bertchansky, Ivan de Moreuil, Claire Chabrol, Brigitte Durieu, Isabelle Leguy Seguin, Vanessa Astudillo, Leonardo Humbert, Sébastien Pichard, Samia Marcel, Catherine Hau Rainsard, Isabelle Bengherbia, Monia Yousfi, Karima Berger, Marc G. J Clin Med Article Patients with type 1 Gaucher disease (GD1) present thrombocytopenia, anemia, organomegaly, and bone complications. Most experts consider that the less aggressive forms do not require specific treatment. However, little is known about the disease course of these forms. The objective of this cross-sectional retrospective study was to compare the clinical, radiological, and laboratory characteristics of patients with less severe GD1 at diagnosis and at the last evaluation to identify features that might lead to potential complications. Non-splenectomized and never-treated patients (19 women and 17 men) were identified in the French Gaucher Disease Registry (FGDR). Their median age was 36.6 years (2.4–75.1), and their median follow-up was 7.8 years (0.4–32.4). Moreover, 38.7% were heterozygous for the GBA1 N370S variant, and 22.6% for the GBA1 L444P variant. From diagnosis to the last evaluation, GD1 did not worsen in 75% of these patients. Some parameters improved (fatigue and hemoglobin concentration), whereas platelet count and chitotriosidase level remained stable. In one patient (2.7%), Lewy body dementia was diagnosed at 46 years of age. Bone lesion onset was late and usually a single event in most patients. This analysis highlights the genotypic heterogeneity of this subgroup, in which disease could remain stable and even improve spontaneously. It also draws attention to the possible risk of Lewy body disease and late onset of bone complications, even if isolated, to be confirmed in larger series and with longer follow-up. MDPI 2020-07-22 /pmc/articles/PMC7464688/ /pubmed/32708003 http://dx.doi.org/10.3390/jcm9082343 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Serratrice, Christine
Stirnemann, Jérôme
Berrahal, Amina
Belmatoug, Nadia
Camou, Fabrice
Caillaud, Catherine
Billette de Villemeur, Thierry
Dalbies, Florence
Cador, Bérengère
Froissart, Roseline
Masseau, Agathe
Brassier, Anaïs
Hivert, Bénédicte
Swiader, Laure
Bertchansky, Ivan
de Moreuil, Claire
Chabrol, Brigitte
Durieu, Isabelle
Leguy Seguin, Vanessa
Astudillo, Leonardo
Humbert, Sébastien
Pichard, Samia
Marcel, Catherine
Hau Rainsard, Isabelle
Bengherbia, Monia
Yousfi, Karima
Berger, Marc G.
A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease
title A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease
title_full A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease
title_fullStr A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease
title_full_unstemmed A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease
title_short A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease
title_sort cross-sectional retrospective study of non-splenectomized and never-treated patients with type 1 gaucher disease
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7464688/
https://www.ncbi.nlm.nih.gov/pubmed/32708003
http://dx.doi.org/10.3390/jcm9082343
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