REVERSIBLE AND IRREVERSIBLE RADIOLOGICAL SIGNS OF BONE INVOLVEMENT IN TYPE I GAUCHER DISEASE

Background. Gaucher disease is an autosomal recessive lysosomal storage disorder caused by deficiency of the enzyme glucocerebrosidase, which is required for the degradation of glycosphingolipids. Skeletal involvement is one of the main manifestations of the disease and is present in 70–100 % of patients. However, the rarity of Gaucher disease and non-specific and heterogeneous nature of its symptoms and radiological signs may impede consideration of this disease in the differential diagnosis.

Aim. To describe the radiological signs of bone involvement in type I Gaucher disease and assess the role of MRI in the evaluation of the severity of the disease in newly diagnosed patients.

Materials and methods. X-ray and MRI data of 86 treatment-naïve Gaucher patients were included in the retrospective analysis. Bone marrow involvement, as well as bone and joint pathological changes, were evaluated.

Results. Radiological signs of bone involvement in Gaucher patients were described and classified into 2 groups, i.e. reversible and irreversible. Such a classification is important in terms of the assessment of the overall disease severity. MRI has proven to be a sensitive method for detection and evaluation of the reversible bone changes in Gaucher patients.

Conclusion. Although radiological manifestations of bone involvement in Gaucher patients are typical, they may significantly vary and be present in various combinations. MRI is the gold standard for the assessment of bone marrow changes in patients with Gaucher disease.

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