MR imaging of patients with type 1 Gaucher's disease : relationship between bone and visceral changes

OBJECTIVE. Because treatment is now available for patients with Gaucher's disease, methods of follow-up have become important in making treatment decisions. Bone abnormalities (infarct and avascular necrosis) tend to be irreversible while visceral volumes are not, suggesting that it may be useful to follow patients with visceral volume determinations. In order to do so, the relationship of one to the other must first be understood. The purpose of this paper is to determine the relationships between bone and visceral changes identified with MR imaging. MATERIALS AND METHODS. Sixty-two consecutive patients from 1 to 78 years old with type 1 Gaucher's disease were studied by MR imaging. The examination consisted of two parts : T1-weighted MR images and gradient-echo coronal MR images of the hips and femurs, and axial breath-holding MR images of the abdomen that allowed measurement of hepatic and splenic volume. The bone changes were classified and were correlated with the liver and spleen volumes. Specific imaging features of the liver and spleen were noted and correlation sought. RESULTS. A statistically significant difference in liver size was found between patients with and without avascular necrosis. A statistically significant correlation was also found between liver size and avascular necrosis. Patients with marrow changes classified as grade 2 or higher were significantly more likely to have avascular necrosis. Nineteen percent of patients had splenic nodules and 7% had hepatic nodules ; however, there was no correlation between the nodules and bone changes. CONCLUSION. MR imaging showed a statistical relationship between marrow changes, liver size, and avascular necrosis in patients with type 1 Gaucher's disease. Knowledge of this relationship may be used in dosage and treatment considerations in the follow-up and clinical management of these patients.