Gorham-Stout syndrome, which is extremely rare, is a disease of the skeletal system. The bone dissolves and is replaced by blood as well as 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 condition that affects the bone system in humans. The bone begins to dissolve locally. In its place, blood and lymph vessels grow and multiply very quickly. Basically, this can happen anywhere in the entire skeletal system. The dissolution of the bone can be classified as a massive appearance. The disease is mainly diagnosed in children and young adults. An occurrence in the elderly has not been reported to date. There is no gender-specific probability of occurrence of Gorham-Stout syndrome. Both sexes are equally affected. The sporadic occurrence of bone loss in affected individuals can be considered a distinctive feature of Gorham-Stout syndrome. In addition, there may be a spontaneous cessation of bone loss. 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 sufferers have been reported and documented worldwide.
Causes
The rare occurrence and the small number of sufferers to date 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 reaction in the organism. The effectiveness and functionality of interleukin-6 is particularly important during acute inflammatory episodes in the body. In patients suffering from Gorham-Stout syndrome, it was found that interleukin-6 does not perform its regulatory function adequately. Reasons for this are not yet known. Subsequently, scientists assume that increased osteoclast activity or angiomatosis takes place. Osteoclasts are cells that arise from the bone marrow and whose function in the organism is the resorption of bone tissue. Angiomatosis refers to tumors in the area of blood and lymph vessels. These develop when the immune system is weakened.
Symptoms, complaints, and signs
Sufferers of Gorham-Stout syndrome exhibit an accumulation of lymphatic fluid, also called chylothorax. This occurs in the area of the thoracic cavity or so-called pleural cavity. Once there is a thoracic manifestation at the level of the chest, pulmonary complications can occur. These include respiratory infections, bronchospasm, respiratory insufficiency, pneumothorax, atelectasis, pneumonitis, or pleural effusion. The first signs are symptoms such as a general feeling of pain, swelling, and fractures. Gorham-Stout syndrome produces discomfort in single or multiple bones. Usually, these are adjacent and increase the local pain. Preferably, the discomfort occurs in the area of the pelvis, shoulder girdle, spine, as well as the skull. There are very few documented cases in which extremities are affected. In most cases, the bone tissue of the affected person completely disappears in the affected areas and is replaced by blood and lymph vessels. The region where there was once solid bone in the body becomes a soft, so-called fibrous band composed of connective tissue.
Diagnosis
The diagnosis of Gorham-Stout syndrome is made clinically. Before it can be diagnosed, a number of other conditions must be ruled out. Chief among these are infectious diseases, inflammation, tumors, and endocrine disorders. Radiological examinations take place and tissue samples are also taken from the affected areas. Histopathological examinations lead to the fact that microscopically the tissue can be clearly defined as blood and lymphatic vessels. Because a variety of different examinations are necessary, Gorham-Stout syndrome is a follow-up diagnosis rather than an initial diagnosis.A peculiarity of the disease is that the progression and thus a progression of the disease at any time spontaneously without further signs can find its end.
Complications
Gorham-Stout syndrome causes symptoms predominantly in the chest and respiratory tract. It is relatively easy for the respiratory tract to become infected, resulting in severe inflammation and discomfort. In the worst case, the patient dies from such an infection. Likewise, increased pain occurs in these regions, which considerably reduces the patient’s quality of life. Certain regions of the body may swell and ache, and the pain may also take the form of pain at rest. It is not uncommon for pain at rest to lead to sleep disturbances and irritability in the patient. Furthermore, Gorham-Stout syndrome causes damage to the skull and also to the spine. The patient is generally susceptible to various diseases and infections. The risk of developing tumors is also greatly increased by Gorham-Stout syndrome. 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 see a doctor?
