Ollier disease is a disorder of the skeleton where multiple enchondromas or benign cartilage growths form within an individual's bones. These growths cause numerous medical problems including deformities of the skeletal system, bone fractures, and limb discrepancy. The most common area for the enchondromas to develop is in an individual's hands and feet. These growths happen at the ends of the bones where an individual's bone growth takes place. Ollier disease usually manifests through multiple symptoms within the first ten years of an individual's life. The formation of the cartilage enchondromas in patients affected by Ollier disease typically stops when they reach full skeletal maturation. Ollier disease is diagnosed with the use of multiple medical diagnostic imaging tests including X-rays, MRIs, and CT scans. There is no cure for Ollier disease, so treatment focuses on the management of its symptoms and complications.
While the entire underlying cause of Ollier disease is not clear, genetic mutations are known to play a key role in its development. The mutations associated with Ollier disease are somatic or non-inherited spontaneous mutations. One of the genes associated with this disorder is the IDH1 gene. This gene is responsible for the instructions on how to produce an enzyme called isocitrate dehydrogenase 1. This enzyme is critical for the production of a form of cellular energy called NADPH. The other gene associated with Ollier disease is the IDH2 gene. This gene is responsible for the instructions on how to make an enzyme called isocitrate dehydrogenase 2. This enzyme is also critical in the cellular process that makes NADPH. The third gene associated with causing Ollier disease is a mutation in the PTH1R gene, which plays an important role in the production of a protein that interacts with calcium in the body. These mutations in individuals affected by Ollier disease is only present in some of the cells in their body. The cells that contain the mutation are the cells of which enchondromas develop.
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In severe cases of Ollier disease, a joint replacement may be necessary if the enchondromas are causing the individual significant pain, impair the function of a joint, or cause severe cosmetic deformities. Individuals affected by Ollier disease have a significant number of enchondromas throughout their body. Therefore, the affected individual and their care team have to be selective of which joint(s) they should operate. When a patient undergoes the major surgical procedure of a joint replacement, damaged parts of the individual's bone and joint are cut and removed. These bones are then replaced with a prosthesis or a plastic, metal, or ceramic device. The prosthesis used in this type of procedure is intuitively designed to simulate the movement of a healthy joint. Usually, this type of surgery is the last line of treatment when other options have been exhausted or have proven to be ineffective. Recovery from a joint replacement involves the use of pain management methods and physical therapy for the individual to learn how to use their joint again.
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Other Surgical Intervention
In some cases of Ollier disease, certain circumstances call for other surgical interventions to be included in the treatment protocol. For example, one or more of an individual's enchondromas may become malignant or cancerous. A surgical procedure will be required in order to remove the malignancy that has formed from the enchondroma. In cases where an enchondroma is obstructing the normal growth of a bone due to its proximity to the growth plate, a surgical procedure to extract the enchondroma may be needed. In places where the bones have become deformed by cartilage growths, a surgical procedure may be performed where the surgeon cuts around the damaged or deformed part of the bone and replaces the space with an artificial bone substitute or bone graft. Limb lengthening or resection surgery may be necessary to treat significant limb discrepancies in individuals affected by Ollier disease. The main concern with surgery and Ollier disease is every procedure runs the risk of stimulating the growth of new enchondromas.
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Most individuals who have Ollier disease will experience bone and joint pain throughout the course of their disease. This pain can occur due to physical activity, temperature changes, position changes, and numerous other external stimuli. The pain may also be spontaneous, coming on at any time with no specific trigger. The first way to manage pain for individuals with Ollier disease is the use of nonsteroidal anti-inflammatory medication to decrease the sensation of pain. Opioids are then used conservatively to treat the pain a patient may be experiencing in their bones if NSAIDs are ineffective. Other pain management techniques involve the use of cryotherapy or a pain treatment that uses localized freezing to kill any irritated nerves. CO2 laser treatment may help treat pain by promoting the body's healing process of tissue damage. Pain management is often needed following any surgical procedure involved with the enchondromas that grow on the bones of patients.
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Physical therapy can play a key role in the treatment of individuals affected by Ollier disease. Physical therapy is often recommended as the first line treatment for problems with functionality and pain caused by the growth of enchondromas. Routine stretching of the affected joints, coordination exercises, and active mobilization techniques have proven to improve the pain and mobility outcomes of affected individuals. After any joint replacement surgery necessitated by damage from enchondromas, physical therapy is always needed to help the patient learn how to move and manipulate their new joint. In some cases, the individual will need to learn how to use assistive equipment to help them with their everyday activities and maintain their independence. Some individuals with Ollier disease may not be able to undergo surgical intervention in order to treat pain or functionality impairments that result from enchondromas. In such cases, long-term ongoing physical therapy may be the only effective option to help the patient maintain or improve the functionality of the affected area.