What is 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.
How common is Gorham’s disease?
Gorham’s disease, also known as the Disappearing Bone Disease, is an extremely uncommon medical condition of the skeletal system. Please discuss with your doctor for further information.
What are the symptoms of Gorham’s disease?
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.
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). This can have serious consequences, including loss of protein, malnutrition, and respiratory distress and failure.
There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.
When should I see my doctor?
If you or your loved one has any signs or symptoms listed above or you have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.
What causes Gorham’s disease?
As of now, etiology of Gorham’s disease is not known and is a matter of ongoing research. 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 increases my risk for Gorham’s disease?
Please consult with your doctor for further information.
Diagnosis & treatment
The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.
How is Gorham’s disease diagnosed?
There is no specific test or procedure that definitively diagnoses Gorham’s disease, which is partly a diagnosis of exclusion. A diagnosis is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests including biopsies and specialized imaging techniques.
Clinical testing and work-up
A biopsy, which is the surgical removal and microscopic study of affected tissue, can reveal the presence of abnormal lymphatic tissue and characteristic bony changes. There is a caution reported in taking biopsies of rib lesions whenever possible since these biopsies may lead to chronic pleural effusions.
Imaging techniques including plain x-rays, ultrasound, radioisotope bone scans, computerized tomography (CT) scanning, and magnetic resonance imaging (MRI) may be used to aid in obtaining a diagnosis. The findings for these exams may be variable, but can show dissolution, fragmentation and fracture of bones. These tests can also be useful in showing the extent of the disease and in detecting soft tissue involvement. In the finding of the presence of bone loss, full-body skeletal scans are useful in the differential diagnosis – especially related to the closely related, multifocal GLA disorder. Newer imaging techniques provide anatomic clarity, such as non-contrast magnetic resonance (MR) lymphangiogram, dynamic contrast MR lymphangiography and intranodal lymphangiogram are available at some institutions.
How is Gorham’s disease treated?
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.
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. 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. 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.
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.
Lifestyle changes & home remedies
What are some lifestyle changes or home remedies that can help me manage Gorham’s disease?
If you have any questions, please consult with your doctor to better understand the best solution for you.
Hello Health Group does not provide medical advice, diagnosis or treatment.
Gorham-Stout Disease https://rarediseases.org/rare-diseases/gorham-stout-disease/ Accessed March 9, 2018
Gorham's Disease: Know the Causes, Symptoms, Treatment of Disappearing Bone Disease https://www.epainassist.com/bones/gorhams-disease-or-disappearing-bone-disease Accessed March 9, 2018
Gorham's disease https://rarediseases.info.nih.gov/diseases/6542/gorhams-disease Accessed March 9, 2018
Review Date: March 9, 2018 | Last Modified: March 9, 2018