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.
Highlights
Gaucher disease (GD) is a rare lysosomal autosomal recessive disease caused by deficiency of the lysosomal enzyme acid beta-glucosidase or glucocerebrosidase [1], or in rare cases of its activator saposin C [2]
This multicentric French national study is an observational retrospective cohort study based on the cross-sectional analysis of data from the French Gaucher Disease Registry (FGDR) [3]
All patients signed a consent form to be included in the FGDR
Summary
Gaucher disease (GD) is a rare lysosomal autosomal recessive disease caused by deficiency of the lysosomal enzyme acid beta-glucosidase or glucocerebrosidase [1], or in rare cases of its activator saposin C [2]. In the French Gaucher Disease Registry (FGDR), prevalence is estimated at 1/140,000 [3]. GD shows significant morbidity and it is classified into three phenotypes. Type 1 Gaucher disease (GD1) is characterized by a combination of splenomegaly and/or hepatomegaly, cytopenia (thrombocytopenia, anemia, and more rarely leukopenia) of varying degrees, and/or bone disease (Erlenmeyer flask deformity, bone infiltration, osteoporosis, lytic lesions, pathologic and vertebral fractures, bone infarction, and avascular necrosis leading to degenerative arthropathy). Within each GD type, phenotypic heterogeneity is important and poorly understood [5]
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