Gorham-Stout Syndrome Explanation

Gorham-Stout Syndrome

According to abbreviationfinder.org, the extremely rare Gorham-Stout syndrome is a disease of the skeletal system. The bone dissolves and is replaced by blood and lymphatic tissue in the affected area.

What is Gorham Stout Syndrome?

Gorham-Stout Syndrome is also known as Vanishing Bone Disease. This is a very rare disease that affects the human bone system. The bone begins to dissolve locally.

In its place, blood and lymphatic vessels grow and multiply very quickly. Basically, this can happen anywhere in the entire skeletal system. The resolution of the bone can be classified as a massive appearance. The disease is mainly diagnosed in children and young adults.

An occurrence in old people is not yet known. There is no gender-specific probability of occurrence of Gorham-Stout syndrome. Both sexes are equally affected. The sporadic occurrence of bone loss in those affected can be regarded as a special feature of Gorham-Stout syndrome.

In addition, there may be a spontaneous end to bone resorption. Gorham-Stout syndrome was first documented by medical professionals in the middle of the last century. Gorham-Stout Syndrome was named after Whittington Gorham and Arthur Stout.

The American pathologist and his colleague discovered the rare disease in 1955. To date, fewer than 200 cases of affected patients have been known and documented worldwide.


The rare occurrence and the low number of sufferers so far mean that the exact causes are still largely unclear to researchers and scientists. It has been proven that the messenger substance interleukin-6 plays a central role in the course of the disease. Interleukin-6 is responsible for regulating the complex inflammatory response in the body.

The effectiveness and functionality of interleukin-6 is particularly important during acute inflammatory episodes in the body. In patients with Gorham-Stout syndrome, it was found that interleukin-6 does not perform the regulatory function sufficiently. Reasons for this are not yet known. As a result, the scientists assume that increased osteoclast activity or angiomatosis takes place.

Osteoclasts are cells that arise from the bone marrow and whose task in the organism is the resorption of the bone tissue. Angiomatosis refers to growths in the blood and lymphatic vessels. These arise from a weakened immune system.

Symptoms, Ailments & Signs

Patients with Gorham-Stout syndrome have a collection of lymphatic fluid, also called chylothorax. This happens in the area of ​​the chest cavity or so-called pleural cavity. As soon as there is a thoracic manifestation at chest level, pulmonary complications can occur.

These include respiratory infection, bronchospasm, respiratory failure, pneumothorax, atelectasis, pneumonitis, or a pleural effusion. The first signs are symptoms such as a general feeling of pain, swelling and fractures. Gorham-Stout syndrome produces ailments in single or multiple bones.

These are usually adjacent and increase the local pain. The complaints primarily occur in the area of ​​the pelvis, the shoulder girdle, the spine and the skull. There are very few documented cases where extremities are affected.

In most cases, the patient’s bone tissue completely disappears from the affected areas and is replaced by blood and lymphatic vessels. What was once solid bone in the body becomes a soft band of connective tissue called a fibrous band.


The diagnosis of Gorham-Stout syndrome is clinical. Before it can be diagnosed, a number of other diseases must be ruled out. These primarily include infectious diseases, inflammation, tumors and endocrine diseases.

Radiological examinations take place and tissue samples are also taken from the affected areas. Histopathological examinations mean that the tissue can be clearly defined as blood and lymphatic vessels under the microscope.

Since a large number of different examinations are necessary, the Gorham-Stout syndrome is a follow-up diagnosis and less an initial diagnosis. A special feature of the disease is that the progression and thus progression of the disease can come to an end spontaneously at any time without any further signs.


The Gorham-Stout syndrome mainly causes problems in the chest and respiratory tract. The respiratory tract can be infected relatively easily, resulting in severe inflammation and symptoms. In the worst case, the patient dies from such an infection. Likewise, there is increased pain in these regions, which significantly reduces the patient’s quality of life.

Certain regions of the body can become swollen and painful, and the pain can also appear as pain at rest. It is not uncommon for pain at rest to lead to sleep disorders and irritability in the patient. Gorham-Stout syndrome also causes damage to the skull and spine.

The patient is generally susceptible to various diseases and infections. The risk of developing tumors is also greatly increased by Gorham-Stout syndrome. The treatment cannot be causal and for this reason always depends on the underlying disease.

The patient must undergo radiation and, if necessary, take medication. Whether the disease can be limited by treatment cannot be universally predicted. In most cases, however, life expectancy is reduced.

When should you go to the doctor?

Treatment of Gorham-Stout syndrome is necessary in any case. If there is no treatment, the patient can die from the disease in the worst case. The affected person should then consult a doctor if there are infections of the respiratory tract and thus various breathing difficulties.