Treatment for Gorham-Stout syndrome is necessary in all cases. If treatment is not received, the affected person may die from the disease in the worst case. The affected person should then consult a doctor if there are respiratory infections and thus various respiratory problems. Blue discoloration of the skin may also indicate the syndrome and should be examined by a physician. Many patients experience severe pain or swelling. Fractures may also occur. Bone fractures generally always need to be treated by a doctor to prevent the bones from fusing together incorrectly. This can prevent further complications and discomfort. As a rule, the person affected by Gorham-Stout syndrome should see a general practitioner. This doctor can then refer the patient to a specialist, who will perform the treatment. However, in severe cases or after an accident, treatment in a hospital is necessary. An emergency physician may also be called.
Treatment and therapy
Due to the rarity of the disease and the very manageable number of documented cases, no fully adequate and recognized treatment has yet been found. Researchers and scientists are therefore working individually, using a variety of approaches. Known interventions include radiation therapy, chemotherapy and the administration of various drugs. These are administered alone or in combination. Mostly, preparations such as vitamin D, calcium glycerophosphate or sodium fluoride are used. In addition, bisphosphonates are used. These are chemical substances that have been specially developed for bone diseases and are intended to stop the degradation of the bone. As a supportive measure, the patient is often also administered interferon-α2b. These are cellular defense substances that the body produces itself against the spread of viral infections in the tissue. Surgical interventions have already been successfully implemented on several occasions. Where possible, this involves removing the lymphatic fluid and connecting the pleura to the pleura. In one documented case, a patient whose spine was affected underwent surgical stabilization of the spine and an active body fusion. A combined posterior and anterior stabilization was performed along the entire spine from the occiput to the thoracic spine. No further spread of the disease was seen in the later course. Because the disease spontaneously arrested several times in affected patients, the establishment of an adequate treatment regimen is difficult.
Outlook and Prognosis
The position of a uniform or manageable prognosis cannot be solidly given in the syndrome. In principle, spontaneous interruption of disease progression may occur at any time in Gorham-Stout syndrome. Several times it has been reported that the disease has come to a sudden and unexpected halt in patients without sufficiently comprehensible reasons.Regardless of the stage of the disease, there is therefore a possibility that the complaints do not increase and the gradual bone loss stops independently. In a large number of cases, however, an unfavorable course is documented. Although there are not many patients of this disease worldwide so far, 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 especially in this area. These lead to a reduced life expectancy and thus 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 complicates the management of the disease and creates difficulties in providing optimal medical care. In addition, the reasons for the repeatedly observed halt in disease progression have not yet been adequately clarified.
Prevention
The possibility of taking preventive measures are not known.
Follow-up
In Gorham stout syndrome, the options for follow-up care are severely limited in most cases. Affected individuals are primarily dependent on direct treatment of the symptoms by a physician, although a complete cure cannot always be guaranteed. Possibly, the life expectancy of the affected person is also limited or reduced by Gorham-Stout syndrome. In most cases, treatment is through chemotherapy or radiation therapy. During this process, sufferers often rely on the support of friends and family. Psychological support is also very important to alleviate the symptoms. Taking vitamin D can also be helpful and support the treatment. The patient should make sure to take it regularly in order to alleviate the symptoms. It is not uncommon for Gorham-Stout syndrome to require surgical intervention. Patients should always rest and take it easy on their bodies after such an operation. Exertion or other stressful activities should therefore be avoided. Since the therapy of Gorham-Stout syndrome is relatively long, psychological treatment is often also necessary, in which relatives and friends can also participate.
This is what you can do yourself
It is not possible to treat Gorham-Stout syndrome by means of self-help or to support treatment by it. Patients depend on medical treatment for this disease in any case to avoid a decreased life expectancy. Since the disease is often treated by chemotherapy, patients are often dependent on outside help in their daily lives. This help should be provided primarily by friends or by the patient’s own family and should relieve the patient in his or her 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, a doctor should always be consulted, as he or she should determine the amount of these supplements. Since Gorham-Stout syndrome often leads to psychological complaints as well, these can be alleviated by empathetic discussions with one’s own family or with other trusted persons. In the case of children, care should be taken to provide complete information about the disease so that no further questions remain unanswered. Furthermore, contact with other affected persons can have a good 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.
