Gorham’s disease is a very rare disorder that is also known as vanishing bone disease, because it leads to the spontaneous resorption and loss of bone. Resorption is a process by which a structure is first destroyed and then absorbed by the body. Gorham’s disease can occur in any bone, but it most commonly affects the jaw, shoulders, and skull. Gorham’s disease is very unpredictable, it may or may not be painful, it may go away spontaneously, or it may lead to weak bones, fractures, and even death.
The exact cause of Gorham’s disease remains unknown, but it was first described in medical journals in the 1830s, in the case of a young man with “a boneless arm”. Gorham’s disease can affect people at any age, but it’s typically diagnosed in kids and young adults.
The symptoms of Gorham’s disease depend on where bone resorption is occurring. These symptoms generally include:
If Gorham’s disease affects the ribs, symptoms may include:
If Gorham’s disease affects the spine and skull, symptoms may include:
If Gorham’s disease affects the jaw, symptoms may include:
The exact cause of Gorham’s disease isn’t known. However, we do know the mechanism that leads to bone resorption in Gorham’s disease is due to cells called osteoclasts. Osteoclasts are cells that break down bones, while osteoblasts are cells that build up bones. Osteoclasts and osteoblasts normally exist in a balance, such that the rate of bone formation is equal to the rate of bone resorption. This helps the amount of bone to remain the same over time. In Gorham’s disease, the balance gets interrupted, and osteoclasts are hyperactive. So, overall, this leads to increased bone resorption, which causes the painful, weak bones that are seen in Gorham’s disease.
There are no known risk factors of Gorham’s disease. Gorham’s disease appears to occur in all sorts of people, regardless of their race, gender, and age.
Gorham’s disease is so extremely rare that only about 200 people have ever been recorded as having it. So, no single test has been invented to diagnose Gorham’s disease yet. A doctor will typically do a very thorough medical exam and ask a lot of questions about bones, pain, and injuries.
Because Gorham’s disease is a disorder of the bone, several scans will likely be done to get a good look at the affected bones. These scans may include X-rays, CT scans, and MRIs. The scans will help the doctors to confirm Gorham’s disease because they will show any abnormalities in the bones. Affected bones may appear as though they are shrinking or vanishing, may have holes in them, and may even have fractures or breaks.
Gorham’s disease treatment is mostly medical, with drugs called bisphosphonates that inhibit the activity of osteoclasts. This can help to reduce bone resorption, and decrease some symptoms like pain, and weak bones that lead to fractures.
Sometimes radiation therapy is used as a treatment for people who have very large regions of bone resorption, with more severe Gorham’s disease. Surgery can also be a treatment option in Gorham’s disease, but it is used sparingly. One instance where surgery is used in Gorham’s disease is when the spine is affected, and an unstable spinal cord would develop if not for surgical intervention.