UNIGE document Scientific Article
previous document  unige:145459  next document
add to browser collection
Title

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

Authors
Berrahal, Amina
Belmatoug, Nadia
Camou, Fabrice
Caillaud, Catherine
Billette de Villemeur, Thierry
Dalbies, Florence
show hidden authors show all authors [1 - 27]
Published in Journal of clinical medicine. 2020, vol. 9, no. 8, 2343
Abstract 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.
Keywords Gaucher diseaseLysosomal storage disorderDisease courseEnzyme replacement therapyRisk factorsPrognosis
Identifiers
PMID: 32708003
Full text
Article (Published version) (427 Kb) - public document Free access
Appendix (123 Kb) - public document Free access
Other version: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7464688/
Structures
Research group Démence du sujet âgé, troubles cognitifs, la symptomatologie cognitive (577)
Citation
(ISO format)
DE ROUX SERRATRICE, Christine et al. A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease. In: Journal of Clinical Medicine, 2020, vol. 9, n° 8, p. 2343. doi: 10.3390/jcm9082343 https://archive-ouverte.unige.ch/unige:145459

90 hits

35 downloads

Update

Deposited on : 2020-11-27

Export document
Format :
Citation style :