Gorham-Stout Disease

Gorham-Stout Disease

Article
Bone, Muscle, & Joint
Healthy Lungs
+3
Contributed byMaulik P. Purohit MD MPHSep 17, 2018

What are the other Names for this Condition? (Also known as/Synonyms)

  • Disappearing Bone Disease
  • Gorham’s Disease
  • Vanishing Bone Disease

What is Gorham-Stout Disease? (Definition/Background Information)

  • Gorham-Stout Disease (GSD) is a very rare, progressive disorder of the bone. It is characterized by bone loss (or osteolysis), and a swelling or abnormal growth of blood vessels (angiomatous proliferation) and lymph vessels (lymphangiomatous proliferation), inside the bones
  • The exact cause of the disorder is not known. However, there are theories for the development of GSD, which include abnormalities in blood circulation, and a shift in ratio of bone-generating to bone-destroying cells that may be triggered by trauma
  • The signs and symptoms of Gorham-Stout Disease may vary among the affected individuals. The bones of the shoulder, skull, jaws, and pelvic girdle, are affected the most. There may be pain, swelling, or fracture of the affected bones. The condition may also lead to bone loss, fibrous tissue formation in areas of bone loss, dental and facial deformities, and breathing difficulties
  • The diagnosis of the condition may involve imaging studies and biopsy of affected bones. Gorham-Stout Disease is generally diagnosed through a process of exclusion; by excluding other conditions with similar presentations
  • Gorham-Stout Disease is treated with radiation therapy, medicines to stop bone destruction, and surgery. If complications such as pathological fractures and accumulation of fluid in the lungs and heart are noted, additional treatments may be necessary
  • The outcome of Gorham-Stout Disease is determined by the severity of the condition, the affected body parts, and the general health of the affected individual. In case of severe symptoms, the outlook may be guarded

Who gets Gorham-Stout Disease? (Age and Sex Distribution)

  • Gorham-Stout Disease is a rare disorder that has been reported worldwide, with no racial or ethnic predilection
  • Only about 200 cases have been recorded in the scientific literature. It is believed that owing to the rarity of GSD, there may be a misdiagnosis or non-diagnosis of the condition. And therefore, the exact prevalence of the condition may not be known
  • The symptoms of the condition can manifest themselves at any age. However, most reported cases are in individuals under the age of 40 years, with children being affected the most
  • Both genders are affected, but some reports indicate an increased susceptibility among males to GSD, when compared to females

What are the Risk Factors for Gorham-Stout Disease? (Predisposing Factors)

  • The risk factors for the development of Gorham-Stout Disease are not clearly known
  • It has been suggested that injury or trauma may be a risk factor

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Gorham-Stout Disease? (Etiology)

The exact cause of Gorham-Stout Disease is not known. However, the following theories have been proposed towards development of the condition:

A change in the bone-generating cells (osteoblasts) and bone-destroying cells (osteoclasts) ratio.

  • Under normal circumstances, bones are destroyed once they become old, and are replaced by new bones. This is a continuous cycle at the cellular level, wherein osteoclasts secrete enzymes that destroy old bones, and osteoblasts help in the formation of new bones
  • Typically, unless a bone is growing, the rate at which the bones get destroyed matches the rate at which new bones are formed, thereby maintaining the overall bone mass
  • When the process of destruction of old bones exceeds the formation of new bones, the ratio of bone formation to bone destruction is affected, causing the bones to get dissolved, but not replaced 

The changes influencing the osteoblast-osteoclast ratio may include the following:

  • An increase in vascular endothelial growth factor (VEGF), which may play a role in the proliferation of lymph vessels forming knots or cysts (lymphangiomatosis)
  • Vascular anomalies, or the abnormal development of blood vessels into the bones
  • Angiomatosis, a medical condition characterized by the presence of little knots of capillaries in various organs, including in the bones
  • Decreased blood supply to bones following a trauma
  • Elevated levels of interleukin-6 (IL-6 protein) secreted by macrophages and T-cells (white blood cells) in response to an infectious pathogen or following trauma. In GSD, there is a simultaneous increase in lymphatic tissue with bone loss
  • Increased number of paracrine or autocrine stimulated hyperactive osteoclasts

Abnormalities with blood circulation:

  • Poor circulation is believed to result in low oxygen levels in the affected tissue. This condition is known as hypoxia
  • Hypoxia leads to reduced pH of the affected tissue
  • The acidic environment may increase activity of acid hydrolases, which destroy bones

What are the Signs and Symptoms of Gorham-Stout Disease?

