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.

Causes of Gorham Stout Disease #

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.

Symptoms of Gorham Stout Disease #

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

Diagnosis of Gorham Stout Disease #

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

Treatment of Gorham Stout Disease #

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.

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.