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Home / For Patients and Families / Rare Disease Information /Gorham-Stout Disease

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Gorham-Stout Disease
NORD gratefully acknowledges Francine Blei, MD, MBA, Medical Director, Vascular Anomalies
Program, Lenox Hill Hospital of Northwell Health; Michael T. Dellinger, PhD, Research Director,
Lymphatic Malformation Institute; and Jack Kelly, Lymphangiomatosis & Gorham's Disease Alliance, for
assistance in the preparation of this report.

General Discussion
Summary
Gorham-Stout disease (GSD), which is also known as vanishing bone disease,
disappearing bone disease, massive osteolysis, and more than a half-dozen other
terms in the medical literature, is a rare bone disorder characterized by progressive
bone loss (osteolysis) and the overgrowth (proliferation) of lymphatic vessels. Affected
individuals experience progressive destruction and resorption of bone. Multiple bones
may become involved. Areas commonly affected by GSD include the ribs, spine,
pelvis, skull, collarbone (clavicle), and jaw. Pain and swelling in the affected area may
occur. Bones affected by GSD are prone to reduced bone mass (osteopenia) and
fracture. The severity of GSD can vary from one person to another and the disorder
can potentially cause disfigurement and functional disability of affected areas. The
exact cause of GSD is unknown.
Introduction
The lymphatic system consists of a network of tubular channels (lymph vessels) that
transport lymph back into the bloodstream. Lymph is fluid that contains proteins, fats,
and lymphocytes. As lymph moves through the lymphatic system, it passes through a
network of lymph nodes that help the body to deactivate sources of infection (e.g.,
viruses, bacteria, etc.) and other potentially injurious substances and toxins. Groups of
lymph nodes are located throughout the body, including in the neck, under the arms
(axillae), at the elbows, and in the chest, abdomen, and groin. The lymphatic system
also includes the spleen, which filters worn-out red blood cells and produces
lymphocytes; and bone marrow, which is the spongy tissue inside the cavities of
bones that manufactures blood cells. GSD is a rare disease that is thought to be
caused by an error in the development of the lymphatic system. In individuals with
GSD, bones become infiltrated with lymphatic vessels and are broken down and
replaced by a fibrous band of connective tissue.

Signs & Symptoms

The symptoms of GSD depend upon the specific bones involved. The ribs, spine,
pelvis, skull, collarbone (clavicle), and jaw are the most commonly affect bones in
GSD. In some cases, affected individuals may rapidly develop pain and swelling in the
affected area. In other cases, affected individuals may experience a dull pain or ache
or generalized weakness that builds over time. Trauma is often a trigger of the initial
presentation of the disease. Bones affected by GSD are prone to pathological
fractures.
When GSD affects the maxillofacial area, pain, loose teeth, fractures and facial
deformity may develop.
Involvement of the spine or skull base can be associated with neurological
complications. Involvement of the spine can also potentially result in chronic or acute
pain or paralysis (paraplegia). Some medical references have reported an association
with meningitis in such cases. Meningitis is inflammation of the membranes
(meninges) covering the brain and spinal cord, usually due to infection.
Involvement of the thoracic cage can lead to chylothorax, which is the accumulation of
chyle in the space between the membranes (pleura) that line the lungs and chest
cavity. Chyle is a milky fluid that consists of lymph and fat. Chylothorax can cause
difficulty breathing (dyspnea), rapid breathing (tachypnea), chest pain or respiratory
compromise. Chylothorax can eventually progress to cause life-threatening respiratory
complications. Chylous ascites (accumulation of chyle in the abdominal cavity) can
also occur in patients with GSD.
Some individuals with GSD may develop abnormal fluid accumulation around the
heart (pericardial effusion). Specifically, the fluid accumulates in the pericardium, the
sac-like structure that surrounds the heart.
Clinical Course – Outcomes
The prognosis for GSD patients is uncertain and variable and depends on the extent
of the disease, the part of the body involved, and underlying proliferative
progressiveness of the disease. Pulmonary involvement with chylothorax or spinal
involvement may confer a poor prognosis, sometimes leading to death. In other cases,
lesions may remain stable for long periods of time.

