Gorham's Disease: What is it and How is it Treated?

Gorham's disease is a rare congenital disorder. It was first discovered by Gorham and Stout in 1955. It is sometimes alternately called lymphangiomatosis. Onset can occur anytime from infancy to adulthood. Any part of the skeleton can be affected but it is most often recognized when it affects the bones of the cranium or face. It is often seen after some type of traumatic insult to the skeleton. Gorham's disease is extremely rare with less than 200 reported cases. The etiology of Gorham's disease is unknown and is thought to result from an interosseous proliferation of lymphatic vessels that absorb the bone. Why this proliferation of vessels occurs is not really understood. Gorham's is hard to diagnose and is sometimes mistaken for cancer of Pages disease.

Symptoms include dull muscle pain, progressive weakness, localized pain swelling and pathological fractures. Some people with the disease are asymptomatic and the ultimate outcome depends on what area of the body is affected. Gorham's rate of progression varies which makes prognosis difficult. Involvement of the spine and skull can cause neurological complications and have poor outcomes. The disease result is deformity and functional disability.

Gorham's disease is diagnosed by biopsy positive for angiomatous tissue. X-rays MRI's and ct can monitor the disease but aren't diagnostic.

Treatment is primarily palliative and aimed at pain relief and support of function with some experimental treatments being used. Experimental treatments include the drug Interferon, chemotherapy, bone grafts, amputation, radiation therapy, thalidomide, high protein diet, prosthesis, Alpha2b and surgical stabilization

Gorham's disease has many synonyms including disappearing bone disease, massive osteolysis, lymphangiomatosi, and hemangiomatosis to name a few. As yet, no definitive name for the disorder has been agreed upon.

Gorham's disease is considered one of the orphan diseases because of its rare occurrence information is limited and Because of its rarity it is often misdiagnosed. Finding a medical practitioner to care for you if you have Gorham's disease can be difficult. LGD alliance has a patient support liaison that may be able to help you find a doctor. They have compiled a list of 75 doctors who have some familiarity with Gorham's disease and its various treatments. LDH alliance can be contacted at:

support@lgdalliance.org

While they don't endorse any particular doctor or facility their list can give you a place to start in finding someone at least familiar with the Gorham's disease and it's treatment.

http://www.lgdalliance.org/en/aboutGorhamsDisease/Default.aspx

http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Gorham's+Disease

http://en.wikipedia.org/wiki/Gorham's_disease