Scintigraphic monitoring of reticuloendothelial system in patients with type 1 Gaucher disease on enzyme replacement therapy.

UNLABELLED: The purpose of this study was to define the scintigraphic pattern of marrow replacement and changes in reticuloendothelial activity after enzyme replacement therapy in patients with Gaucher disease.

METHODS

Forty patients underwent baseline whole-body imaging with 99mTc-sulfur colloid and evaluation of liver and spleen volume with CT or magnetic resonance imaging. Thirty-seven of the 40 patients were treated with enzyme replacement. Therapeutic responses of central and peripheral bone marrow and the changes in pulmonary uptake of 99mTc-sulfur colloid were assessed visually at 1-4 yr after the start of therapy. Changes in liver and spleen volumes were analyzed quantitatively. The initial pattern of marrow involvement was correlated with disease severity (based on baseline blood counts and liver and spleen volumes).

RESULTS

Baseline studies revealed that 38 of 40 (95%) and 28 of 40 (70%) of the patients in this study had abnormal peripheral and central marrow activity, respectively. Twenty of 24 evaluable patients (83.3%) on therapy showed regression of peripheral bone marrow activity to a more proximal location in the lower extremities, increased ratio of pelvic/proximal femoral activity to distal activity or both. Fourteen of 19 treated patients (73.7%) with abnormal initial central marrow activity showed detectable improvement in central bone marrow activity as a result of therapy. In patients with initial lung uptake of 99mTc-sulfur colloid, 91% showed complete resolution of the uptake after therapy. These changes in colloid uptake and distribution were associated with significant reductions in liver and spleen volumes and improvements in blood counts.

CONCLUSION

Most patients with Gaucher disease demonstrate increased central bone marrow activity and regression of activity in peripheral bone marrow with enzyme replacement therapy. Additionally, the abnormal phagocytic pulmonary activity observed before therapy in many of the patients resolves.