Gorham-Stout syndrome: disappearing bone disease

The Gorham-Stout syndrome is a very rare disease that is also called the 'disappearing bone disease'. It leads to the process of bone renewal being disrupted, so that bone is broken down faster than new bone is produced. The gap is then filled with vascular tissue. The condition is usually accompanied by a lot of pain, swelling and loss of strength. Depending on which bones are affected, the condition can be life threatening. This is mainly the case when the skull or spinal cord is affected by Gorham-Stout syndrome.

Gorham-Stout syndrome


What is Gorham-Stout syndrome?

The Gorham-Stout syndrome or Gorham's disease is also called the 'disappearing bone disease' (vanishing bone disease) called. It is a very rare condition, the main symptom of which is the abnormal production of blood vessels, which slowly displace bone, causing it to perish literally. The symptoms of the condition are very diverse, depending on which bones are affected. It can occur anywhere in the skeleton, but most often it involves the shoulder, upper arm, pelvis, jaw, ribs and spine.
The condition is named after the oncologist Lemuel Whittington Gorham and surgeon Arthur Purdy Stout. In 1954 they published a case study of sixteen cases that were later classified as Gorham-Stout syndrome.

Symptoms

The condition is often noticed by acute pain and swelling on one of the affected bones, possibly also in combination with a decrease in strength and visible deformation of a joint. However, it is also possible that you are free of complaints until you get a fracture due to an innocent trauma. The progression of the disease varies from patient to patient and is difficult to predict. Where one patient can undergo a stabilization or remission, the disease can worsen in another so that it has a fatal outcome. This is especially the danger when the skull or backbone is affected. In many cases, this leads to paralysis and possibly even the failure of the respirator. Patients who present themselves to a doctor with respiratory problems due to Gorham-Stout syndrome are often firstly incorrectly diagnosed with asthma because the damage to the lungs can be very similar to the damage that can be caused by asthma.
In 2018, doctors from the Royal Infirmary of Edinburgh hospital in Scotland published the case of a 44-year-old woman. She reported to a specialist with pain and loss of strength in her left shoulder. X-rays showed that the bone in her shoulder and upper arm showed lesions and thinners. Initial biopsies did not lead to a definitive diagnosis. Twelve months later, when the woman still suffered from pain and swelling, an X-ray was taken again. This showed that the bone was affected to an advanced degree. An MRI showed an increase in vascular lesions. Subsequent x-rays and MRIs subsequently showed that the disease progressed rapidly. Photos taken fifteen and eighteen months after the first showed that the bone had largely perished. As a result, the diagnosis of Gorham-Stout syndrome was made, of which only 64 cases were known worldwide until then.

Cause

The cause of Gorham-Stout syndrome is still unknown until 2019. Bone cells are normally destroyed and recreated in a cycle, resulting in bone renewal. Cells called osteoclasts break down bone in that case, while the osteoblasts build up bone again. The speed with which both processes take place is normally balanced. In patients with Gorham-Stout syndrome, however, this balance is disturbed, so that the bone is broken down faster than it is recreated. The space that is left open in these patients is filled with vascular tissue. Some researchers have suggested that the increase in osteoclast activity may possibly be explained by increasing paracrine or autocrine excretion. In addition, an increase in the interleukin-6 value (IL-6) has been remarkably found in Gorham-Stout patients. However, there is no consensus among researchers on the exact mechanism behind this.

Therapy

The treatment that is used for patients with Gorham-Stout syndrome is not curative but palliative in nature. It is also possible that bone breakdown stops spontaneously and therefore no treatment is needed. If the disease affects the chest it is often necessary to intervene surgically to prevent the respirator from entering the vessel. Various treatment methods have been described in the literature, including pleurodesis, pleura puncture, sclerocompression therapy, radiation therapy, chemotherapy, bone transplants and amputation, depending on where the bone injury is located.

Video: Gorham-Stout disease vanishing bone disease disappearing bone disease phantom bone disease (April 2020).

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