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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Gorham's disease


Other Names for this Disease

  • Cystic angiomatosis of bone diffuse
  • Gorham-Stout disease
  • Gorham-Stout syndrome
  • Osteolysis massive
  • Vanishing bone disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is Gorham's disease?

What are the signs and symptoms of Gorham's disease?

How might Gorham disease be treated?

What is the long-term outlook for people with Gorham's disease?

What is Gorham's disease?

Gorham's disease is a rare bone disorder that is characterized by bone loss (osteolysis), often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone, or spread to soft tissue and adjacent bones.[1] It may affect any part of the skeleton, but most commonly involves the skull, shoulder, and pelvis. The cause of Gorham's disease is currently unknown.  Most cases occur randomly. Treatment is based on the signs and symptoms present 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]
Last updated: 10/9/2014

What are the signs and 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 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]
Last updated: 10/6/2011

How might Gorham disease be treated?

No specific therapy exists 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 include radiation therapy, steroids, and/or surgery that may involve bone grafting. 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] 

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]
Last updated: 2/21/2014

What is the long-term outlook for people with Gorham's disease?

The course of Gorham's disease varies among affected people. The rate of progression and long-term outlook (prognosis) can be hard to predict.[2][4] The disease can stabilize after a number of years, go into spontaneous remission (improve without treatment), or be fatal. Recurrence can also occur. In most cases, bone resorption stops on its own after a variable number of years.[2]

When just the limbs or pelvis are affected, there generally is no threat to life. However, pulmonary involvement with chylothorax (a type of pleural effusion) or spinal involvement (causing neurological complications) may mean a poor prognosis, and can even lead to death.[4]
Last updated: 10/9/2014

References
  1. Gorham's disease. National Organization for Rare Disorders (NORD). 2005; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/832/viewAbstract. Accessed 10/6/2011.
  2. Gondivkar SM, Gadbail AR. Gorham-Stout syndrome: a rare clinical entity and review of literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2010; 109(2):e41-48. http://www.ncbi.nlm.nih.gov/pubmed/19969488. Accessed 10/6/2011.
  3. What is Gorham’s Disease?. Lymphangiomatosis & Gorham's Disease Alliance. http://www.lgdalliance.org/patient-professional-resources/what-is-gorhams-disease/. Accessed 12/6/2011.
  4. Gorham-Stout syndrome. NORD. October 25, 2013; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/832/viewAbstract. Accessed 10/9/2014.


Other Names for this Disease
  • Cystic angiomatosis of bone diffuse
  • Gorham-Stout disease
  • Gorham-Stout syndrome
  • Osteolysis massive
  • Vanishing bone disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.