Gorham's disease

Gorham's disease is a rare bone disorder characterized by bone loss (osteolysis), often associated abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone, or spread to soft tissue and adjacent bones. Symtoms may include pain, swelling, and increased risk of fracture.^[1] It may affect any part of the skeleton, but most commonly involves the skull, collarbone (clavicle), pelvis, ribs, spine, and/or jaw. Depending on the bones affected, various complications may occur. The cause of Gorham's disease is currently unknown. Most cases occur sporadically.^[1] Treatment is based on the signs and symptoms in each affected person, and most commonly involves surgery and/or radiation therapy. In some cases, Gorham's disease improves without treatment (spontaneous remission).^[2]

Most cases of Gorham's disease are discovered before the age of 40. Symptoms vary among affected people and depend on the area(s) of the body involved. The most commonly involved sites are the skull, jaw, shoulder, rib cage, and pelvis. The degree of complications ranges from mild to severe, or even life-threatening. In some cases, affected people may rapidly develop pain and swelling in the affected area, or a fracture on the affected site. Others may experience a dull pain or ache, limitation of motion, or generalized weakness that builds over time. Some people don't have any symptoms.^[1]

Complications from Gorham's disease may occur when fluids build-up in the space between the membrane that surround each lung and line the chest cavity (pleural effusion).^[1] This can have serious consequences, including loss of protein, malnutrition, and respiratory distress and failure.^[3]

There is no specific therapy for people with Gorham's disease. Certain treatments may be effective in some, but not others. Several different methods are often used before finding one that is effective. In some cases, treatment may not be necessary.^[3]

Most people require intense treatment, especially if the disease has spread to other areas of the body or if there is extensive involvement in the spine and skull.^[3] Treatment options may include vitamin D and calcitonin supplements, radiation therapy, and/or surgery that may involve bone grafting. Some of the best outcomes reported have involved radiation therapy alone or in combination with surgery.^[4] Other treatments might include biphosphonates (such as pamidronate or zoledronic acid) and alpha-2b interferon. These treatments have led to improvement of symptoms in some cases. More research is necessary to determine the long-term safety and effectiveness of these therapies in people with Gorham's disease.^[1][2][4]

All treatments (pharmacological and surgical) are all still considered to be experimental since there have been no studies done to examine the effectiveness of anything used to date. In general, no single treatment has been proven effective in stopping the progression of the disease.^[3]