Background: Osteonecrosis is the most severe outcome of bone involvement that is encountered in patients who have Gaucher diseae. This event may progress to articular surface collapse and eventually result in osteoarthrosis in a relatively young population. Core decompression or smaller diameter drilling of femoral/humeral/tibial lesions has been described in other diseases as well as in idiopathic osteonecrosis. The rationale to undertake such interventions (in the pre-collapse stage of osteonecrosis) is to remove necrotic bone and induce new bone formation in the lesion. This procedure has never been studied in Gaucher disease. We herein report the outcome in patients with Gaucher disease who under-went drilling of pre-collapse osteonecrotic lesions in the femur, humerus, and tibia.

Patients and Methods: Among 612 patients (adults and children) with Gaucher disease who are currently being treated in our tertiary referral clinic, 13 patients who complained of pain in the hip, shoulder, or knee and were concomitantly diagnosed as having osteonecrosis adjacent to an articular surface, received the recommendation to undergo the stop-gap measure of drilling (small diameter) into the necrotic lesion.

Results: There were 2 females and 7 males (69%) who elected to undergo the procedure; mean age at onset was 32 (13–47) years. Four other patients (2 males and 2 females, aged 15–69 years) refused this procedure despite the diagnosis of acute osteonecrosis. Small diameter drilling was performed at 10 different sites (5 femoral heads, 4 humeral heads, and one proximal tibia). In all cases drilling was performed at a pre-collapse stage (ACRO stage 1–2). Spinal anesthesia was used for the lower limbs and general anesthesia for humeral head drilling; fluoroscopic guidance with a 3.5–4mm drill was employed in all cases. Surgical procedures were generally uneventful and all patients were allowed supportedweight- bearing (or free-arm motion) directly afterwards. In no case was there any sign of infection, nor bleeding or fracture. In 6 of the 9 cases rapid progression (< 12 months) of the lesion and articular surface was noted.

Discussion: This is a seminal report of our experience in drilling juxta-articular osteonecrotic lesions in Gaucher disease. Heretofore drilling was not employed in Gaucher disease while other surgical interventions in the era prior to the advent of enzyme replacement therapy were associated with high incidence of complications. Thus, the very low rate of complications encountered with drilling is encouraging. Nevertheless, articular collapse was not prevented in 7/10 of the interventions.

Possibly better results could have been achieved if the procedure had been performed at an earlier stage. Since patients with Gaucher disease commonly complain of “bone pain”, it is our responsibility to ascertain that these lesions are not a juxta-articular infarct. If such event is evident on MR imaging, core-decompression or drilling may serve as a safe interventional option, in an effort to prevent articular collapse.

Conclusions: Small diameter drilling of juxta-articular osteonecrosis is a safe procedure with a low complication rate that may prevent or delay the progression of joint destruction. Newer imaging modalities and heightened awareness might enable earlier diagnosis with consequently earlier more efficacious intervention.