Skeletal involvement in Gaucher disease: extent of bone disease, splenic volume, and quality of life

Ricardo Andrade Fernandes De Mello,Ana Paula Alves Fonseca,Laís Bastos Pessanha,Melissa Bosi Nonato Mello

doi:10.1590/0100-3984.2020.0014

Ricardo Andrade Fernandes De Mello, Ana Paula Alves Fonseca + Show 2 more

Open Access

https://doi.org/10.1590/0100-3984.2020.0014

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Abstract

ObjectiveTo investigate the correlations among the extent of bone involvement, splenic volume, and quality of life in patients with Gaucher disease.Materials and MethodsThis was a descriptive, prospective cross-sectional study of 18 patients with Gaucher disease who underwent 3-T magnetic resonance imaging of both femurs and the lumbar spine. Semiquantitative analyses were performed on the basis of the bone marrow burden (BMB) score. We looked for linear relationships among the variables splenic volume, quality of life score, and BMB score.ResultsWe identified a linear relationship between the BMB scores and splenic volume. The quality of life score showed no statistically significant relationship with splenic volume or the BMB score.ConclusionThe linear relationship between the BMB score and the splenic volume indicates that the extent of bone disease is greater in individuals with splenomegaly. No correlation was found between the BMB and quality of life scores, illustrating the insidious and silent progression of Gaucher disease.

Highlights

Gaucher disease (GD) was the first reported lysosomal storage disease and is the most common type of lipidosis
We looked for linear relationships among the variables splenic volume, quality of life score, and bone marrow burden (BMB) score
We identified a linear relationship between the BMB scores and splenic volume

Summary

Introduction

Gaucher disease (GD) was the first reported lysosomal storage disease and is the most common type of lipidosis It is caused by hereditary deficiency of the lysosomal enzyme glucocerebrosidase (or beta-glucosidase), which hydrolyzes glucosylceramide (glucocerebroside) into glucose and ceramide[1,2]. There are different types of GD, and signs and symptoms of the disease vary widely, even within the same type It can be classified into two main groups: non-neuronopathic GD (type 1) and neuronopathic GD, in which the central nervous system is involved (types 2 and 3). The severity of bone involvement and the rate of progression vary considerably in GD, the disease is typically more aggressive in patients who present with symptoms during childhood[8,9]

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