What Is Gorham’s Disease or Disappearing Bone Disease?
Gorham’s Disease, also known by the name of Disappearing Bone Disease, is an extremely uncommon medical condition of the skeletal system which does not have a specific etiology in which there is uncontrolled proliferation of lymphatic channels within the bone causing resorption and replacement of bone fibrosis.1 Gorham’s Disease or Disappearing Bone Disease does not have any clear cut treatment and only treatments conducted are clinical trials with mixed results.
What Causes Gorham’s Disease or Disappearing Bone Disease?
As of now, etiology of Gorham’s Disease or Disappearing Bone Disease is not known and is a matter of ongoing research.1 In the human body, bone mass and strength are maintained through process of destruction of bone and then replacement of the destructed bone with new bone. This change occurs at the cellular level and is an ongoing process throughout the life of an individual. There are cells called as osteoclasts, which secrete enzymes which absorb old bones and allows another type of cells called osteoblasts to form new bone. There is always a perfect balance between the bone destructed and the bone formed. In Gorham’s Disease or Disappearing Bone Disease, this balance of bone destruction and bone formation gets disrupted for some unknown reason resulting in the bones being replaced by fibrosis.
What Are The Symptoms of Gorham’s Disease or Disappearing Bone Disease?
The symptoms of Gorham’s Disease or Disappearing Bone Disease are variable depending on the bones that are involved. Gorham’s Disease or Disappearing Bone Disease may impact any part of the skeletal system, but the most common parts that are affected are the shoulders, skull, pelvic girdle, jaws, ribs, and the spine.
There have been a few cases where this disease is completely asymptomatic and the disease comes to light after the individual has sustained a fracture even with mild trauma or injury or even the bone may break on its own. Following the injury, there may be excruciating pain and swelling at the injured site. The most common symptoms of Gorham’s Disease or Disappearing Bone Disease are pain for no valid reason which worsens over time and is accompanied by weakness and at times noticeable deformity of the area. The rate at which Gorham’s Disease or Disappearing Bone Disease progresses is unknown hence to predict a prognosis for Gorham’s Disease or Disappearing Bone Disease is difficult. In some cases, the disease may start to go into remission without any intervention and in some cases this may advance to lethal proportions. There have also been cases of Gorham’s Disease or Disappearing Bone Disease recurring after being in remission for some time. If the spine or the skull is involved then the prognosis for recovery is extremely grim. All in all in the end the affected individual usually ends up being completely disabled due to Gorham’s Disease or Disappearing Bone Disease. If the ribs or the thoracic spine are involved in Gorham’s Disease or Disappearing Bone Disease then the affected individual may experience chest pain and difficulty breathing indicating a progression of the disease from the bones to the chest.
How Is Gorham’s Disease or Disappearing Bone Disease Diagnosed?
Some of the ways to diagnose Gorham’s Disease or Disappearing Bone Disease are:
If a biopsy of the affected area is done it will show a presence of angiomatous tissue. There will be no osteoblastic response or dystrophic calcifications. There will be evidence of progressive osseous resorption. There will also be presence of non-ulcerative lesions. If a radiographic study like an x-ray is taken in the initial stages it will show changes consistent with osteoporosis. With time as the disease advances there will be bone deformity that will be clearly visible on images. Eventually studies will reveal complete bone loss and formation of fibrosis over the bone. This first indication for Gorham’s Disease or Disappearing Bone Disease will be occurrence of fracture which will not heal appropriately. To confirm the diagnosis various radiographic studies like MRI and CT scans will be taken to confirm the fibrosis replacing the bone. Surgical biopsy is also done to confirm the diagnosis of Gorham’s Disease or Disappearing Bone Disease.
How Is Gorham’s Disease or Disappearing Bone Disease Treated?
The main aim of treatment of Gorham’s Disease or Disappearing Bone Disease is to control the symptoms. In some cases Gorham’s Disease or Disappearing Bone Disease goes into spontaneous remission on its own and no specific treatment is required for such cases. Aggressive treatment is required in cases where the disease has significantly advanced. The treatment for Gorham’s Disease or Disappearing Bone Disease depends on the part that is affected. Some of the treatment options depending on the area affected are as follows:
- Pleurodesis
- Pleuroperitoneal shunt
- Radiation therapy
- Pleurectomy
- Thoracentesis
- Chemotherapy
- Sclerotherapy
- Bisphosphonate
- Surgical resection
- Percutaneous bone cement
- Bone grafting.
As of now there are no known clear cut treatments for Gorham’s Disease or Disappearing Bone Disease which have been shown to be effective. All the treatments as of now are done on an experimental basis. In some cases, a combination of the above mentioned procedures may be required and in some cases all the procedures above may fail to control the symptoms caused due to Gorham’s Disease or Disappearing Bone Disease.
