Gorham-Stout Disease

Children with Gorham-Stout disease experience gradual bone loss (osteolysis) caused by an abnormal overgrowth of lymphatic vessels. These vessels are a normal part of the body’s lymphatic system, which transports a clear fluid containing white blood cells called lymph around the body to help clear toxins and waste. In patients with Gorham-Stout, these thin-walled lymphatic vessels expand (dilate) and multiply, leading to the rapid breakdown of bone (bone resorption).

In children and young adults, bone resorption is a normal process of bone growth, in which new bone replaces old. For those with Gorham-Stout, the overgrown lymphatic vessels may change the balance of bone formation and loss, leading to loss of bone and presence of lymphatic vessels where bone used to be.

Gorham-Stout disease is sometimes called vanishing bone disease or idiopathic or progressive massive osteolysis.

The cause of Gorham-Stout is unknown. There is no evidence that the disease is hereditary or caused by environmental factors. However, active research is underway at Boston Children’s and other institutions to possibly identify a mutation that could cause the lymphatic and bone disorder.

Gorham-Stout may affect multiple bones, but in most cases it is a regional disease, meaning it stays in one region of the body. For example, your child may have Gorham-Stout only in the bones of his or her shoulder and arm, but nowhere else in the body.

Bones commonly affected by Gorham-Stout include:

• Ribs
• Spine
• Pelvis
• Skull
• Collarbone (clavicle)
• Shoulder
• Jaws

The signs and symptoms of Gorham-Stout can vary widely and can range from mild to severe, depending on the location of the disease and the bones and soft tissues it affects.

A common early sign of the disease is pain and swelling near the affected region without any clear cause. Other children may experience no symptoms until suffering a spontaneous fracture after minor trauma to the bone. A common misbelief is that Gorham-Stout disease is caused by fractures, but these are simply symptoms of the progressive bone loss.

Other symptoms that vary by location include:

Gorham-Stout in the ribs or thoracic vertebrae:

• Breathing difficulty
• Chest pain
• Weight loss
• Chylothorax, a condition where a lymphatic fluid called chyle leaks into and accumulates in the chest, leading to infection or respiratory distress

Gorham-Stout in the spine and skull:

• Neurological complications
• Acute spinal pain
• Paralysis (depending on which vertebrae it affects and how far the disease has progressed)
• Occasionally, spinal fluid leak

Gorham-Stout in the jaw (maxillofacial bones):

• Jaw pain
• Loose teeth
• Fractures and facial deformity

There is no one test that can positively diagnose Gorham-Stout disease. Your child’s physician will conduct a thorough medical exam and ask questions to create a detailed medical history.

Your child’s physician may also recommend one or more of the following tests:

• Magnetic resonance imaging (MRI)
• CT scan
• Biopsy

MRI or CT scans of a patient with Gorham-Stout will show bone that has disappeared, appears to have holes in it or looks hollow.

Your child’s specific treatment plan depends on several factors, including the part of the body affected, severity and progression of the disease, and related complications.

Medication

Anti-vascular and immunosuppressant medications have proven effective for slowing and even reversing the damaging effects of Gorham-Stout. Boston Children’s offers a clinical trial using these medications, which target the lymphatic vessels that grow abnormally and disrupt the body’s normal bone regeneration process:

• Sirolimus: This oral medication suppresses the immune system and targets lymphatic vessel formation. Also known as rapamycin, it has been found to effectively slow the progression of Gorham-Stout, reduce symptoms and complications, and generally stabilize the disease.
• Interferon alfa-2b: This medication inhibits the formation of lymphatic vessels and improves symptoms.
• Bisphosphonates: This is a class of medications designed for osteoporosis that work to slow bone loss and can help to stabilize Gorham-Stout disease.

Surgery

Surgery alone cannot cure Gorham-Stout. However, your child’s physician may recommend a surgical procedure to stabilize or remove affected bone, or to treat symptoms and complications related to the disease. Your child may need to take a course of medication in conjunction with or before surgery to successfully stabilize the disease. Surgical outcomes are improved when the disease is under control at the time of surgery.

Surgical recommendations may include:

• Spinal reconstruction or spinal fusion surgery to stabilize affected vertebrae
• Bone graft surgery, which in some cases can stimulate the formation of new bone
• Surgical removal of affected bone, which may be replaced by the bone graft surgery above or with an artificial, or prosthetic, bone implant

Radiation therapy

Your child’s physician may recommend radiation to treat pain and other symptoms of Gorham-Stout. Radiation is also an effective treatment for complications of the disease, such as chylothorax, a leakage of lymphatic fluid into the chest. However, due to delayed side effects of radiation therapy, it isn’t recommended as first-line therapy.

With fewer than 300 known cases of Gorham-Stout, the majority of physicians will never encounter this rare bone disorder. The expert team at Boston Children’s Vascular Anomalies Center has treated or consulted on more than 50 patients from all over the world, giving us extensive experience diagnosing and treating Gorham-Stout at different ages.

Because Gorham-Stout affects surrounding tissues in addition to bone, we often need to treat related complications as well as the disorder itself. Your child will benefit from the expertise of a comprehensive, multidisciplinary team working together to develop a customized treatment plan.

While there is no cure for Gorham-Stout, our groundbreaking research with investigational drug therapies has reversed or lessened some of the effects of the disease in many children.

Our patients have access to the latest clinical protocols for investigational drug therapies. We are currently studying the use of immunosuppressant medications to slow and even halt the progression of Gorham-Stout disease.