The signs and symptoms of Gorham-Stout Disease can vary between individuals, in regards to the area of body affected and its severity. The common symptoms of GSD may include:

  • Fractures
  • Development of fibrous tissue in the areas of bone loss
  • Angiomas: Abnormal tissue growth caused by small blood or lymphatic vessels, which may lead to swelling
  • Bone loss in the hands, arms, shoulder, ribs, pelvis, thighbone, and jaw
  • Pain and swelling in the affected area
  • Loose tooth
  • Deformity of the face
  • Recurrent meningitis 

When the condition spreads to the chest cavity, the following additional symptoms may occur:

  • Breathing difficulties, chest pain
  • Chylous pleural: It is a medical condition wherein lymphatic fluid gets accumulated in the pleural cavity
  • Pericardial effusion: An abnormal accumulation of fluid in the pericardial cavity
  • Infection
  • Respiratory problems and respiratory failure
  • Malnutrition, poor growth, weight loss

How is Gorham-Stout Disease Diagnosed?

Gorham-Stout Disease is often diagnosed when a fracture occurs that does not heal quickly. Presently, there is no one single and/or specific test to diagnose the condition. A process of elimination of other conditions with similar symptoms may be adopted towards diagnosing GSD.

A healthcare professional may require the following clinical, histopathological, and radiological observations to arrive at an accurate diagnosis:

  • A thorough physical examination and an assessment of symptoms
  • Evaluation of personal medical history
  • Ultrasound imaging, X-ray studies of the affected bones
  • Computed tomography (CT) and magnetic resonance imaging (MRI) scan of the affected bones
  • Biopsy of a sample from the affected bone: A biopsy of the affected bone is performed and sent to a laboratory for a pathological examination. A pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a diagnosis

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Gorham-Stout Disease?

Complications that may arise in individuals with Gorham-Stout Disease may include:

  • Pathological fracture: A medical condition resulting in broken bones, due to bone weaknesses
  • Pleural effusion: Accumulation of excess fluid between the layers of the pleura outside the lungs
  • Pericardial effusion: Accumulation of excess fluid between the pericardium (lining of the heart) and the heart
  • Chylous ascites: The leakage of chyle fluid into the abdominal cavity from the duct in the lymphatic system
  • Hemangioma: The formation of non-cancerous tumors caused by the formation of new blood vessels
  • Bone lysis, or the destruction of bone due to removal or loss of calcium
  • Restricted movement
  • Neurological problems with spinal cord involvement
  • Disfigurement
  • Distress and depression

How is Gorham-Stout Disease Treated?

The treatment for Gorham-Stout Disease may vary between one individual to another. The treatment effectiveness may also vary among different individuals. Often, several different treatment methods in isolation or in combination may have to be tested to arrive at the most effective treatment measure. Some individuals may have very mild symptoms that may not require any treatment.

For management of GSD, the following treatment measures may be adopted:

  • Radiation therapy
  • Steroids
  • Anti-osteoclastic medications including bisphosphonates and alpha-2b interferon
  • Surgery that may involve:
    • Resection of the lesion
    • Reconstruction through bone grafting or prostheses
  • Pleurectomy: A surgical procedure to remove part of the pleura
  • Pleurodesis: A medical procedure to join the outside of the lung to the inside of the chest to prevent a collapsed lung
  • Thoracic duct ligation
  • Use of anti-cancer chemotherapy medications

How can Gorham-Stout Disease be Prevented?

  • Presently, there are no effective methods or guideline available for the prevention of Gorham-Stout Disease
  • Active research is currently being conducted to explore the possibilities for treatment and prevention of disorders such as GSD
  • Regular medical screening at periodic intervals with tests and physical examinations are strongly recommended

What is the Prognosis of Gorham-Stout Disease? (Outcomes/Resolutions)

The prognosis of Gorham-Stout Disease depends on a number of factors, which include the severity of symptoms, the bones and organs affected, effectiveness of treatment, and the overall health of the affected individual.

  • In some cases, the condition may be mild and may only lead to limited disfigurement
  • Individuals in whom the limbs or pelvic region is involved, GSD is not considered to be life-threatening
  • In other cases, the symptoms may be severe and painful. This may affect the individual’s movement, and therefore, quality of life
  • If the lungs or spinal cord is involved, the prognosis is guarded; in such cases, the affected individuals may succumb to the condition. The reported mortality rate for GSD is around 15%
  • In some cases, it is possible for bone loss to cease on its own, several years after GSD-onset

Additional and Relevant Useful Information for Gorham-Stout Disease:

Gorham-Stout Disease is known by several synonyms, such as:

  • Acro-Osteolysis Syndrome
  • Breschet-Gorham-Stout Syndrome
  • Cystic Angiomatosis of Bone Diffuse
  • Disseminated Lymphangiomatosis
  • Essential Osteolysis
  • Gorham Vanishing Bone Disease
  • Gorham’s Syndrome
  • Idiopathic Massive Osteolysis
  • Massive Gorham Osteolysis
  • Morbus-Gorham-Stout Disease
  • Phantom Bone Disease
  • Progressive Massive Osteolysis
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Maulik P. Purohit MD MPH picture
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Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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