Abstract

Gorham’s disease is a rare disorder characterized by proliferation of vascular channels that results in destruction and resorption of osseous matrix. Since the initial description of the disease by Gorham and colleagues (1954) and by Gorham and Stout (1955), fifty years have elapsed but still the precise etiology of Gorham’s disease remains poorly understood and largely unknown. There is no evidence of a malignant, neuropathic, or infectious component involved in the causation of this disorder. The mechanism of bone resorption is unclear.

The clinical presentation of Gorham’s disease is variable and depends on the site of involvement. It often takes many months or years before the offending lesion is correctly diagnosed. A high index of clinical suspicion is needed to arrive at an early, accurate diagnosis. Patients with Gorham’s disease may complain of dull aching pain or insidious onset of progressive weakness. In some cases, pathologic fracture often leads to its discovery. Gorham’s disease is progressive in most patients; however, in some cases, the disease process is self-limiting. The clinical course is generally protracted but rarely fatal, with eventual stabilization of the affected bone being the most common sequelae. Chylous pericardial and pleural effusions may occur due to mediastinal extension of the disease process from the involved vertebra, scapula, rib or sternum, and can be life threatening. A high morbidity and mortality is seen in patients with spinal and/or visceral involvement.

The medical treatment for Gorham’s disease includes radiation therapy, anti-osteoclastic medications (bisphosphonates), and alpha-2b interferon. Surgical treatment options include resection of the lesion and reconstruction using bone grafts and/or prostheses. In most cases, bone grafts tend to undergo resorption and are not helpful. Surgical reconstruction and/or radiation therapy are used for management of patients who have large, symptomatic lesions with long-standing, disabling functional instability. Surgical stabilization may be required for unstable spinal lesions. Various treatment options, including pleurectomy, pleurodesis, thoracic duct ligation, radiation therapy, interferon therapy, and bleomycin, have been used for management of patients with Gorham’s disease presenting with chylothorax. In general, no single treatment modality has proven effective in arresting the disease.