Ressonância magnética na avaliação do acometimento ósseo na doença de Gaucher tipo 1

Abstract

Gaucher disease (GD) was the first reported lysosomal storage disease and is the most common lipidosis diagnosed worldwide. It is caused by an inherited deficiency of the lysosomal enzyme glucocerebrosidase, that leads to the accumulation of glycolipid mainly in liver, spleen and bone marrow. In the latter, it can lead to osteopenia, lytic lesions, pathologic fractures, chronic bone pain, bone crisis and bone infarcts, that on long-term tend to reflect in quality of life of affected patients. A descriptive and cross sectional study was conducted to assess bone changes by magnetic resonance imaging of patients with type I GD, using the method Bone Marrow Burden (BMB), relating it with the spleen volume and the quality of life. The study population comprised 18 patients, 8 male and 10 female, and the average age was 38.2 years (17-70 years). There were bone complications in 9 patients: bilateral bone infarction (6 patients), avascular necrosis of the femoral head (2 patients) and avascular necrosis of the femoral head associated with unilateral bone infarction (1 patient). There were a significant relationship between all BMBs scores (femur, lumbar spine and total) with spleen volume. However, none of the presented BMBs had significant relation with quality of life score. Quality of life score did not show a linear relationship with spleen volume. BMB score proved to be a good method to estimate bone disease and demonstrated a linear relationship with the spleen volume. Quality of life was related neither to the BMB nor with spleen volume, probably related to the progressive and indolent nature of GD, which determines silent and irreversible changes during the curse of the disease.