What is Ollier’s Disease & How is it Treated? | Causes, Signs, Symptoms and Diagnosis of Ollier’s Disease

What is Ollier’s Disease?

Ollier’s disease is a rare condition in which benign growths and enchondromas develop in bone cartilage. These growths may affect the bones of the arms and legs. These growths may start as being benign or harmless but may be at risk of being malignant or cancerous subsequently.

The growths in Ollier’s disease are most commonly seen in the bones of the legs and arms.(1) However, they may also develop in the skull, ribs, and spine.

People with Ollier’s disease may be able to carry out normal activities. This may also depend on the degree of malformation.

Ollier’s disease is also referred to as dyschondroplasia, enchondromatosis, and multiple enchondromatosis.

Ollier’s disease is known to affect 1 in 100000 people and most commonly affects bone growth in children and young adults.(2)

Causes of Ollier’s Disease

The real cause of Ollier’s disease is not yet fully understood. However, it is believed to have genetic links.

Ollier’s disease is not a hereditary condition but researchers believe there may be alteration in certain specific genes that may cause the condition. Many people develop Ollier’s disease due to mutation in IDH1 and IDH2 genes. These genes are responsible for making isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2 enzymes. These enzymes have a role in a chemical reaction in the body that leads to the formation of NADPH molecules, which is important for many cellular processes in the body.

Ollier’s Disease and Cancer

People with Ollier’s disease, in about 50% of cases, develop cancer.(3) These may include:

  • Chondrosarcoma, cancer affecting bone cartilage
  • Glioma, cancer affecting the brain and spinal cord
  • Ovarian juvenile granulosa cell tumor, a cancer that affects ovaries in females

Genes may play a role in determining whether a person with Ollier’s disease may develop a specific type of cancer. A study found that people with specific mutations in IDH1 genes may have an increased risk of glioma.(4)

Signs and Symptoms of Ollier’s Disease

If a child has Ollier’s disease the symptoms may be present by birth. But, the condition may be noticeable by the age of 5 years.

Enchondromas associated with Ollier’s disease may lead to bone deformity, shortened limbs, and fractures.

Those with Ollier’s disease may have underdeveloped muscles, short stature, pain, swollen bones, and palpable bone mass.

How is Ollier’s Disease Diagnosed?

Ollier’s disease can be diagnosed on the basis of clinical assessment. A few diagnostic processes include x-ray, CT scans, and MRI scans. Blood tests can beneficial in diagnosing the condition.

Treatment of Ollier’s Disease

Medical intervention may not be required unless a person develops symptoms of Ollier’s Disease. Surgery for Ollier’s Disease may be an option if there are:

  • Growth abnormalities
  • Malignant changes in the bones and structures surrounding them
  • Fractures associated with disease

The following procedures may be involved in surgery for Ollier’s Disease:

  • Scraping of bones and removing lesions
  • Bone transplant to repair and rebuild the damaged bone
  • Joining bones
  • Mending any discrepancy between the length of limbs
  • Straightening of limb

Ollier’s disease is also known as endochromatosis, a rare bone disease that may affect bone growth in children and young adults. The growth may start as benign and may have a 50% chance of becoming cancerous. It is a low-grade malignancy that has a favorable outlook.