[Bone changes in Gaucher disease].

Abstract

Among Ashkenazi-Jews, Gaucher' disease, an autosomal-recessive hereditary genetic defect of sphingolipid metabolism, occurs more frequently than in the general population. Because of lack of the specific b-glucosidase, glucocerebrosidase, there is increased deposition of glucocerebrosides in the reticulo-endothelial system, mostly in the spleen, liver, and bone-marrow. In the chronic adult form (type 1), in addition to the hematologic complications (which are mostly associated with a splenomegaly), a less known involvement of the skeletal system occurs, which can lead to significant rheumatologic and orthopedic problems. These are: nonspecific skeletal and joint pain, purulent osteomyelitis, pseudo-osteomyelitis, aseptic necrosis of the femoral head, pathologic fractures of the long bones, acutely occurring kyphosis secondary to pathologic vertebral fractures with or without spinal compression, bony deformities, growth disturbances, arthritis, and bursitis. One sees a wide variety of bone lesions which can be solitary or multiple. Various pathogenic mechanisms have been discussed: toxic reaction to the Gaucher cells, disturbance of the osteoblastic and osteoclastic function, compression of osseous blood vessels by pathological cells, pressure-induced atrophy of the surrounding osseous tissue, local hemorrhage, local thrombosis, invasion of the arterioles with subsequent occlusion, and bone infarcts. The therapy is purely symptomatic. For orthopedic problems there is a greater tendency towards conservative treatment. There is disagreement as to whether splenectomy, which is often performed for hematologic or mechanical reasons, accelerates involvement of the bone. The case of a patient with multiple fractures of the spine and a slight spinal compression is presented.