A blue discoloration of the skin can also indicate the syndrome and should be examined by a doctor. Many patients experience severe pain or swelling. Fractures can also occur. Bone fractures generally always need to be treated by a doctor to prevent improper bone fusion. This can prevent further complications and discomfort.

As a rule, those affected by Gorham-Stout syndrome should see a general practitioner. The doctor can then refer the patient to a specialist who will carry out the treatment. In serious cases or after an accident, however, treatment in a hospital is necessary. An ambulance can also be called.

Treatment & Therapy

Due to the rarity of the disease and the very manageable number of documented cases, no completely adequate and recognized treatment has yet been found. Researchers and scientists therefore work individually and use different approaches. Well-known interventions are, for example, radiation and chemotherapy as well as the administration of various medications.

These are administered alone or in combination. Preparations such as vitamin D, calcium glycerophosphate or sodium fluoride are usually used. Bisphosphonates are also used. These are chemical substances that have been specially developed for bone diseases and are intended to stop the breakdown of bone.

Interferon-α2b is often administered to the patient as support. These are cellular defenses that the body produces itself against the spread of viral infections in the tissues. Several surgical interventions have already been successfully implemented. If possible, the lymphatic fluid is removed and the lung membrane is connected to the pleura.

In one documented case, a patient whose spine was affected was surgically stabilized and vertebral body fusion performed. A combined posterior and anterior stabilization was performed, ranging along the entire spine from the occiput to the thoracic spine.

There was no further spread of the disease later on. Since the disease spontaneously came to a standstill several times in affected patients, it is difficult to create an adequate treatment regimen.

Outlook & Forecast

The position of a uniform or clear prognosis cannot be given with the syndrome. In principle, Gorham-Stout syndrome can spontaneously interrupt the progression of the disease at any time. It has been reported several times that the disease has come to a sudden and unexpected standstill in the patients without sufficiently comprehensible reasons. Regardless of the stage of the disease, there is a possibility that the symptoms will not increase and the gradual bone loss will stop on its own.

In a large number of cases, however, an unfavorable course is documented. Although there are not many patients with this disease worldwide, most of those affected experience a significant reduction in average life expectancy. Since the respiratory tract is affected in Gorham-Stout syndrome, severe symptoms and complications occur in this area in particular. These lead to a reduced life expectancy and thus to an unfavorable prognosis.

Due to the small number of sufferers, it has not yet been possible to determine the exact causes of the disease, nor is there a uniform treatment plan for all patients. This makes it difficult to deal with the disease and creates difficulties in providing optimal medical care. In addition, the reasons for the repeatedly observed standstill in the progression of the disease have not yet been sufficiently clarified.


The possibility of being able to take preventive measures is not known.


With Gorham-Stout syndrome, the options for aftercare are very limited in most cases. Those affected are primarily dependent on the direct treatment of the symptoms by a doctor, although complete healing cannot always be guaranteed. The life expectancy of those affected may also be restricted or reduced by Gorham-Stout syndrome.

In most cases, treatment is chemotherapy or radiation therapy. Those affected often depend on the support of friends and family. Psychological support is also very important in order to alleviate the symptoms. Taking vitamin D can also be helpful and support the treatment.

The patient should take care to take it regularly to relieve the symptoms. It is not uncommon for Gorham-Stout syndrome to require surgical intervention. Those affected should always rest and protect their bodies after such an operation.

Exertion or other stressful activities should therefore be avoided. Since the therapy for Gorham-Stout syndrome is relatively lengthy, psychological treatment is often necessary, in which relatives and friends can also take part.

You can do that yourself

It is not possible to treat Gorham-Stout syndrome by self-help or to support treatment. Patients with this disease are dependent on medical treatment in any case in order to avoid a reduced life expectancy.

Since the disease is often treated with chemotherapy, patients are often dependent on outside help in their everyday lives. This help should primarily come from friends or your own family and relieve those affected in everyday life.

Strenuous activities and unnecessary stress must be avoided at all costs. Furthermore, the intake of vitamin D, sodium and calcium can have a positive effect on the course of the disease. However, you should always consult a doctor, as he should determine the amount of these supplements.

Since Gorham-Stout syndrome often also leads to psychological problems, these can be alleviated by empathetic conversations with one’s own family or with other people you trust.

Children should be fully informed about the disease so that no further questions remain unanswered. Furthermore, contact with other affected people can have a positive effect on the course of the disease and possibly contribute to an exchange of information, which can ultimately improve the quality of life of the affected person.

Gorham-Stout Syndrome