Vanishing Bone Disease

Rare Disease Highlight: Vanishing Bone Disease

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Rare Disease Highlight

By Isaiah Manoogian

Vanishing Bone Disease (VBD) is an ultra-rare disease, which only about 300 cases have been reported in the literature. However, many cases can go undiagnosed or misdiagnosed, indicating VBD is more prevalent than what is in current literature. VBD is characterized by the increase of vascular structures, such as blood or lymphatic vessels, and osteolysis. Osteolysis is the active process in which osteoclasts (a type of bone cell) absorb and break down bone.1 The cause of VBD is unknown, possibly due to its ultra-rarity, however few theories exist. Specifically, elevated levels of a certain protein involved in the osteolysis process, malformation of blood and lymphatic vessels, and genetic mutations may play a role in this orphan disease.2-5 Since VBD is classified as Type IV osteolysis, the bone degradation can occur in any type of bone.6 This results in either gradual development of dull aches and weakness, or rapid pain and swelling.1 Although the VBD prognosis is unpredictable, it is rarely fatal, however, spinal and organ involvement is associated with high morbidity and mortality.7,8 One of the possible serious complications is lymphatic fluid accumulation (chylothorax), which greatly impedes patients’ breathing ability, possibly resulting in death.9

Although no current standard of care exists to treat VBD, three major available options for treatment are bisphosphonates, radiation, and surgery.10 Bisphosphonates have been successful, due to their antiosteolytic activity, while moderate doses of radiation and surgery are preferred for individuals with large symptomatic lesions and established disabling limitations.8,11,12 Resection of lesions, and reconstruction with bone grafts and/or prostheses are common surgical procedures.13 Despite the available treatment options for VBD, further research is required for the development of more effective interventions.

References

  1. Gorham-Stout Disease – NORD (National Organization for Rare Disorders). (2019). Retrieved June 12, 2020, from https://rarediseases.org/rare-diseases/gorham-stout-disease/
  2. GORHAM, L. W., & STOUT, A. P. (1955). Massive osteolysis (acute spontaneous absorption of bone, phantom bone, disappearing bone); its relation to hemangiomatosis. The Journal of Bone and Joint Surgery. American Volume, 37–A(5), 985–1004. http://www.ncbi.nlm.nih.gov/pubmed/13263344
  3. Devlin, R. D., Bone, H. G., & Roodman, G. D. (1996). Interleukin-6: a potential mediator of the massive osteolysis in patients with Gorham-Stout disease. The Journal of Clinical Endocrinology & Metabolism, 81(5), 1893–1897. https://doi.org/10.1210/jcem.81.5.8626854
  4. Dellinger, M. T., Garg, N., & Olsen, B. R. (2014). Viewpoints on vessels and vanishing bones in Gorham-Stout disease. In Bone (Vol. 63, pp. 47–52). Elsevier Inc. https://doi.org/10.1016/j.bone.2014.02.011
  5. Dickson, G. R., Mollan, R. A. B., & Carr, K. E. (1987). Cytochemical localization of alkaline and acid phosphatase in human vanishing bone disease. Histochemistry, 87(6), 569–572. https://doi.org/10.1007/BF00492472
  6. Ganau, M., Prasad, V., Ligarotti, G. K. I., Syrmos, N. C., & Ellamushi, H. (2018). An overview of the neurosurgical implications, pathophysiology, diagnosis and recent treatment strategies for grade IV idiopathic osteolysis, also known as Gorham-Stout or phantom bone disease. In Hellenic Journal of Nuclear Medicine (Vol. 21, Issue 3, pp. 198–201). P.Ziti and Co. https://doi.org/10.1967/s002449910905
  7. Bruch-Gerharz, D., Gerharz, C. D., Stege, H., Krutmann, J., Pohl, M., Koester, R., & Ruzicka, T. (2007). Cutaneous lymphatic malformations in disappearing bone (Gorham-Stout) disease: A novel clue to the pathogenesis of a rare syndrome. Journal of the American Academy of Dermatology, 56(2 SUPPL.), S21–S25. https://doi.org/10.1016/j.jaad.2006.01.063
  8. Patel, D. V. (2005). Gorham’s disease or massive osteolysis. In Clinical medicine & research (Vol. 3, Issue 2, pp. 65–74). Marshfield Clinic. https://doi.org/10.3121/cmr.3.2.65
  9. Tie, M. L. H., Poland, G. A., & Rosenow, E. C. (1994). Chylothorax in Gorham’s syndrome: A common complication of a rare disease. Chest, 105(1), 208–213. https://doi.org/10.1378/chest.105.1.208
  10. Hu, P., Yuan, X. G., Hu, X. Y., Shen, F. R., & Wang, J. A. (2013). Gorham-Stout syndrome in mainland China: A case series of 67 patients and review of the literature. Journal of Zhejiang University: Science B, 14(8), 729–735. https://doi.org/10.1631/jzus.B1200308
  11. Dunbar, S. F., Rosenberg, A., Mankin, H., Rosenthal, D., & Suit, H. D. (1993). Gorham’s massive osteolysis: The role of radiation therapy and a review of the literature. International Journal of Radiation Oncology, Biology, Physics, 26(3), 491–497. https://doi.org/10.1016/0360-3016(93)90968-2
  12. Hammer, F., Kenn, W., Wesselmann, U., Hofbauer, L. C., Delling, G., Allolio, B., & Arlt, W. (2004). Gorham-Stout Disease-Stabilization During Bisphosphonate Treatment. Journal of Bone and Mineral Research, 20(2), 350–353. https://doi.org/10.1359/JBMR.041113
  13. Kiran, D. N., & Anupama, A. (2011). Vanishing bone disease: A review. Journal of Oral and Maxillofacial Surgery, 69(1), 199–203. https://doi.org/10.1016/j.joms.2010.05.088

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