What is Gorham-Stout disease?

Gorham-Stout disease, (also known as Gorham’s disease or vanishing bone disease), is a very rare disorder that affects the skeleton, weakening bones in specific parts of the body.

In addition to bone loss, Gorham-Stout disease is characterized by the overdevelopment of lymphatic vessels, the tubes that carry lymph, a fluid containing white blood cells that helps the body clear waste and fight infection. The excess growth of lymphatic vessels into the bones disrupts the balance of bone growth and mineral replenishment, contributing to or causing bone loss.

Different bones can be affected in Gorham-Stout disease, including the ribs, spine, pelvis, arm bones, skull, collarbone and jaw. Some patients experience bone loss in just one area; others in multiple areas. Pain and swelling may be experienced in affected areas, and affected bones are vulnerable to fracture.

Causes of Gorham-Stout disease

Gorham-Stout disease has no known cause. No environmental or genetic risk factors have been identified. While it is believed that excess growth of lymphatic vessels causes the bone loss and other symptoms of the disorder, no cause has been identified for the excess lymphatic growth.

Signs and symptoms of Gorham-Stout disease

Symptoms of Gorham-Stout disease can first appear at any age, from childhood through late adulthood. Symptoms vary with the bones affected and can range from mild to severe, even life-threatening. In most cases, the disorder affects just one part of the body.

The most common symptoms are pain and swelling in the affected area, with no apparent cause. Bone fractures, especially when they occur after only minor stress or impact, are sometimes the first indications of the disorder. Affected areas may experience muscle weakness and gradual loss of function.

Other symptoms may be tied to the area of the body affected by the disorder.

• When the ribs, collarbone or thoracic vertebrae are affected, symptoms may include difficulty breathing, chest pain or weight loss.
• When the skull or jaw is affected, effects may include neurological complications, loose teeth or facial deformity.
• When the spine is affected, the disorder can progress to cause paralysis.

The symptoms of Gorham-Stout disease may resemble other problems or medical conditions. Always consult your child's doctor for a diagnosis.

How is Gorham-Stout disease diagnosed?

In addition to a complete medical history and physical examination, diagnostic tests for Gorham-Stout disease may include:

• Imaging studies, such as X-ray, ultrasound, computerized tomography (CT) scan or magnetic resonance imaging (MRI)
• A dual energy X-ray absorptiometry scan (DXA) may be used to measure bone mineral density
• A specialized test called lymphangiography may be used to detect abnormal lymphatic system growth.
• Biopsy, the surgical removal of a sample of affected tissue for examination under a microscope, may be used where it can be performed safely. A biopsy is needed to confirm a diagnosis.

Treatment for Gorham-Stout disease

Treatment for Gorham-Stout disease focuses primarily on reducing symptoms to maintain health and quality of life. In some cases, bone loss does not progress after the initial diagnosis and no treatment is needed. When bone loss or lymphatic problems progress or are severe enough to impair health, cause chronic pain or affect activities of daily living, treatment may be recommended. The specific treatments will be determined by your child's doctor in consultation with you.

Treatment may include:

• Medication — Anti-vascular, immunosuppressant and bone anti-resorptive drugs may be used to slow, and possibly reverse, the progression of bone loss.
• Surgery — Weakened or lost sections of bone may be surgically replaced with artificial (prosthetic) bone. In some cases, a bone graft may be used to stimulate the growth of new bone after damaged bone has been removed.
• Radiation therapy can slow or stop the progression of bone loss and relieve chronic pain. Radiation therapy may also be used to reduce the accumulation of lymphatic fluid in and around the lungs, a condition known as chylothorax. Radiation therapy is used with children and adolescents only after careful consideration of its long-term risks and potential effects on growth.

Follow-up care

Ongoing care, coordinated by a primary care physician or specialist who is knowledgeable about Gorham-Stout disease, is essential to the long-term health and well-being of patients. Because the disorder can affect different body functions, coordinated care by a team of appropriate specialists may be needed.

Treatment of Gorham-Stout disease at Children’s Hospital of Philadelphia (CHOP) is co-managed by the Center for Bone Health and the Comprehensive Vascular Anomalies Program.

Depending on the patient’s diagnosis and condition, coordinated care might include specialists in:

• Hematology/oncology
• Cardiology
• Pulmonology
• Gastroenterology
• Genetics
• Orthopedics and orthopedic surgery
• Radiology
• Lymphatic intervention
• Pain management
• Dental care
• Physical and occupational therapy