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.

Background: Displaced sub-capital fractures of the femur are traditionally treated by hip arthroplasty (hemi or total joint replacement). Total hip arthroplasty (THA) was formerly disfavored due to presumed higher peri-operative complications, higher costs and higher incidence of dis-location. Lately, this procedure regained acceptance as a suitable solution for active elderly patients. The use of monopolar hemi-arthroplasty implants (Austin-Moore’s, Thompson’s and others) is losing favor due to high rates of hip pain caused by gradual stem subsidence and metallic head protrusion. The bipolar hemi arthroplasty is thought to lower the rates of hip-pain due to its modular cemented or cementless stem and the bi-articular bearing-surface. Numerous patient-oriented scores have been suggested; evaluating the old-patient’s pre-fracture function while predicting his/her post-operative demands. Such score should optimize the use of hip implants: reducing operative risks while improving long term function. Since the beginning of 2005 we have used a modification of a score suggested by Rogmark et al. (JBJS-A, 84:2002). We have evaluated the pre-fracture activity of patients sustaining displaced sub-capital femur fractures. The score contains 4 items: Mobility (with/without a cane vs. walker support or more). Residence (at home vs. a nursing home), Mental Status (preserved vs. confused) and age (less or over 80 years). Each item is scored 5 or 2 points. We have used this score for the selection of appropriate surgical procedure: an Austin-Moore hemi-arthroplasty (less than 15 points), a bipolar cementless hemi-arthroplasty (15–17 points) or a Total Hip Arthro-plasty (20 points).

Objectives: To evaluate the application of score, and accuracy of implant selection. To evaluate outcome of those cases where an improved implant was chosen.

Methods: All patients who sustained displaced sub-capital femur fracture during the 2005 were evaluated. We collected data of pre-fracture mental status, mobility, residence and other demographic data and re-calculated each patient’s score. Factors evaluated were: correct fulfillment of the modified score (use of correct implant), peri-operative complications, radiographic results (immediate and after 3 months), post-rehabilitation function and mortality within one year of surgery.

Results: During the 2005 we managed surgically 60 patients with displaced sub-capital femur fractures. There were 39 females (65%) and 21 males. Mean age was 82 (range 67–96) years. Two independently functional patients had total hip arthroplasty (1 female, 1 male aged 67, 69 years, Rogmark score 20 in both). Eighteen patients underwent implantation of cementless bipolar hemi-arthroplasty (11 females, 7 males, mean age 78 years mean Rogmark score 18.3). Forty patients had hemi-arthroplasty with an Austin-Moore prosthesis (29 females, 11 males, mean age 84 years, mean Rogmark score 13.7). The application of Rogmark recommendations proved accurate in 17q18 patients with bipolar prosthesis (1 patient was found to be not-eligible for this prosthesis) but in the Austin Moore implants only 33 of 40 (82%) patients were accurately selected to receive this implant while the other 7 patients should have received the bipolar implant. Total incorrect use of the score guidelines was 13%. Detailed review of cases where an improved prosthesis was implanted (THA and bipolar prostheses, 20 patients), revealed no case of dislocation, 1 case of late peri-prosthetic fracture, one case of deep infection, and one death during 1 year of follow-up. All patients were able to walk with a cane at 3 months.

Discussion: Selection of surgical procedure for displaced sub-capital femur fracture is a compromise between an improved hip implant (necessitating longer operative time & higher peri-operative risks) or a hemi-arthroplasty (with shorter operation & presumed lower peri-operative risks). The current study demonstrates the use of a tool for hip implant selection. Operating surgeons were tended to underscore patient’s function thus selecting the simple Austin-Moore implants in some of the patients who would have benefited from an improved implant. The group of patients who received bipolar or THA implants showed low rates of dislocation, and acceptable rates of other complications. The aforementioned score could serve as a guiding tool for other treatment aspects such as surgical risk and rehabilitation period.

Conclusion: We hereby present our experience in the use of a mental-functional score for the selection of hip implant for displaced sub-capital femur fractures in elderly patients. This score enabled us to estimate postoperative demands of patients and select the correct operative procedure and implant. We believe this score is applicable and useful in the Israeli medical system. It will limit the use of simple hemi-arthroplasty to those patients whose ambulatory needs are limited, while enabling patients with higher needs to receive improved implants.

In 1882, as a French medical student, Philippe Charles Ernest Gaucher, described a 32 year old female with an enlarged spleen that he thought was an epithelioma.

Gaucher disease, the most prevalent lysosomal storage disorder, is a result of a genetic defect in the enzyme β-glucocerebrosidase (EC3.2.1.45), and the consequent accumulation of a glycolipid, glucocerebroside, in the cells of the monocyte-macrophage system, the “Gaucher cells”.

Of more than 200 mutations identified, most are private or rare mutations; those with some prevalence have been loosely categorized as a mild, severe, or lethal mutations on the basis of residual enzyme and clinical phenotype.

The most common presentation includes hepato-splenomegaly, anemia, and thrombocytopenia. Bone involvement is perhaps the most variable of all the findings attributed to Gaucher disease: ranging from asymptomatic disease, with or without radiological signs, to symptomatic disease, including avascular necrosis of bone adjacent to the large joints and pathological fractures (including compressed fractures of the spine). Episodic “crises” of bone pain in children and young adults, are common manifestations, which can be severe and engender considerable pain and disability.

One feature of Gaucher disease is the failure of correlation of bone with visceral or hematological disease. Symptomatic bone disease, may occur in any patient regardless of the extent of the visceral manifestations, and may be present or relatively absent in patients with severe splenomegaly or bone marrow depression.

With the advent of enzyme replacement therapy (ERT), which has proven to be safe and effective in improving the hematological parameters and reducing the organomegaly, it was hoped that the bone disease would be equally amenable to replacement therapy. But, the general experience has been that the skeletal response is considerably slower. However, it does seem that bone crises are much less frequent among ERT-treated patients. The greatest advantage of ERT to the skeleton is prevention before irreversible damage occurs, and that severe skeletal complications are usually prevented if ERT is begun at an early age in patients at risk. In addition, because of cost considerations, many national health budgets are unable to acquire ERT for affected patients and these individuals continue to suffer from the consequences of the natural history of their disease. Thus, the need for orthopaedic consultations and interventions are as critical today as in the era prior to global marketing of ERT.

This lecture outlines findings from the large referral clinic (> 500 patients) in the decade since the advent of specific enzyme replacement therapy. Although there have been some theories suggested to explain aspects of the pathological behavior of Gaucher bone, no one model is completely adequate: much is poorly understood. We face a relatively young and intelligent patient population whose expectations of quality of life are high and most patients do not want to be restricted in their daily activities. On the other hand, there arises the question whether conventional orthopaedic solutions, such as osteotomies, joint replacements or arthrodesis will be as successful as in patients with normal bones, this was the goal of our investigations.