Have you ever seen or read about a disease that seemed so strange that you thought it was fake? The NPSi Med Club 2022’s first-ever article seeks to inform our readers about one of the rarest and strangest diseases known today- Gorham-Stout disease. More commonly known as Vanishing Bone Disease, Gorham-Stout Disease is a rare bone disorder that is caused by the loss of bones and the overgrowth of lymphatic vessels. There are less than 300 confirmed cases of this unusual disease, yet it sparks interest in millions of people worldwide.
The lymphatic vessels usually transport a clear fluid (lymph) around the body to help clear various wastes and toxins. However, someone diagnosed with the disease experiences rapid expansion and multiplication of these vessels, leading to the breakdown of bones. The bones are infiltrated by lymphatic vessels and are broken down and replaced by a fibrous band of tissue. (Gorham Stout Disease, n.d.)
The disease more commonly affects children and young adults under the age of 40. However, it has also been reported in an infant that was less than a month old, and an adult who was more than 70. (Vanishing Bone Disease (Gorham-Stout Syndrome): A Review of a Rare Entity, n.d.) While some research suggests that men are more likely to be affected than women, others say that there is a 1:1 ratio. (Davalos et al., 2016)
While the disease can affect multiple bones, it is generally seen to only affect a particular region of the body. The bones most commonly affected include the ribs, spine, pelvis, skull, collarbone, shoulders, and jaw. The symptoms and severity vary depending on which bone is affected. For example, when the ribs are affected, the patient may suffer from breathing difficulties, chest pain, and weight loss. When the spine or skull are affected, symptoms include spinal pain and paralysis. One of the most common early signs of the disease is pain and swelling around the affected region. However, for many, there are no symptoms until there is a spontaneous fracture after minor trauma to the bone.
Figure 1 shows a 3-year old with lesions on the right chest, shoulder and upper arm region (Wang & Li, 2018)
To date, there is no known cause of this disease or any evidence to prove that there are hereditary or environmental factors involved. Active research is being undertaken to identify a mutation that could cause the disorder. Laboratory research has shown that specific growth factors, which are naturally occurring substances that are capable of cell division, wound healing and cell differentiation, (e.g. vascular endothelial growth factor [VEGF]) (VEGF-C Promotes the Development of Lymphatics in Bone and Bone Loss, 2018) help modulate bone development and destruction, as well as lymphatic vessel growth. Some doctors have speculated that an oxygen deficiency in certain areas can lead to a change in pH, promoting the activity of specific enzymes which destroy the bone. Another theory is that osteoclasts, which are large cells that degrade the bones, play a role in lymphatic vessel development. (A Report of Two Children With Gorham-Stout Disease - BMC Paediatrics, 2019)
There is no specific test that can positively diagnose a child with the disease. However, MRI or CT scans of patients can reveal if a specific bone has disappeared, if there are holes, or if a bone is hollow.
Figure 2 shows X-rays of the left shoulder in a 77-year old patient with Gorham-Stout disease (Figure 5 | Report of a Rare Case of Gorham-Stout Disease of Both Shoulders: Bisphosphonate Treatment and Shoulder Replacement, n.d.)
The treatment of the disease depends on the location and severity of the disease. There are some immunosuppressives, which reduce the activation of the immune system, and anti-vascular medications, which block a specific growth factor (VEGF), that can slow down and, in some cases, even reverse the effects of the disease. While surgery cannot cure Gorham-Stout disease, there are some surgical procedures that can stabilise or remove the affected bone, or treat the symptoms and complications that arise due to the disease. Spinal reconstruction surgery can help to stabilise the affected vertebrae, while bone graft surgery can stimulate the formation of a new bone. Radiation therapy can also be used to treat pain and other symptoms of the disease, however, due to the delayed side-effects, this option is undesirable in most cases.
The Gorham-Stout disease has an average mortality of 13%, with there being a large difference in the progression of the disease and outcomes of treatment. (A Report of Two Children With Gorham-Stout Disease - BMC Paediatrics, 2019) For some, the disease stabilises after a few years, while others may undergo spontaneous remission, where there is an improvement without any treatment. (Gorham-Stout Disease - NORD, n.d.).
Currently, there are fewer than 300 known cases of Gorham-Stout disease, and even this number is wildly inaccurate as many people are not diagnosed correctly. Nevertheless, universities, research centres and hospitals all around the world are working to identify the cause of this disease, as well as strategies for prevention. The human body is strange and there is still a lot left to discover. Who would have thought that it is possible for parts of our body to disappear? To us, diseases such as Gorham-Stout Disease seem like an unlikely, impossible situation. However, for some, it is a very real part of their lives. It is important to raise awareness about these rare diseases so that it is possible for hospitals to accurately prevent, diagnose and treat patients.
Written by Tanisha Unnikrishnan
References
Davalos, E. A., Gandhi, N. M., Barank, D., & Varma, R. K. (2016, February 17). Gorham-Stout disease presenting with dyspnea and bone pain in a 9-year-old girl. ScienceDirect. Gorham-Stout disease presenting with dyspnea and bone pain in a 9-year-old girl
Figure 5 | Report of a Rare Case of Gorham-Stout Disease of Both Shoulders: Bisphosphonate Treatment and Shoulder Replacement. (n.d.). Hindawi. Retrieved February 7, 2022, from https://www.hindawi.com/journals/crirh/2011/565142/fig5/
Gorham's disease. (n.d.). Genetic and Rare Diseases Information Center (GARD). Retrieved February 6, 2022, from https://rarediseases.info.nih.gov/diseases/6542/gorhams-disease
Gorham Stout Disease. (n.d.). Boston Children's Hospital. Retrieved February 6, 2022, from https://www.childrenshospital.org/conditions-and-treatments/conditions/g/gorham-stout-disease
Gorham-Stout Disease - NORD. (n.d.). National Organization for Rare Disorders. Retrieved February 6, 2022, from https://rarediseases.org/rare-diseases/gorham-stout-disease/
A report of two children with Gorham-Stout disease - BMC Pediatrics. (2019, June 24). BMC Pediatrics. Retrieved February 6, 2022, from https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887-019-1561-0
Vanishing bone disease (Gorham-Stout syndrome): A review of a rare entity. (n.d.). NCBI. Retrieved February 11, 2022, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4133478/
VEGF-C promotes the development of lymphatics in bone and bone loss. (2018, April 5). PubMed. Retrieved February 11, 2022, from https://pubmed.ncbi.nlm.nih.gov/29620526/
Wang, Z., & Li, K. (2018, August 31). A Girl with Gorham–Stout Disease. The Journal of Pediatrics. https://www.jpeds.com/article/S0022-3476(18)31075-8/fulltext
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