Gorham Stout Disease | Diagnosis & Treatment

>How is Gorham-Stout disease diagnosed?

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:

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.

What are the treatment options for Gorham-Stout disease?

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 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.