Causes
The exact cause of GSD is unknown. No environmental, immunological or genetic risk
factors have been identified. Most cases occur randomly for no known reason
(sporadically).
Bone loss in GSD is accompanied by the uncontrolled growth (proliferation) of
lymphatic tissue. The signal that stimulates this abnormal proliferation of vascular and
lymphatic tissue is unknown. However, laboratory research has implicated specific
growth factors (e.g. vascular endothelial growth factor [VEGF]) in modulating
lymphatic vessel growth and bone development and destruction. Future investigations
will reveal the role these growth factors serve in promoting GSD.
Some investigators have speculated that circulation issues lead to a deficiency of
oxygen being delivered to affected areas, which, in turn, causes changes in pH and
promotes the activity of specific enzymes that ultimately cause the destruction of
bone.
Osteoclasts are large cells that degrade bone. Several reports suggest that
osteoclasts play a role in the resorption of bone in GSD. Active osteoclasts have been
observed in histological samples from some patients with GSD. Additionally, CTX-1 (a
circulating marker of osteoclast activity) has been reported to be elevated in several
GSD patients. It has been suggested that osteoclast precursors in GSD patients are
more sensitive to osteoclast-inducing factors than osteoclasts precursors in unaffected
individuals. Also, interleukin-6 (a factor that induces osteoclast formation) has been
reported to be elevated in some patients with GSD. More recently, a basic science
study revealed that lymphatic endothelial cells (LECs) express a high level of
macrophage colony stimulating factor (M-CSF), a factor that induces the development
of osteoclasts. Interestingly, LECs were found to induce osteoclast formation and
activity in an M-CSF dependent manner. More work is required to elucidate the role of
osteoclasts in GSD.
Taken together, the specific reason that GSD develops is simply not well understood.
More research is necessary to determine the exact cause and underlying mechanisms
that ultimately result in GSD.

Affected Populations
GSD usually affects children and young adults under the age of 40. However, the
disorder has been reported in an infant less than one month old and an adult more
than 70, suggesting GSD can potentially affect individuals of any age. Some medical
sources state that males are affected more often than females. Other medical sources
state that the ratio is even (1:1). More than 300 affected individuals have been
reported in the medical literature. Because GSD is so rare, many cases go
undiagnosed or misdiagnosed making it difficult to determine the disorder’s true
frequency in the general population.

Related Disorders
Symptoms of the following disorders can be similar to those of GSD. Comparisons
may be useful for a differential diagnosis.
Bone loss (osteolysis) can be caused by several different conditions including
infection, inflammation, cancer and certain endocrine disorders. Several different
disorders have been noted in the differential diagnosis of GSD including Hajdu-
Cheney syndrome, Paget’s disease, rheumatoid arthritis, fibrous dysplasia,
Langerhans cell histiocytosis, Winchester syndrome, carpal tarsal osteolysis,
idiopathic multicentric osteolysis, multicentric osteolysis with nephropathy, and
eosinophilic granulomatosis. (For more information on these disorders, choose the
specific disorder name as your search term in the Rare Disease Database.)
Generalized lymphatic anomaly (GLA, formerly known as lymphangiomatosis) is
closely related to GSD. Patients with GLA have multifocal lymphatic malformations.
These malformations can be present in bone, but do not cause the loss of cortical
bone, as observed in GSD.
Diagnosis
There is no specific test or procedure that definitively diagnoses GSD, which is partly
a diagnosis of exclusion. A diagnosis is made based upon identification of
characteristic symptoms, a detailed patient history, a thorough clinical evaluation and
a variety of specialized tests including biopsies and specialized imaging techniques.
Clinical Testing and Work-Up
A biopsy, which is the surgical removal and microscopic study of affected tissue, can
reveal the presence of abnormal lymphatic tissue and characteristic bony changes.
There is a caution reported in taking biopsies of rib lesions whenever possible since
these biopsies may lead to chronic pleural effusions.
Imaging techniques including plain x-rays, ultrasound, radioisotope bone scans,
computerized tomography (CT) scanning, and magnetic resonance imaging (MRI)
may be used to aid in obtaining a diagnosis. The findings for these exams may be
variable, but can show dissolution, fragmentation and fracture of bones. These tests
can also be useful in showing the extent of the disease and in detecting soft tissue
involvement. In the finding of the presence of bone loss, full-body skeletal scans are
useful in the differential diagnosis – especially related to the closely related, multifocal
GLA disorder. Newer imaging techniques provide anatomic clarity, such as non-
contrast magnetic resonance (MR) lymphangiogram, dynamic contrast MR
lymphangiography and intranodal lymphangiogram are available at some institutions.

