Ollier disease

What causes Ollier disease?

The cause of Ollier disease is not completely understood. Typically, Ollier disease is caused by mutations in one of three genes ( PTH1R, IDH1, _or IDH2_). In most cases, Ollier disease is not inherited from a parent. Instead, the genetic mutations that are causing the symptoms of Ollier disease occur during a person’s lifetime (somatic mutations) and are only present in some cells of the body. This is called mosaicism. The cells that have the mutation are the cells where the enchondromas develop.

For some people, Ollier disease is inherited from a parent, and the gene mutation that is causing the disease is present in every cell of the body. In cases where Ollier disease is inherited, the disease may appear to skip a generation. Symptoms may be present in a grandparent, for example, but not in the parent of the affected child. This is called reduced penetrance because some people who have the mutation that causes Ollier disease do not have any symptoms.

Last updated on 05-01-20

How is Ollier disease diagnosed?

Ollier disease is typically diagnosed based on a clinical examination that matches symptoms of Ollier disease. This exam might include using CT scans, MRIs, or X-rays to view the bones more clearly. Biopsies of the enchondromas are also used to look for features that are characteristic of Ollier disease.

Last updated on 05-01-20

What are the chances that the benign tumors found in Ollier disease will become malignant (cancerous)?

Enchondromas in Ollier disease present a risk of malignant transformation into chondrosarcomas. This transformation most commonly occurs in young adults, and thus presents at an earlier age than observed in patients with chondrosarcoma alone. The reported incidence of malignant transformation is variable and estimated to occur in 5–50% of the cases. One resource states that up to 25% of patients with Ollier disease will develop a chondrosarcoma by the age of 40.

Last updated on 05-01-20

What type of follow-up should individuals with Ollier disease have as they age?

Although we were unable to find any specific guidelines regarding follow-up care for individuals with Ollier disease, one source did recommend annual surveillance of both children and adults. This same source suggested that periodic surveillance of the brain and abdomen should also be performed. Because multiple enchondromas in Ollier disease have an increased rate of recurrence after surgery, aggressive follow-up should be performed in these individuals. We recommend that you discuss appropriate follow-up care with your physician.

Last updated on 05-01-20

What is Ollier disease?

Ollier disease is a skeletal disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths may lead to skeletal deformities, limb discrepancy, and fractures. The enchondromas primarily occur in the limb bones, especially the bones of the hands and feet. They tend to develop near the ends of the bones, where growth occurs. Symptoms often appear in the first decade of life. The underlying cause of Ollier disease is not fully understood. In many people, the condition can be attributed to somatic mutations in the IDH1 or IDH2 gene. The disease is not typically inherited. Treatment is conservative in most cases, although surgery may be indicated in cases where complications (pathological fractures, growth defects, malignant transformation) arise.

Last updated on 05-01-20

What is the long-term outlook for people with Ollier disease?

The long-term outlook (prognosis) of Ollier disease is difficult to assess as there can be quite a bit of variation in the size, number, location, and evolution of enchondromas. The ages of onset and diagnosis, and whether surgery is needed, can also affect the prognosis. Overall, the prognosis is good, with most individuals expected to have a normal lifespan.

Research has shown that patients with widely distributed enchondromas may have a better prognosis than patients with localized cartilaginous changes which may induce major shortening of a lower extremity and thus limb asymmetry. Similarly, early development of enchondromas in fingers may lead to major deformities. As is generally the case, forms with an early onset appear more severe. After puberty, the enchondromas typically stabilize as cartilage is replaced by bone.

The most significant factors regarding prognosis in Ollier disease are related to the complications, most notably pathologic fracture and the risk for malignant transformation (development of cancer).

Last updated on 05-01-20

How might Ollier disease be treated?

Treatment for Ollier disease depends on how much the enchondromas are impacting the physical abilities of the affected individual. In some cases, surgery or joint replacement might be an option to correct some of the enchondromas. However, sometimes surgery causes more enchondromas to develop, so doctors may choose to perform surgery only if absolutely necessary. Other treatment options include physical therapy. The goals of treatment are to relieve any pain caused by the enchondromas and to allow the affected individual to walk with a normal gait.

Last updated on 05-01-20


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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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