Abstract

Introduction

Case presentation

Discussion
& Conclusion

References

Discussion
Board

Management of a Fracture in a Known Case of Gorham's Vanishing Bone Disease

Contact Person: Myles Clough (cloughs@wkpowerlink.com)

Discussion & Conclusion

Literature Review

Although the condition is rare it is so interesting that a high proportion of cases get written up. There is a surprisingly large number of case reports (see Bibliography) although many are difficult to access. There are however a number of papers in well recognised orthopaedic and general medical journals ^{10 12 26 29 39 41 45 76 77 98 112 129 141 173 195 197}. This is the first Internet site dealing with Gorham's Disease and related phenomena in any detail ^{83 88 119 169 198}.  The criteria for what is and is not Gorham's Disease are not well worked out and there are clearly several conditions classified under the Medical Subject Heading (MeSH) term "essential osteolysis". The most easily separable group is that of multicentric osteolysis ^{34 101 111 129 153} of which the great majority primarily affect the hands and feet,^{17 19 20 21 22 32 35 40 42 45 47 54 55 65 67 76 80 95 101 111 123 126 132 133 149 160 176}   so-called acro-osteolysis. A subset has been described which is clearly inherited ^{15 21 22 38 44 68 87 128 138} and two syndromes ^{83 88} are recognised. Yet another group of multicentric osteolysis patients has an associated nephropathy ^{1 12 25 38 56 78 83 125 167 170}.  Gorham's Disease presents in the cranio-facial region as well with papers in the neurosurgical, ENT, plastics, orofacial and dental literature ^{23 30 33 36 42 43 46 48 52 53 57 66 71 73 81 85 86 89 93 97 107 109 117 118 130 164 168 177 185}. A particularly dangerous form of the disease affects the thorax with pleural effusion ^{9 37 91 94 106 143 145 146 150 162 175 179 180 186 192} most often caused by chylothorax a complication formerly with a 30% mortality. Choma et al ⁹⁸ undertook a meta-analysis of 98 cases in 1987. Hardegger et al (1985) ⁷⁷ and Bisagni-Faure et al (1991) ¹²² have suggested classifications of this condition. The largest series for an institution is 11 cases from the Mayo Clinic ¹⁴¹

Review of the current case

The expected course of events after a fracture in a bone affected by Gorhams Disease is failure of healing followed by progressive reabsorption of bone around the fracture site. This has not happened in our case after the second fracture. Before concluding that our treatment averted this course of events we have to satisfy the following concerns:-

1. Does the patient have Gorham's Disease?
2. Is the affected bone involved in the disease?
3. Has the fracture really healed?
4. What is the natural history of fracture in affected bone? does it always fail to heal?

There is very little doubt that this patient does have Gorham's Disease. The diagnosis is usually made on the basis of the characteristic history of osteolysis and failure of bone healing in conjunction with the histological findings of marrow fibrosis and increased vascularity (biopsy of ulna 1995). The initial incident fulfils all the criteria for making the diagnosis. There is less certainty about whether the new fracture was through bone affected by the disease. The ulna distal to the (olecranon) fracture site certainly was affected as proved by the 1995 biopsies. Involvement of the whole bone was suggested by the difficulty experienced in getting the vascularized fibular graft to heal to the ulna without radiation treatment, and by the osteoporotic appearance of the olecranon in 1995. Since 1998 bone has reabsorbed around the screws in the ulna (though not in the fibular graft). That suggests that the vanishing bone disease is still active in the ulna. The biopsy taken at the time of the 1998 fracture is not especially striking and would not, by itself, be considered diagnostic of Gorham's Disease. It could be considered an artefact of the previous surgery or of prolonged disuse. It was, however, definitely abnormal and the penalties for ignoring the possibility that the bone was affected and might fail to heal, were very profound. Discussions with the patient covering the issue of failure of treatment headlined the possibility of amputation above the elbow if a persitent non-union into the elbow joint developed. Failure of healing of the olecranon would lead to a situation in which the elbow is flail or contracted into flexion and chronically dislocated. We would defend our use of adjunctive treatment on clinical grounds; however stating that the olecranon was affected by Gorham's Disease is not unassailable on scientific grounds. Since the only acceptable criterion would be disappearance of the bone, we could only prove that the treatment was scientifically valid if it had failed.⁹⁹

Healing of the fracture is certainly strongly suggested both clinically and radiologically. At an equivalent period of time after the original distal radius fracture the process of osteolysis was very evident. If the fracture was ununited one would normally expect fatigue failure of the internal fixation by now.

If the condition is rare, reports of repeat fractures are extremely rare. As a result most of the literature and case reports about the condition detail the events following failure of healing. If a fracture occured in a bone affected by Gorham's Disease yet went on to heal, we would very likely never hear about it. Even the simple question of whether all bones in an individual affected by Gorham's Disease are involved is not answered in the literature. Only one report ¹²²  describes diffuse haemangiomatosis in specific connection wth Gorham's Disease. When one considers how often bone graft from remote sites is harvested in these individuals this is a puzzling lack of knowledge. In this case the fibular bone graft is not undergoing reabsorption of bone around the screws while the adjacent native ulna does show this phenomenon. This suggests that the fibula is not involved, a contention even more strongly suggested by the fact that the fibula healed the fusion and didn't undergo osteolysis. We recommend that all patients who are known to have Gorham's disease and who subsequently undergo autologous bone grafting from a remote site should have a sample of the donor bone examined histologically. We would also welcome a registry of these patients and reporting of repeat fractures and their outcomes to this registry. Bone densitometry studies of remote bones in these patients would also be of great interest. We suggest that the treatment of the second fracture in these patients will be of enormous interest to the medical community as successful treatment is much more likely and the parameters that affect success should be easier to delineate.

A recent report of the treatment of Gorham's Disease by Interferon ¹⁹² is very interesting. This agent is thought to have specific inhibiting effects on haemangiomata. Since the pathological process that causes osteolysis in Gorham's Disease is more similar to neovascularization we suggest another agent. When the new antineovascularization medications ^{189 193 199} being tested for cancer therapy have been found to be safe ²⁰⁰ we suggest they be tried in Gorham's Disease.

We are attempting in this case report to demonstrate that something didn't happen; always a difficult issue to prove scientifically. Whether the evidence we present is sufficiently convincing will be left to the review of our peers and this topic should make for interesting discussion.

Conclusion

A case of fractured olecranon was presented in a patient whose ipsilateral ulna is known to be affected by Gorham's (Vanishing Bone) Disease. Bone biopsy from the fracture site suggested the bone was abnormal. Following internal fixation, electrical stimulation, pamidronate infusion and radiotherapy the fracture healed with a somewhat slower time course than normal bone. We conclude that aggressive adjunctive therapy is indicated on clinical grounds because of the penalties of allowing the disease to get a start.

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