Standard Therapies
Treatment
GSD (and GLA) can present at any age. Diagnosis, treatment, and care generally
require a multidisciplinary team. Access to care is available through the worldwide
Vascular Anomalies Clinical Network. For more information on expertise and consult,
contact the Lymphangiomatosis & Gorham’s Disease Alliance.
There is no consensus in the medical literature as to what is the most effective
treatment for GSD. Treatment is usually directed toward the specific symptoms that
are apparent in each individual.
Surgery to remove the affect areas of bone has been performed to treat individuals
with GSD. In some cases, a bone graft, which stimulates or augments the formation of
new bone, may be used in conjunction with the surgical removal of affected bone.
However, bone grafts can only be used after stabilization of the osteolytic process.
Consequently, some physicians prefer the use of artificial (prosthetic) bone to replace
bone removed by surgery.
Radiation therapy, sometimes in conjunction with surgery, has also been used to treat
individuals with GSD. Radiation therapy has proven effective in treating some affected
individuals, achieving pain relief and arresting the spread of osteolysis. Radiation
therapy has also been effective in treating chylothorax, which is sometimes associated
with GSD.
According to cases reported in the medical literature, positive results have been
achieved with a total dose of 30 to 45 Gy. In one reported case, positive results were
achieved using a total dose of 15 Gy in an individual with GSD affecting the upper
extremity.

Investigational Therapies
Some individuals with GSD have been treated with medications that inhibit bone
resorption (bisphosphonates) such as pamidronate or zoledronic acid. Some
individuals have also been treated with interferon alfa-2b, which inhibits the formation
of blood and lymphatic vessels. These treatments have led to the improvement of
symptoms (e.g., pain), but individual response is highly variable. In some cases,
bisphosphates and interferon alfa-2b have been used concurrently to treat affected
individuals.
Additional medications that promote bone regeneration and decrease bone
metabolism that have been used to treat individuals with GSD include vitamin D,
cisplatin, bleomycin, magnesium, estrogen, fluoride, calcium and the hormone
calcitonin. The effectiveness of such therapies is highly variable and inconsistent.
Sirolimus, an mTOR inhibitor, is a novel therapy increasingly being used to treat GSD.
However, clinical trials involving larger numbers of patients are required to determine
the effective dose, duration of treatment, and effectiveness of such a therapy for GSD.
In the future, the International Patient Registry by the Lymphangiomatosis & Gorham’s
Disease Alliance (https://www.lgdalliance.org/registry) will assist in the development of
future clinical trials.
Supported by the Lymphatic Malformation Institute, and others, the Vascular
Anomalies Center (VAC) at Boston Children’s Hospital has established a data registry
for patients with rare, complicated lymphatic conditions. The Lymphatic Anomalies
Registry is seeking to collect clinical data from patients to improve the understanding
of these diseases – including GSD and GLA.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov .
All studies receiving U.S. government funding, and some supported by private
industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in
Bethesda, MD:
NIH Patient Recruitment Office:
Toll-free: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov
For information about clinical trials sponsored by private sources, in the main, contact:
www.centerwatch.com
For more information about clinical trials conducted in Europe,
contact:http://www.clinicaltrailsregister.eu/
NORD Member Organizations

 Lymphangiomatosis & Gorham’s Disease Alliance, Inc. (LGDA)

o 19919 Villa Lante Place
o Boca Raton, FL 33434
o Phone: (561) 441-9766
o Email: info@lgdalliance.org
o Website: http://www.lgdalliance.org/

Other Organizations

 Genetic and Rare Diseases (GARD) Information Center

o PO Box 8126
o Gaithersburg, MD 20898-8126
o Phone: (301) 251-4925
o Toll-free: (888) 205-2311
o Website:http://rarediseases.info.nih.gov/GARD/
 Lymphatic Education & Research Network
o 261 Madison Avenue
o 9th Floor
o New York, NY 10016 USA
o Phone: (516) 625-9675
o Email: LERN@LymphaticNetwork.org
o Website:http://www.lymphaticnetwork.org
 Lymphatic Malformation Institute
o 7475 Wisconsin Ave
o Suite 600
o Bethesda, MD 20814
o Email: mdellinger@lmiresearch.org
o Website: http://www.lmiresearch.org

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