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

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.

Economic burden and health related quality of life of ultra-rare Gaucher disease in China

“…A Gaucher outcome survey involved 1209 patients with GD reported the overall treatment (1209, 73.4%) and different treatment rates in countries [the UK (119, 93.3%), Israel (536, 63.6%), the US (380, 82.6%), rest of the world (174, 69.5%)] [ 45 ]. In this study, 8 of the 49 patients (16.3%) were never treated, while 83.7% get treated, and 10 (20.4%) of patients undergone splenectomy, which was higher than previous research (8.7–13.3%) [ 2 , 45 ]. Besides, other studies have also shown a significant proportion of patients (e.g., asymptomatic or mildly affected) never accessed medical attention or required treatment [ 46 , 47 ].…”

“…Meanwhile, the more objective support caregivers received, the higher the health-related quality of life of GD caregivers. Due to the nervous system involvement of type 2 GD [ 2 ], it is challenging to take care of patients with type 2 Gaucher 's disease. Health decision-makers and clinicians should take action to recover the life function of type 2 GD patients and give nursing suggestions to the caregivers of patients with Gaucher 's disease.…”

“…Gaucher disease (GD), an ultra-rare multi-organ involvement, inherited recessive enzyme deficiency [ 1 , 2 ], is slowly progressing. Its standardized incidence and prevalence among the general population worldwide vary from 0.30 to 5.80 per 100,000 population, respectively; however, the initial estimate was 0.25 to 1.24 per 100,000 population [ 3 , 4 ] with hundreds of patients diagnosed with GD in China.…”

Analysis of the Situation of Unmet Health Care Need Among Extremely Rare Disease of Gaucher

“…[40]. In this study, 8 of the 49 patients (16.3%) were never treated, while 83.7% get treated, and 10 (20.4%) of patients undergone splenectomy, which was higher than previous research (8.7%-13.3%) [2,40].…”

“…Gaucher disease (GD), an ultra-rare multi-organ involvement, inherited recessive enzyme de ciency [1,2], is slowly progressing. Its standardized incidence and prevalence among the general population worldwide vary from 0.30 to 5.80 per 100,000 population, respectively; however, the initial estimate was 0.25 to 1.24 per 100,000 population [3,4] with hundreds of patients diagnosed with GD in China.…”